PUBLICATIONS

業績

2019

  • Hoshi M, Koshimizu E, Miyatake S, Matsumoto N, Imamura A. A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images – A first case of CLCN2-related leukoencephalopathy in Japan. Brain Dev. 2019;41(1):101-5. doi: 10.1016/j.braindev.2018.07.011.
  • Yoshitomi S, Takahashi Y, Imai K, Koshimizu E, Miyatake S, Nakashima M, Saitsu H, Matsumoto N, Kato M, Fujita T, Ishii A, Hirose S, Inoue Y. Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS). Seizure. 2019;65:118-23. doi: 10.1016/j.Seizure.2019.01.009.
  • Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. J Hum Genet. 2019;64(4):313-22. doi: 10.1038/s10038-018-0559-z.
  • Mizuguchi T, Nakashima M, Moey LH, Ch’ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N. A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. J Hum Genet. 2019;64(4):347-50. doi: 10.1038/s10038-018-0556-2.
  • Okuzono S, Fukai R, Noda M, Miyake N, Lee S, Kaku N, Sanefuji M, Akamine S, Kanno S, Ishizaki Y, Torisu H, Kira R, Matsumoto N, Sakai Y, Ohga S. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome. Brain Dev. 2019;41(4):378-81. doi: 10.1016/j.braindev.2018.10.012.
  • Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N. Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads. Genome Biol. 2019;20(1):58. doi: 10.1186/s13059-019-1667-6.
  • Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Study DDD, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Heron D, Depienne C, Titheradge H, Kramer JM, Campeau PM. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001.
  • Mizuguchi T, Suzuki T, Abe C, Umemura A, Tokunaga K, Kawai Y, Nakamura M, Nagasaki M, Kinoshita K, Okamura Y, Miyatake S, Miyake N, Matsumoto N. A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. J Hum Genet. 2019;64(5):359-68. doi: 10.1038/s10038-019-0569-5.
  • Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y. Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations. Epileptic Disord. 2019;21(1):48-54. doi: 10.1684/epd.2019.1026.
  • Yoshimura A, Kibe T, Hasegawa H, Ichida K, Koshimizu E, Miyatake S, Matsumoto N, Yokochi K. The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A. Neuropediatrics. 2019;50(2):126-9. doi: 10.1055/s-0039-1677869.
  • Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Study DDD, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019;21(4):850-60. doi: 10.1038/s41436-018-0259-2.
  • Mizuguchi T, Toyota T, Adachi H, Miyake N, Matsumoto N, Miyatake S. Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases. J Hum Genet. 2019;64(3):191-7. doi: 10.1038/s10038-018-0551-7.
  • Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N. SOFT syndrome in a patient from Chile. Am J Med Genet A. 2019;179(3):338-40. doi: 10.1002/ajmg.a.61015.
  • Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. Eur J Hum Genet. 2019;27(3):378-83. doi: 10.1038/s41431-018-0289-x.
  • Takenaka S, Kuroda Y, Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A. A Japanese patient with RAD51-associated Fanconi anemia. Am J Med Genet A. 2019;179(6):900-2. doi: 10.1002/ajmg.a.61130.
  • Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A. Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? Neurol Genet. 2019;5(2):e319. doi: 10.1212/NXG.0000000000000319.
  • Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Ostern R, Houge G, Hafstrom M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM, Jr., Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019;104(5):815-34. doi: 10.1016/j.ajhg.2019.03.022.
  • Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco J, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno M, Simons C, Ishikawa K, Ikegawa S. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019;104(5):925-35. doi: 10.1016/j.ajhg.2019.03.004.
  • Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Ann Neurol. 2019;85(6):927-33. doi: 10.1002/ana.25481.
  • Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun. 2019;10(1):2506. doi: 10.1038/s41467-019-10482-9.
  • Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nat Commun. 2019;10(1):2884. doi: 10.1038/s41467-019-10746-4.
  • Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N. Haploinsufficiency of A20 caused by a novel nonsense variant o r entire deletion of TNFAIP3 is clinically distinct from Behcet’s disease. Arthritis Res Ther. 2019;21(1):137. doi: 10.1186/s13075-019-1928-5.
  • Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. Am J Hum Genet. 2019;104(6):1233-40. doi: 10.1016/j.ajhg.2019.04.014.
  • Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N. A novel de novo frameshift variant in SETD1B causes epilepsy. J Hum Genet. 2019;64(8):821-7. doi: 10.1038/s10038-019-0617-1.
  • Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Clinical and molecular spectrum of CHOPS syndrome. Am J Med Genet A. 2019;179(7):1126-38. doi: 10.1002/ajmg.a.61174.
  • Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N. Translocation breakpoint disrupting the host SNHG14 gene but not coding genes o r snoRNAs in typical Prader-Willi syndrome. J Hum Genet. 2019;64(7):647-52. doi: 10.1038/s10038-019-0596-2.
  • Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Hum Mol Genet. 2019;28(14):2319-29. doi: 10.1093/hmg/ddz066.
  • Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. J Med Genet. 2019;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775.
  • Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. Eur J Paediatr Neurol. 2019;23(3):418-26. doi: 10.1016/j.ejpn.2019.02.003.
  • Fukada M, Yamada K, Eda S, Inoue K, Ohba C, Matsumoto N, Saitsu H, Nakayama A. Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy. Mol Genet Genomic Med. 2019;7(7):e00698. doi: 10.1002/mgg3.698.
  • Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S, Matsumoto N, Fujii Y. Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation. World Neurosurg. 2019;127:446-50. doi: 10.1016/j.wneu.2019.04.156.
  • Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med. 2019;21(7):1629-38. doi: 10.1038/s41436-018-0360-6.
  • Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215-21. doi: 10.1038/s41588-019-0459-y.
  • Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Study DDD, Ounap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019;105(2):403-12. doi: 10.1016/j.ajhg.2019.06.007.
  • Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N. Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. J Hum Genet. 2019;64(9):885-90. doi: 10.1038/s10038-019-0626-0.
  • Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet. 2019;105(2):384-94. doi: 10.1016/j.ajhg.2019.05.019.
  • Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. J Hum Genet. 2019;64(9):955-60. doi: 10.1038/s10038-019-0631-3.
  • Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 2019;93(3):e237-e51. doi: 10.1212/WNL.0000000000007774.
  • Ishikawa N, Tateishi Y, Tani H, Kobayashi Y, Itai T, Miyatake S, Kato M, Matsumoto N, Kobayashi M. Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation. Seizure. 2019;71:20-3. doi: 10.1016/j.Seizure.2019.05.024.
  • Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease. PLoS One. 2019;14(8):e0221482. doi: 10.1371/journal.pone.0221482.
  • Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res. 2019;155:106161. doi: 10.1016/j.eplepsyres.2019.106161.
  • Oda Y, Uchiyama Y, Motomura A, Fujita A, Azuma Y, Harita Y, Mizuguchi T, Yanagi K, Ogata H, Hata K, Kaname T, Matsubara Y, Wakui K, Matsumoto N. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. J Hum Genet. 2019;64(10):1005-14. doi: 10.1038/s10038-019-0641-1.
  • Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. J Hum Genet. 2019;64(10):967-78. doi: 10.1038/s10038-019-0643-z.
  • Yamada K, Watanabe A, Takeshita H, Fujita A, Miyake N, Matsumoto N, Matsumoto KI. Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. Biol Pharm Bull. 2019;42(9):1596-9. doi: 10.1248/bpb.b19-00168.
  • Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N. Comparison of mitochondrial DNA variants detection using short- and long-read sequencing. J Hum Genet. 2019;64(11):1107-16. doi: 10.1038/s10038-019-0654-9.
  • Nakashima M, Ogata K, Saitsu H, Matsumoto N. Reply to “Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders”. Ann Neurol. 2019;86(5):805-6. doi: 10.1002/ana.25599.
  • Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens M. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019;11(1):156. doi: 10.1186/s13148-019-0749-3.
  • Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis – a case report. BMC Neurol. 2019;19(1):253. doi: 10.1186/s12883-019-1489-x.
  • Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 2019;105(5):987-95. doi: 10.1016/j.ajhg.2019.09.009.
  • Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019;64(12):1173-86. doi: 10.1038/s10038-019-0667-4.
  • Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy. Ann Neurol. 2019;86(6):962-8. doi: 10.1002/ana.25586.
  • Hirasawa-Inoue A, Ishiyama A, Takeshita E, Shimizu-Motohashi Y, Saito T, Komaki H, Nakagawa E, Yuasa S, Saitsu H, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M. Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing. Brain Dev. 2019;41(10):905-9. doi: 10.1016/j.braindev.2019.06.006.
  • Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiol Dis. 2019;130:104516. doi: 10.1016/j.nbd.2019.104516.
  • Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and Brain Development, is caused by a founder pathogenic variant in thePISD gene. Genet Med. 2019;21(12):2734-43. doi: 10.1038/s41436-019-0595-x.
  • Oguni H, Nishikawa A, Sato Y, Otani Y, Ito S, Nagata S, Kato M, Hamanaka K, Miyatake S, Matsumoto N. A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. Epilepsy Res. 2019;155:106149. doi: 10.1016/j.eplepsyres.2019.06.001.
  • Yamaura G, Higashiyama Y, Kusama K, Kunii M, Tanaka K, Koyano S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Iwahashi Y, Joki H, Matsumoto N, Doi H, Tanaka F. Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease. Intern Med. 2019;58(18):2715-9. doi: 10.2169/internalmedicine.2126-18.
  • Nakamura H, Komiya H, Uematsu E, Nakae Y, Tanaka K, Kunii M, Tada M, Joki H, Koyano S, Matsumoto N, Doi H, Takeuchi H, Tanaka F. Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome. Neurol Clin Pract. 2019;9(5):e45-e7. doi: 10.1212/CPJ.0000000000000599.
  • Chong PF, Matsukura M, Fukui K, Watanabe Y, Matsumoto N, Kira R. West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother. Front Pediatr. 2019;7:531. doi: 10.3389/fped.2019.00531.

2018

  • Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. Brain Dev. 2018;40(1):69-73. doi: 10.1016/j.braindev.2017.06.004.
  • Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T. Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am J Hum Genet. 2018;102(3):480-6. doi: 10.1016/j.ajhg.2018.01.019.
  • Enya T, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. Am J Med Genet A. 2018;176(3):707-11. doi: 10.1002/ajmg.a.38606.
  • Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N. Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. J Hum Genet. 2018;63(3):263-70. doi: 10.1038/s10038-017-0405-8.
  • Vogtle FN, Brandl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kucukkose C, Muhle H, Jahn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Muller FJ, Helbig I. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018;102(4):557-73. doi: 10.1016/j.ajhg.2018.02.014.
  • Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet. 2018;137(1):95-104. doi: 10.1007/s00439-017-1863-y.
  • Matsumoto N. A message for 2018. J Hum Genet. 2018;63(4):393-6. doi: 10.1038/s10038-018-0417-z.
  • Hyun HS, Kim SH, Park E, Cho MH, Kang HG, Lee HS, Miyake N, Matsumoto N, Tsukaguchi H, Cheong HI. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. BMC Med Genet. 2018;19(1):131. doi: 10.1186/s12881-018-0649-y.
  • Saikusa T, Hara M, Iwama K, Yuge K, Ohba C, Okada JI, Hisano T, Yamashita Y, Okamoto N, Saitsu H, Matsumoto N, Matsuishi T. De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies. Brain Dev. 2018;40(5):406-9. doi: 10.1016/j.braindev.2017.12.013.
  • Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N. A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. J Hum Genet. 2018;63(4):425-30. doi: 10.1038/s10038-018-0410-6.
  • Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018;27(8):1421-33. doi: 10.1093/hmg/ddy052.
  • Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N. A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. J Hum Genet. 2018;63(4):487-91. doi: 10.1038/s10038-017-0404-9.
  • Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. J Hum Genet. 2018;63(4):417-23. doi: 10.1038/s10038-017-0408-5.
  • Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H. Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. Am J Hum Genet. 2018;102(2):321-9. doi: 10.1016/j.ajhg.2018.01.004.
  • Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N. Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. J Hum Genet. 2018;63(4):529-32. doi: 10.1038/s10038-017-0399-2.
  • Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. Ann Neurol. 2018;83(4):794-806. doi: 10.1002/ana.25208.
  • Silva S, Miyake N, Tapia C, Matsumoto N. The second point mutation in PREPL: a case report and literature review. J Hum Genet. 2018;63(5):677-81. doi: 10.1038/s10038-018-0426-y.
  • Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A. A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. J Hum Genet. 2018;63(5):673-6. doi: 10.1038/s10038-018-0421-3.
  • Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch’ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Detection of copy number variations in epilepsy using exome data. Clin Genet. 2018;93(3):577-87. doi: 10.1111/cge.13144.
  • Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch’ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clin Genet. 2018;93(2):266-74. doi: 10.1111/cge.13061.
  • Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gunduz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, Group CRR, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018;141(6):1703-18. doi: 10.1093/brain/awy092.
  • Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y. Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening. Mol Genet Metab. 2018;124(1):64-70. doi: 10.1016/j.ymgme.2018.03.007.
  • Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Dysosteosclerosis is also caused by TNFRSF11A mutation. J Hum Genet. 2018;63(6):769-74. doi: 10.1038/s10038-018-0447-6.
  • Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. J Hum Genet. 2018;63(6):749-53. doi: 10.1038/s10038-018-0432-0.
  • Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T. A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl. Brain Dev. 2018;40(6):493-7. doi: 10.1016/j.braindev.2018.02.002.
  • Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N. Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. Brain Dev. 2018;40(7):566-9. doi: 10.1016/j.braindev.2018.03.012.
  • Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M. A novel 8-bp duplication in ADAT3 causes mild intellectual disability. Hum Genome Var. 2018;5:7. doi: 10.1038/s41439-018-0007-9.
  • Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018;39(8):1070-5. doi: 10.1002/humu.23550.
  • Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogne B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian G, Study DDD, Reis A, Sticht H, Zweier C. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018;103(2):305-16. doi: 10.1016/j.ajhg.2018.07.003.
  • Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N. Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism. Hum Genome Var. 2018;5:18. doi: 10.1038/s41439-018-0020-z.
  • Sakaguchi T, Zigman T, Petkovic Ramadza D, Omerza L, Puseljic S, Eres Hrvacanin Z, Miyake N, Matsumoto N, Baric I. A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. Hum Genome Var. 2018;5:18005. doi: 10.1038/hgv.2018.5.
  • Yahikozawa H, Miyatake S, Sakai T, Uehara T, Yamada M, Hanyu N, Futatsugi Y, Doi H, Koyano S, Tanaka F, Suzuki A, Matsumoto N, Yoshida K. A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies. Cerebellum. 2018;17(5):525-30. doi: 10.1007/s12311-018-0941-6.
  • Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep. 2018;22(3):734-47. doi: 10.1016/j.celrep.2017.12.074.
  • Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N. Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. Clin Genet. 2018;94(2):274-5. doi: 10.1111/cge.13369.
  • Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F. Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel. Clin Genet. 2018;94(2):232-8. doi: 10.1111/cge.13371.
  • Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Brain Dev. 2018;40(9):819-23. doi: 10.1016/j.braindev.2018.05.012.
  • Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. Brain Dev. 2018;40(8):728-32. doi: 10.1016/j.braindev.2018.04.002.
  • Daida A, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M. Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. Epileptic Disord. 2018;20(4):313-8. doi: 10.1684/epd.2018.0981.
  • Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N. Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Ann Neurol. 2018;84(1):159-61. doi: 10.1002/ana.25256.
  • Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Seizure. 2018;60:91-3. doi: 10.1016/j.Seizure.2018.06.012.
  • Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y. Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. Clin Genet. 2018;94(3-4):391-2. doi: 10.1111/cge.13378.
  • Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. PRUNE1-related disorder: Expanding the clinical spectrum. Clin Genet. 2018;94(3-4):362-7. doi: 10.1111/cge.13385.
  • Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H. Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency. Int J Hematol. 2018;108(4):443-6. doi: 10.1007/s12185-018-2462-y.
  • Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N. A novel SLC9A1 mutation causes cerebellar ataxia. J Hum Genet. 2018;63(10):1049-54. doi: 10.1038/s10038-018-0488-x.
  • Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain. 2018;141(11):3098-114. doi: 10.1093/brain/awy246.
  • Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N. Novel SUZ12 mutations in Weaver-like syndrome. Clin Genet. 2018;94(5):461-6. doi: 10.1111/cge.13415.
  • Urel-Demir G, Simsek-Kiper PO, Akgun-Dogan O, Gocmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K. Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification. J Hum Genet. 2018;63(9):1003-7. doi: 10.1038/s10038-018-0473-4.
  • Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N. GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clin Genet. 2018;94(6):538-47. doi: 10.1111/cge.13454.
  • Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. J Hum Genet. 2018;63(12):1223-9. doi: 10.1038/s10038-018-0516-x.
  • Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch’ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M. PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. Epilepsia Open. 2018;3(4):495-502. doi: 10.1002/epi4.12272.
  • Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018;84(6):814-28. doi: 10.1002/ana.25370.
  • Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018;84(6):843-53. doi: 10.1002/ana.25367.
  • Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M, Japan Early Onset Scoliosis Research G, Watanabe K, Ikegawa S. Screening of known disease genes in congenital scoliosis. Mol Genet Genomic Med. 2018;6(6):966-74. doi: 10.1002/mgg3.466.
  • Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. Brain Dev. 2018;40(1):53-7. doi: 10.1016/j.braindev.2017.06.005.
  • Yano S, Fujimoto A, Morin-Leisk J, Matumoto N, Miyake N, Gillespie M, Gao H. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Clin Genet. 2018;94(5):487-8. doi: 10.1111/cge.13436.
  • Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. J Pediatr Hematol Oncol. 2018;40(5):391-4. doi: 10.1097/MPH.0000000000001111.
  • Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet. 2018;93(2):368-73. doi: 10.1111/cge.13067.
  • Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N. A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. Br J Haematol. 2018;181(6):843-7. doi: 10.1111/bjh.14710.
  • Okamoto N, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N. Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. Congenit Anom (Kyoto). 2018;58(3):105-7. doi: 10.1111/cga.12242.
  • Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clin Genet. 2018;93(4):929-30. doi: 10.1111/cge.13105.
  • Miyatake S, Koshimizu E, Shirai I, Kumada S, Nakata Y, Kamemaru A, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Matsumoto N. A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions. Mov Disord. 2018;33(1):177-9. doi: 10.1002/mds.27219.
  • Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N. A novel mutation in SLC1A3 causes episodic ataxia. J Hum Genet. 2018;63(2):207-11. doi: 10.1038/s10038-017-0365-z.

2017

  • Sakamoto Y, Yamamoto T, Kajino Y, Kabata T, Tsuchiya H, Miyake N, Iwamoto Y, Matsumoto N, Ikegawa S. Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. J Orthop Sci. 2017;22(5):967-71. doi: 10.1016/j.jos.2016.01.010.
  • Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T. The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev. 2017;39(3):236-42. doi: 10.1016/j.braindev.2016.09.010.
  • Ogawa Y, Kunishima S, Yanagisawa K, Osaki Y, Uchiyama Y, Matsumoto N, Tokiniwa H, Horiguchi J, Nojima Y, Handa H. Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. Int J Hematol. 2017;105(2):221-5. doi: 10.1007/s12185-016-2096-x.
  • Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain Dev. 2017;39(2):177-81. doi: 10.1016/j.braindev.2016.08.008.
  • Fukuoka M, Kuki I, Kawawaki H, Okazaki S, Kim K, Hattori Y, Tsuji H, Nukui M, Inoue T, Yoshida Y, Uda T, Kimura S, Mogami Y, Suzuki Y, Okamoto N, Saitsu H, Matsumoto N. Quinidine therapy for West syndrome with KCNTI mutation: A case report. Brain Dev. 2017;39(1):80-3. doi: 10.1016/j.braindev.2016.08.002.
  • Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T, Japan Early Onset Scoliosis Research G, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. Hum Mutat. 2017;38(3):317-23. doi: 10.1002/humu.23168.
  • Abe Y, Matsuduka A, Okanari K, Miyahara H, Kato M, Miyatake S, Saitsu H, Matsumoto N, Tomoki M, Ihara K. A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. Eur J Med Genet. 2017;60(3):169-71. doi: 10.1016/j.ejmg.2016.12.008.
  • Guo L, Elcioglu NH, Iida A, Demirkol YK, Aras S, Matsumoto N, Nishimura G, Miyake N, Ikegawa S. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J Hum Genet. 2017;62(3):447-51. doi: 10.1038/jhg.2016.143.
  • Fox J, Ben-Shachar S, Uliel S, Svirsky R, Saitsu H, Matsumoto N, Fattal-Valevski A. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. Am J Med Genet A. 2017;173(3):744-8. doi: 10.1002/ajmg.a.38027.
  • Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017;49(3):457-64. doi: 10.1038/ng.3762.
  • Takata A, Matsumoto N, Kato T. Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci. Nat Commun. 2017;8:14519. doi: 10.1038/ncomms14519.
  • Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A. MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment. EMBO J. 2017;36(9):1227-42. doi: 10.15252/embj.201695630.
  • Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, Matsumoto N. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat. 2017;38(6):637-48. doi: 10.1002/humu.23200.
  • Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J Hum Genet. 2017;62(4):503-6. doi: 10.1038/jhg.2016.157.
  • Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet. 2017;62(5):525-9. doi: 10.1038/jhg.2016.163.
  • Latypova X, Matsumoto N, Vinceslas-Muller C, Bezieau S, Isidor B, Miyake N. Novel KCNB1 mutation associated with non-syndromic intellectual disability. J Hum Genet. 2017;62(5):569-73. doi: 10.1038/jhg.2016.154.
  • Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T. A case of severe movement disorder with GNAO1 mutation responsive to topiramate. Brain Dev. 2017;39(5):439-43. doi: 10.1016/j.braindev.2016.11.009.
  • Kimizu T, Takahashi Y, Oboshi T, Horino A, Koike T, Yoshitomi S, Mori T, Yamaguchi T, Ikeda H, Okamoto N, Nakashima M, Saitsu H, Kato M, Matsumoto N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Brain Dev. 2017;39(3):256-60. doi: 10.1016/j.braindev.2016.09.009.
  • Matsumoto N. A message for 2017. J Hum Genet. 2017;62(5):517-9. doi: 10.1038/jhg.2017.29.
  • Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. J Neurol Sci. 2017;376:7-12. doi: 10.1016/j.jns.2017.02.065.
  • Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017;7(1):3552. doi: 10.1038/s41598-017-02840-8.
  • Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A, Nakashima Y, Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health L, Welfare of J, Iwamoto Y, Ikegawa S. Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head. J Orthop Res. 2017;35(4):768-74. doi: 10.1002/jor.23300.
  • Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, Nakashima M, Saitsu H, Matsumoto N. Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. Brain Dev. 2017;39(3):266-70. doi: 10.1016/j.braindev.2016.09.011.
  • Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. J Hum Genet. 2017;62(6):653-5. doi: 10.1038/jhg.2017.11.
  • Kino J, Tsukaguchi H, Kimata T, Nguyen HT, Nakano Y, Miyake N, Matsumoto N, Kaneko K. Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. BMC Nephrol. 2017;18(1):220. doi: 10.1186/s12882-017-0632-4.
  • Hatano T, Daida K, Hoshino Y, Li Y, Saitsu H, Matsumoto N, Hattori N. Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation. Parkinsonism Relat Disord. 2017;40:80-2. doi: 10.1016/j.parkreldis.2017.04.009.
  • Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet. 2017;62(8):741-6. doi: 10.1038/jhg.2017.24.
  • Kurahashi N, Miyake N, Mizuno S, Koshimizu E, Kurahashi H, Yamada K, Natsume J, Aoki Y, Nakamura M, Taniai H, Maki Y, Abe-Hatano C, Matsumoto N, Maruyama K. Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations. Brain Dev. 2017;39(8):672-7. doi: 10.1016/j.braindev.2017.03.025.
  • Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. J Hum Genet. 2017;62(11):997-1000. doi: 10.1038/jhg.2017.77.
  • Okubo Y, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K. A patient with Muenke syndrome manifesting migrating neonatal seizures. Brain Dev. 2017;39(10):873-6. doi: 10.1016/j.braindev.2017.05.007.
  • Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE. Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Hum Mutat. 2017;38(11):1542-54. doi: 10.1002/humu.23303.
  • Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet. 2017;62(8):797-801. doi: 10.1038/jhg.2017.38.
  • Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. 2017;18(4):185-94. doi: 10.1007/s10048-017-0520-x.
  • Okamoto N, Tsuchiya Y, Kuki I, Yamamoto T, Saitsu H, Kitagawa D, Matsumoto N. Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation. Mol Genet Genomic Med. 2017;5(5):585-91. doi: 10.1002/mgg3.303.
  • Iwashita H, Okudela K, Matsumura M, Yamanaka S, Sawazumi T, Enaka M, Udaka N, Miyake A, Hibiya T, Miyake N, Matsumoto N, Makiyama K, Yao M, Nagashima Y, Ohashi K. Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation. Pathol Int. 2017;67(11):585-9. doi: 10.1111/pin.12587.
  • Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lammer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Moller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140(9):2322-36. doi: 10.1093/brain/awx195.
  • Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi JI, Matsumoto N, Yamamoto T. A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. Hum Genome Var. 2017;4:17051. doi: 10.1038/hgv.2017.51.
  • Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S. Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum. Hum Genome Var. 2017;4:17040. doi: 10.1038/hgv.2017.40.
  • Kawasaki Y, Kuki I, Ehara E, Murakami Y, Okazaki S, Kawawaki H, Hara M, Watanabe Y, Kishimoto S, Suda K, Saitsu H, Matsumoto N. Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. J Pediatr. 2017;191:270-4. doi: 10.1016/j.jpeds.2017.08.057.
  • Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Clin Genet. 2017;92(2):180-7. doi: 10.1111/cge.12991.
  • Sugiyama M, Iguchi A, Yamada M, Terashita Y, Ohshima J, Cho Y, Miyake N, Matsumoto N, Ueki M, Yamazaki Y, Takezaki S, Kobayashi I, Ariga T. Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase delta syndrome 2. Bone Marrow Transplant. 2017;52(12):1678-80. doi: 10.1038/bmt.2017.189.
  • Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Clin Genet. 2017;92(5):554-5. doi: 10.1111/cge.13023.
  • Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T, Japan Early Onset Scoliosis Research G, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Response to Lefebvre et al. Clin Genet. 2017;92(5):563-4. doi: 10.1111/cge.13011.
  • Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S. Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Epilepsia Open. 2018;3(1):81-5. doi: 10.1002/epi4.12085.
  • Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet. 2017;100(1):169-78. doi: 10.1016/j.ajhg.2016.11.017.
  • Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H. De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. Ann Clin Transl Neurol. 2018;5(3):280-96. doi: 10.1002/acn3.528.
  • Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H. A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. Hum Genome Var. 2018;5:16. doi: 10.1038/s41439-018-0015-9.
  • Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N. Phenotypic and molecular insights into PQBP1-related intellectual disability. Am J Med Genet A. 2018;176(11):2446-50. doi: 10.1002/ajmg.a.40479.
  • Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S. A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. Eur J Med Genet. 2018;61(8):451-4. doi: 10.1016/j.ejmg.2018.03.003.

2016

  • Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S. FDG-PET study of patients with Leigh syndrome. J Neurol Sci. 2016;362:309-13. doi: 10.1016/j.jns.2016.02.008.
  • Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007.
  • Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. Brain Dev. 2015;37(3):281-5. doi: 10.1016/j.braindev.2014.05.004.
  • Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016;57(4):e81-6. doi: 10.1111/epi.13338.
  • Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N. Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing. Hum Genet. 2016;135(1):61-8. doi: 10.1007/s00439-015-1611-0.
  • Behnam M, Imagawa E, Chaleshtori AR, Ronasian F, Salehi M, Miyake N, Matsumoto N. A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. J Hum Genet. 2016;61(2):177-9. doi: 10.1038/jhg.2015.127.
  • Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Birth Defects Res A Clin Mol Teratol. 2016;106(4):304-7. doi: 10.1002/bdra.23488.
  • Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. J Neurol Neurosurg Psychiatry. 2016;87(2):212-6. doi: 10.1136/jnnp-2014-310084.
  • Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N. Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. Sci Rep. 2016;6:22985. doi: 10.1038/srep22985.
  • Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia. 2016;57(4):566-73. doi: 10.1111/epi.13344.
  • Nakashima M, Kouga T, Lourenco CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia. 2016;57(1):e18-23. doi: 10.1111/epi.13257.
  • Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS, Collaboration DDD, Kuhl SJ, Kini U, McNeill A. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J Med Genet. 2016;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393.
  • Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet. 2016;24(1):129-34. doi: 10.1038/ejhg.2015.92.
  • Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C. Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. Am J Med Genet A. 2016;170(3):717-24. doi: 10.1002/ajmg.a.37478.
  • Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H. Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet. 2016;61(3):199-206. doi: 10.1038/jhg.2015.141.
  • Kageyama H, Miyajima M, Ogino I, Nakajima M, Shimoji K, Fukai R, Miyake N, Nishiyama K, Matsumoto N, Arai H. Panventriculomegaly with a wide foramen of Magendie and large cisterna magna. J Neurosurg. 2016;124(6):1858-66. doi: 10.3171/2015.6.JNS15162.
  • Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet. 2016;61(5):451-5. doi: 10.1038/jhg.2015.163.
  • Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M. Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. J Invest Dermatol. 2016;136(4):875-8. doi: 10.1016/j.jid.2015.12.034.
  • Komiyama M, Miyatake S, Terada A, Ishiguro T, Ichiba H, Matsumoto N. Vein of Galen Aneurysmal Malformation in Monozygotic Twin. World Neurosurg. 2016;91:672 e11-5. doi: 10.1016/j.wneu.2016.04.031.
  • Chong PF, Nakamura R, Saitsu H, Matsumoto N, Kira R. Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation. Ann Neurol. 2016;79(3):502-3. doi: 10.1002/ana.24598.
  • Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. J Hum Genet. 2016;61(5):381-7. doi: 10.1038/jhg.2016.1.
  • Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N. Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. Ann Clin Transl Neurol. 2016;3(5):356-65. doi: 10.1002/acn3.300.
  • Inui T, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain Dev. 2016;38(5):520-4. doi: 10.1016/j.braindev.2015.11.003.
  • Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. Eur J Paediatr Neurol. 2016;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012.
  • Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One. 2016;11(3):e0150555. doi: 10.1371/journal.pone.0150555.
  • Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N. Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. Sci Rep. 2016;6:30072. doi: 10.1038/srep30072.
  • Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Ann Hum Genet. 2016;80(4):235-40. doi: 10.1111/ahg.12157.
  • Matsumoto N. A message for 2016. J Hum Genet. 2016;61(6):467-9. doi: 10.1038/jhg.2016.41.
  • Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016;170(8):1967-73. doi: 10.1002/ajmg.a.37722.
  • Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48(7):792-7. doi: 10.1038/ng.3569.
  • anemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. BMC Neurol. 2016;16:174. doi: 10.1186/s12883-016-0680-6.
  • Saijo H, Hayashi M, Ezoe T, Ohba C, Saitsu H, Kurata K, Matsumoto N. The first genetically confirmed Japanese patient with mucolipidosis type IV. Clin Case Rep. 2016;4(5):509-12. doi: 10.1002/ccr3.540.
  • Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. Am J Hum Genet. 2016;99(4):950-61. doi: 10.1016/j.ajhg.2016.08.005.
  • Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T. The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J Hum Genet. 2016;61(10):899-902. doi: 10.1038/jhg.2016.64.
  • Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet. 2016;90(6):526-35. doi: 10.1111/cge.12836.
  • Hirabayashi S, Saitsu H, Matsumoto N. Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17). Brain Dev. 2016;38(1):118-23. doi: 10.1016/j.braindev.2015.05.004.
  • Culic V, Miyake N, Jankovic S, Petrovic D, Simunovic M, Dapic T, Shiina M, Ogata K, Matsumoto N. Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Hum Genome Var. 2016;3:16035. doi: 10.1038/hgv.2016.35.
  • Kameta E, Sugimori K, Kaneko T, Ishii T, Miwa H, Sato T, Ishii Y, Sue S, Sasaki T, Yamashita Y, Shibata W, Matsumoto N, Maeda S. Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing. Oncol Lett. 2016;12(5):3875-81. doi: 10.3892/ol.2016.5168.
  • Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Riviere JB, Faivre L, Thevenon J. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Am J Hum Genet. 2016;99(6):1368-76. doi: 10.1016/j.ajhg.2016.10.009.
  • Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Genevieve D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. The molecular and phenotypic spectrum of IQSEC2-related epilepsy. Epilepsia. 2016;57(11):1858-69. doi: 10.1111/epi.13560.
  • Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T. Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. Pediatrics. 2016;138(3). doi: 10.1542/peds.2016-0897.
  • Kobayashi Y, Magara S, Okazaki K, Komatsubara T, Saitsu H, Matsumoto N, Kato M, Tohyama J. Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. Brain Dev. 2016;38(10):950-3. doi: 10.1016/j.braindev.2016.06.004.
  • Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, Saitsu H, Matsumoto N, Osaka H, Yamagata T. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. Brain Dev. 2016;38(10):959-63. doi: 10.1016/j.braindev.2016.06.002.
  • Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. Am J Med Genet A. 2016;170(10):2662-70. doi: 10.1002/ajmg.a.37778.
  • Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet. 2016;61(9):835-8. doi: 10.1038/jhg.2016.54.
  • Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet. 2016;61(9):839-42. doi: 10.1038/jhg.2016.56.
  • Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016;38(9):852-6. doi: 10.1016/j.braindev.2016.04.007.
  • Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. J Med Genet. 2016;53(8):568-74. doi: 10.1136/jmedgenet-2016-103756.
  • Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. WDR45 mutations in three male patients with West syndrome. J Hum Genet. 2016;61(7):653-61. doi: 10.1038/jhg.2016.27.
  • Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. J Hum Genet. 2016;61(6):527-31. doi: 10.1038/jhg.2016.9.
  • Mochida K, Amano M, Miyake N, Matsumoto N, Hatamochi A, Kosho T. Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back. J Dermatol. 2016;43(7):832-3. doi: 10.1111/1346-8138.13273.
  • Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N. Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? Clin Genet. 2016;90(3):276-81. doi: 10.1111/cge.12767.
  • Miyamoto T, Bando Y, Koh E, Tsujimura A, Miyagawa Y, Iijima M, Namiki M, Shiina M, Ogata K, Matsumoto N, Sengoku K. A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. Andrology. 2016;4(1):75-81. doi: 10.1111/andr.12113.
  • Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S. DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. Clin Genet. 2016;90(5):472-4. doi: 10.1111/cge.12805.
  • Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. 2016;89(1):115-9. doi: 10.1111/cge.12586.
  • Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016;61(6):547-53. doi: 10.1038/jhg.2016.12.
  • Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Characterization of SPATA5-related encephalopathy in early childhood. Clin Genet. 2016;90(5):437-44. doi: 10.1111/cge.12813.
  • Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algul H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, 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    Komatsu Y, Suzuki T, Tsurusaki Y, Miyake N, Matsumoto N, Yan K. TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia. CEN Case Rep. 2016;5(2):137-40. doi: 10.1007/s13730-015-0210-1.

2015

  • Miyake N#, Tsukaguchi Y#, (# denotes equal contribution) Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Imamura S, Yamashita M, Fijita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Imamoto N, Ryo A, Ogata K, Iijima K, *Matsumoto N (*: corresponding). Biallelic mutations in NUP107 encoding a nuclear pore complex subunit cause early childhood onset steroid-Resistance nephrotic syndrome. Am J Hum Genet 97(4):555-566, 2015 Oct. doi: 10.1016/j.ajhg.2015.08.013.
  • Nakashima M, Saitsu H, Tohyama J, Kato M, Shiina M, Takei N, Kitaura H, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Takebayashi H, Ogata K, Kameyama S, Kakita A, *Matsumoto N. Somatic Mutations in the MTOR Gene Cause Focal Cortical Dysplasia Type IIb. Ann Neurol 78(3):375-386, 2015 Sep. doi: 10.1002/ana.24444.
  • Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awadu M, Miyake N, Kosho T*. Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). Am J Med Genet Part A 167(3):592-601, 2015 Mar. doi: 10.1002/ajmg.a.36942.
  • Hara M, Ohba C, Yamashita Y, Saitsu H, Matsumoto N, *Matsuishi T. De novo SHANK3 mutation causes a female patient with Rett syndrome like phenotype. Am J Med Genet Part A 167(7):1593-1596, 2015 Jul. doi: 10.1002/ajmg.a.36775.
  • *Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H. A Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in the SGCE gene. Pediatr Int 57(2):324-326, 2015 Apr. doi: 10.1111/ped.12613.
  • Okubo M#, Fujita A# (# denotes equal contribution), Saito Y, Komaki H, Ishiyama A, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Matsumoto N, Sasaki M. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. Am J Med Genet Part A 167(5):1100-1106, 2015 May. doi: 10.1002/ajmg.a.36881
  • Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H*, Matsumoto N* (*: co-corresponding). Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet 60(2):97-101, 2015 Feb. doi: 10.1038/jhg.2014.103.

    *Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H. A Japanese girl with a severe form of vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev 37(6):638-642, 2015 Jun. doi: 10.1016/j.braindev.2014.10.002.

  • Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, *Matsumoto N. Detecting copy number variations in whole exome sequencing data using the eXome Hidden Markov Model: an “exome-first” approach. J Hum Genet 60(4):175-182, 2015 Apr. doi: 10.1038/jhg.2014.124.
  • *Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 60(4):167-173, 2015 Apr. doi: 10.1038/jhg.2015.5.
  • Ohba C, Takahashi N, Kato M, Osaka H, Takashi Shiihara T, Tohyama J, Nabatame S, Azuma J, MD, Fujii Y, MD, Hara M, Tsurusawa R, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, *Saitsu H, *Matsumoto N (*: co-correspondence). GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, hyperkinetic and stereotyped movement disorders. Epilepsia 56(6):841-848, 2015 Jun. doi: 10.1111/epi.12987.
  • *Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. J Neurol. 262(5):1278-1284, 2015 May. doi: 10.1007/s00415-015-7705-8.
  • Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F*. A Japanese case of cerebellar ataxia, spastic paraparesis, and deep sensory impairment associated with a novel homozygous TTC19 mutation. J Hum Genet. 60(4):187-191, 2015 Apr. doi: 10.1038/jhg.2015.7.
  • Fukai R, Hiraki Y, Tsurusaki Y, Nakashima M, Saitsu H, *Miyake N, *Matsumoto N (*: co-corrresponding). A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet 60(5):277-279, 2015 May. doi: 10.1038/jhg.2015.13.
  • Matsumoto N. A message for 2015. J Hum Genet 60(3): 109-111, 2015 Mar. doi: 10.1038/jhg.2015.9.
  • Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, *Tokita Y. An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family. PLoS One 10(6):e0128227, 2015 Jun 1. doi: 10.1371/journal.pone.0128227.
  • Endo Y, *Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause tubular-aggregate- myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel. Hum Mol Genet 24(3): 637-648, 2015 Feb 1. doi: 10.1093/hmg/ddu477.
  • Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, *Ishikawa K. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: A broadened spectrum of SCA34. JAMA Neurol. 72(7):797-805, 2015 Jul 1. doi: 10.1001/jamaneurol.2015.0610.
  • Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K*, Sasaki T* (*: co-correspondence). Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals. Hum Genome Var 2: 15024, 2015. doi:10.1038/hgv.2015.24
  • Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S#*, Jin DK#*. (*: co-correspondence) (# denotes equal contribution). Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. Hum Mut 36(2):191-195, 2015 Feb. doi: 10.1002/humu.22731.
  • Yahikozawa H, #Yoshida K, Sato S, Hanyu N, Doi H, 4, Miyatake S, Matsumoto N. Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7) (#: correspondence). Hum Genome Var 2:15012, 2015. doi:10.1038/hgv.2015.12.
  • Imagawa E#, Fukai R#, Behnam M#, Goyal M# (#: equally contributed), Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, *Miyake N, *Matsumoto N (*: co-correspondence). Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Hum Genome Var 2, 15034, 2015. doi:10.1038/hgv.2015.34
  • *Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H. Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. Pediat Int 57(4):758-762, 2015. doi: 10.1111/ped.12622.
  • Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasak H*. DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal testis. BMC Genomics 16(1):624, 2015 Aug. doi: 10.1186/s12864-015-1833-5
  • Afifi H, Fukai R, Miyake N, Gamal E, Din A, Eid M, Eid O, Thomas M, El-Badry T, Tosson A, Abdel-Salam G*, Matsumoto N. De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. Am J Med Genet Part A 167(10): 2418-2424, 2015 Sep. doi: 10.1002/ajmg.a.37185.
  • Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S*. Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. PLoS One. 10(11):e0142126, 2015. Nov. doi: 10.1371/journal.pone.0142126.
  • *Saitsu H#, *Akita T# (# denotes co-first authors, *: co-correspondence), Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep. 5:15199, 2015 Oct. doi: 10.1038/srep15199.

2014

  • Miyatake S, *Matsumoto N (*: correspondence). Clinical exome sequencing in Neurology practice. (News & View) Nat Rev Neurol 10(12):676-678, 2014. doi: 10.1038/nrneurol.2014.213.
  • Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and *Matsumoto N. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun 5:4011, 2014. doi: 10.1038/ncomms5011.
  • Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Am J Med Genet Part A 164(1):231-236, 2014. doi: 10.1002/ajmg.a.36228.
  • *Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA. Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain Dev 36(3):259-263, 2014. doi: 10.1016/j.braindev.2013.03.006
  • *Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes. Clin Genet 85: 396-398, 2014
  • *Miyake N, Kosho T, Matsumoto N. Ehlers–Danlos syndrome associated with glycosaminoglycan abnormalities. J. Halper (ed.), Progress in heritable soft connective Tissue diseases, Advances in Experimental Medicine and Biology 802. Pp145-159, 2014 DOI 10.1007/978-94-007-7893-1_10. Springer Netherland, Houten, Netherland
  • Ichinose Y, Miwa M, Onohara A, Obi K, Shindo K, Saitsu H, Matsumoto N, *Takiyama Y. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol Clin Pract 4(2):175-177, 2014
  • Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.　A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. Brain Dev36(3): 272-273, 2014. doi: 10.1016/j.braindev.2013.03.007
  • Kutuk MS, Balta B, Kodera H, *Matsumoto N, *Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M. Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage? Childs Nerv Syst 30(3):419-424, 2014. doi: 10.1007/s00381-013-2338-7.
  • Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E・Hideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, *Matsumoto N, *Miyake N.A hemizygous GYG2 mutation causes Leigh syndrome. Hum Genet 133 (2):225-234, 2014
  • Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, *Matsumoto N, *Miyake N (*: co-corresponding). A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. Am J Med Genet Part A 164(4):1021-1028, 2014. doi: 10.1002/ajmg.a.36377.
  • Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, *Matsumoto N. Whole exome sequencing revealed causative biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Clin Genet 85(6):592-594, 2014. doi: 10.1111/cge.12215.
  • Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, *Matsumoto N, *Saitsu (*: co-correspondence). PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia 55(2):e13-7, 2014 Feb. doi: 10.1111/epi.12508.
  • Fujita A, Ochi N, Fujimaki H, Nakashima M, Tsurusaki Y, Saitsu H, *Matsumoto N, *Miyake N (*: co-correspondence). A novel WTX mutation in a female patient who has osteopathia striata with cranial sclerosis and hepatoblastoma. Am J Med Genet Part A 164A(4):998-1002, 2014. doi: 10.1002/ajmg.a.36369
  • Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, *Matsumoto N, *Saitsu H (*: co-correspondence). PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenet 59(5):292-295, 2014. doi: 10.1038/jhg.2014.18.
  • *Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-Fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy. Brain Dev 36(6):532-536, 2014 Jun. doi: 10.1016/j.braindev.2013.07.009.
  • Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, *Matsumoto N. Precise detection of chromosomal translocation or inversion breakpoints by whole genome sequencing. <b>J Hum Genet</b> 59(12):649-654, 2014 Dec. doi: 10.1038/jhg.2014.88.
  • Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, *Matsumoto N. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet 85(6):548-554, 2014 Jun. doi: 10.1111/cge.12225.
  • Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. Plos One 9(9):e108721, 2014. doi: 10.1371/journal.pone.0108721.
  • *Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY, Mizuguchi T. Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy. Brain Dev;36(6):523-527, 2014 Jun. doi: 10.1016/j.braindev.2013.07.002.
  • *Kato M#, *Saitsu H#, *Murakami Y (*: co-first authors, #: co-corespondence), Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology 82(18):1587-1596, 2014. doi: 10.1212/WNL.0000000000000389.
  • Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Matsumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE. Is Focal Cortical Dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia; 55(3):e22-26, 2014. doi: 10.1111/epi.12533.
  • Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima N, Tsurusaki Y, Miyake N, Ogata K, *Matsumoto N, *Saitsu H (*: co-correspondence). Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies, Neurology 82(24):2230-2237, 2014. doi: 10.1212/WNL.0000000000000535.
  • Ohba C, MD, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, MD, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki T, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence). Early Onset Epileptic Encephalopathy Caused by de novo SCN8A Mutations. Epilepsia ;55(7):994-1000, 2014. doi: 10.1111/epi.12668.
  • Imagawa E, Kayserili H, Nakashima M, Tsurusaki Y, Saitsu H, Nishimura G, Ikegawa S, *Matsumoto N*, *Miyake N (*: co-correspondence). Severe manifestations of Hand-Foot-Genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet Part A 164A(9):2398-2402, 2014. doi: 10.1002/ajmg.a.36648.
  • *Ohba C, *Nabatame S, (* denotes equal contribution) Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H#, Matsumoto N# (#: co-corresponding). De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. J Hum Genet 59(5):292-295, 2014. doi: 10.1038/jhg.2014.18.
  • *Matsumoto N. A message from the new Editor-in-Chief. J Hum Genet. 2014 59(1):1. doi: 10.1038/jhg.2013.127.
  • #Miyatake S, #Koshimizu E (# denotes equal contribution), Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, *Matsumoto N. Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord 24(7):642-647, 2014. doi: 10.1016/j.nmd.2014.04.002.
  • Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, *Tohyama J. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies arising from a novel SCN1A mutation. Epileptic Disord 16(2):208-212, 2014 Jun. doi: 10.1684/epd.2014.0649.
  • Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N*. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenet 15(3):193-200, 2014. doi: 10.1007/s10048-014-0408-y.
  • Ozawa T, *Koide R, Nakata Y, Saitsu H, Matsumoto N, Takahashi K, Nakano I, Orimo S. A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Am J Med Genet Part A 164(9):2388-2390, 2014. doi: 10.1002/ajmg.a.36635.
  • Yasuda Y, *Hashimoto R (* denotes a corresponding author), Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki T, Saitsu H, Matsumoto N, Miyake N, Takeda M. The NPHP1 duplication in autism spectrum disorder with normal intellectual ability: a case series. Ann Gen Psychiatry. 13:22, 2014. doi: 10.1186/s12991-014-0022-2
  • *Miyake N (*: corresponding author), Tsurusaki Y, Matsumoto N. Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet Part C 166(3):257-261, 2014. doi: 10.1002/ajmg.c.31406.
  • *Nakashima M (*: corresponding author), Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. J Hum Genet 59(8):471-474, 2014. doi: 10.1038/jhg.2014.51.
  • Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, *Unger S. Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder. Am J Med Genet Part A 164(9):2147-2152, 2014. doi: 10.1002/ajmg.a.36632.
  • *Yoshida K (*: correspondence), Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing (correspondence). J Hum Genet 59(10):589-590, 2014. doi: 10.1038/jhg.2014.75.
  • Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, *Matsumoto N. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome. J Hum Genet 59(12):691-693, 2014 Dec. doi: 10.1038/jhg.2014.95.
  • *Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, *Matsumoto N. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet 59(12):687-690, 2014 Dec.j. doi: 10.1038/jhg.2014.91.
  • Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, *Yoshida K. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. Sci Rep 4:7132, 2014 Nov 24. doi: 10.1038/srep07132.

2013

  • Yamashita S, Miyake N, Matsumoto N, Osaka H, Iai M, Aida N, Tanaka Y. Neuropathology of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and High Lactate caused by a homozygous mutation of DARS2. Brain Dev 35(4):312-316, 2013. doi: 10.1016/j.braindev.2012.05.007.
  • Tsurusaki Y, *Kosho T (# denotes equal contribution), Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H,1 Miyake N, *Matsumoto N (*: co-correspondence). Exome sequencing identifies an OFD1 mutation in a family of X-linked lethal congenital malformation syndrome: delineation of male Oral-facial-digital syndrome type 1. Clin Genet 83 (2): 135-144, 2013. doi: 10.1038/jhg.2012.117.
  • Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori F, Yamazaki A, Subo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, *Saitsu H. Phenotype spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 73(1): 48-57, 2013. doi: 10.1002/ana.23736.
  • Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. Am J Med Genet Part A 161A(5): 1073-1077, 2013. doi: 10.1002/ajmg.a.35661.
  • *Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, Ishii M, Saitsu H. Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. Brain Dev 35(3): 280-283, 2013. doi: 10.1016/j.braindev.2012.05.002.
  • Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, *Miyake N. The diagnostic utility of exome sequencing in Joubert syndrome related disorders. J Hum Genet 58(2): 113-115, 2013. doi: 10.1038/jhg.2012.117.
  • Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N. A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure. Mov Disord 28(4): 552-553, 2013. doi: 10.1002/mds.25296.
  • *Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding). KDM6A point mutations cause Kabuki syndrome. Hum Mut 34(1): 108-110, 2013. doi: 10.1002/humu.22229.
  • Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like. Am J Med Genet Part A 161A: 1543-1546, 2013.
  • Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, *Ozono K. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. Am J Med Genet Part A 161A(1): 203-207, 2013. doi: 10.1002/ajmg.a.35686.
  • *Miyake N#, Yano S# (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mut 34(3): 446-452, 2013. doi: 10.1002/humu.22257.
  • *Saitsu H#, Nishimura T#, Muramatsu K# (# denotes equal contribution), Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, *Mizushima, *Matsumoto N (*: co-corresponding). De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 45(4): 445-449, 2013. doi: 10.1038/ng.2562.
  • Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T. Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program. Blood 121 (10): 1839-1849, 2013. doi: 10.1182/blood-2012-06-437863.
  • Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N. Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing. Mol Vis 19: 384-389, 2013
  • Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA: Coffin-Siris Syndrome (April 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2013. Available at http://www.genetests.org. (http://www.ncbi.nlm.nih.gov/books/NBK131811/)
  • Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N. A case of Toriello–Carey syndrome with severe congenital tracheal stenosis. Am J Med Genet Part A 161(9):2291-2293, 2013. doi: 10.1002/ajmg.a.35861.
  • Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Stražišar BG, Hirabayashi S, Chitayat D, Reid DM, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, *Matsumoto N, *Saitsu H (* denotes co-corresponding). Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 81(11):992-998, 2013
  • Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. Plos One 8(9): e74167. doi: 10.1371/journal.pone.0074167
  • Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N. Co-occurrence of 22q11 deletion syndrome and HDR Syndrome. Am J Med Genet Part A 161(10):2576-2581, 2013. doi: 10.1002/ajmg.a.36083.
  • *Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, *Matsumoto N (*: co-corresponding). Clinical consequences of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet Part A 161(6):1221-1237, 2013.
  • Iida A, Nobuhiko Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N,* Ikegawa S. Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet 58(6):391-394, 2013. doi: 10.1038/jhg.2013.25.
  • Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis R, Chitayat D, Howard A, Ferraz-Leal G, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Superti-Furga A, Ohashi H, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S*. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 92(6):927-934, 2013. doi:10.1038/ng.2562
  • Nishiguchi KM, Tearle RG, Liu Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci USA 110(40): 16139-16144, 2013.
  • Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H. Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy. Epilepsia 54(7):1262-1269, 2013. doi: 10.1111/epi.12203
  • Ravenscroft G#, Miyatake S# (# denotes the first authors with equal contribution), Lehtokari V-L, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJN, Nishino I, Wallgren-Pettersson C, *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author). Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 93(1):6-18, 2013. doi: 10.1016/j.ajhg.2013.05.004.
  • *Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Yoko Hiraki, Kitanaka S, Matsubara Y, Makita T, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, *Matsumoto N, Niikawa N. MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome. Am J Med Genet Part A 161(9):2234-2243, 2013. doi: 10.1002/ajmg.a.36072.
  • Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*. Y-Chromosome-linked B- and NK-cell deficiency in mice. J Immunol 190 (12): 6209-6220, 2013. doi: 10.4049/jimmunol.1300303.
  • *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N. Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation. Intern Med 52(14): 1629-1633, 2013
  • Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N. A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter. Am J Med Genet Part A 161(8):1904-1909, 2013. doi: 10.1002/ajmg.a.36026.
  • #Nakamura K, #Kodera H, #Akita T (# denotes equal contribution), Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama T, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima N, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, *Matsumoto N, *Saitsu H (* denotes co-correspondence) De novo mutations in GNAO1 encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet;　93(3):496-505, 2013. doi: 10.1016/j.ajhg.2013.07.014.
  • Kodera H#, Nakamura K# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding). De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mut 34(12): 1708-1714, 2013. doi: 10.1002/humu.22446.
  • Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence). Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood. Neurogenet 14 (3-4): 225-232, 2013. doi: 10.1007/s10048-013-0375-8.
  • Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar M, Hashem A, Manton N, Muntoni F, North KN, Sandaradura S , Nishino I, Hayashi YK, Sewry CA, Thompson EM, Brownstein CA, Yu TW, Allcock RJN, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet 93(6):1108-1117, 2013. doi: 10.1016/j.ajhg.2013.10.020.
  • Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence). A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome. J Hum Genet 58(12):822-824, 2013. doi: 10.1038/jhg.2013.104.
  • *Kato M, Yamagata T,Kubota M, Arai H,Yamashita S,Nakagawa T,Fujii T,Sugai K,Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H. Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations. Epilepsia 54(7): 1282-1287, 2013

2012

  • Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, *Miyake N, *Matsumoto N (*: co-corresponding). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44(4):376-378, 2012
  • *Saitsu H, Kato M, Matsumoto N. Haploinsufficiency of STXBP1 and Ohtahara syndrome. Jasper’s basic mechanism of the epilepsies, 4th edition , edited by Noebels J, Avoli M, Rogawski M, Olsen RW, and Delgado-Escueta AV. Oxford University Press Page 824-834, 2012.
  • Yoneda Y, Haginoya K, Arai H, Tsurusaki Y, Doi H, Miyake N, Osaka H, Kato M, Matsumoto N, *Saitsu H. De novo and inherited mutations in the gene encoding a type IV collagen α2 chain (COL4A2) cause porencephaly. Am J Hum Genet 90 (1):86-90, 2012
  • Sakai H, Suzuki S, Mizuguchi T, Imoto K, Doi H, Kikuchi M, Tsurusaki T, Saitsu H, Miyake N, Masuda M, *Matsumoto N. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet 131: 591-599, 2012
  • Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki T, Doi H, Miyake N, Ryoo N-K, Kim JH, Yu KS,*Matsumoto N. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 57(3): 197-201, 2012
  • Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, *Matsumoto N. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like syndrome. J Hum Genet 50(3): 207-211, 2012
  • *Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 34(5): 364-367, 2012
  • Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, *Matsumoto N. Homozygous c.14576G>A Variant of RNF213 Predicts Early-Onset and Severe Form of Moyamoya Disease. Neurology 78: 803-810, 2012
  • *Hamdan FF#, Saitsu H# (# denotes equal contribution), Masuko K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. Mutations in SPTAN1 in intellectual disability and pontocerebellar atrophy. Eur J Hum Genet 20 (7): 796-800, 2012.
  • *Saitsu H#, Kato M# (# denotes equal contribution), Shimono M, Senju A, Tanabe S, Kimura T, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet 81(4): 399-402, 2012
  • Motobayashi M, Nishimura-Tadaki A, Inaba Y, *Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature. Am J Med Genet Part A 158 (4): 861-868, 2012
  • *Osaka H, Takagi A , Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Shinka T, Kuhara T, Matsumoto N. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. Mol Genet Metab 106(1): 43-47, 2012
  • *Writzl K, Primec ZR, Stražišar BG, Osredkar D, Pečarič-Meglič N, Kranjc BS, Nishiyama K, Matsumoto N, Saitsu H. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia 53(6): e106-110, 2012
  • *Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 72(2): 298-300, 2012
  • *Terao Y, Saitsu H, Segawa M, Kondo Y, Sakamoto K, Matsumoto N, Tsuji S, Nomura Y. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. J Neurol Sci 320(1-2): 102-105, 2012
  • *Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 53(8): 1441-1449, 2012
  • Miyake N#, Elcioglu NH# (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet49(8): 533-538, 2012
  • Miyatake S, Miyake N, Doi H, Ogata K, Kawai M, *Matsumoto N. A novel SACS mutation in a Japanese family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Intern Med 51: 2221-2226, 2012

2011

  • Okada I#, Hamanoue H#, (# denotes equal contribution) Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Kiyomi Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, *Matsumoto N, *Saitsu H. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 88(1): 30-41, 2011
  • *Tohyama J, Kato M, N, Kawasaki S, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N. Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. Am J Med Genet 155(1): 130-131, 2011
  • Furuichi T, Dai J, Cho T-J, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim O-H, Nishimura G, *Ikegawa S. CANT1 is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet 48(1): 32-37, 2011
  • *Saitsu H, Hoshino H, Kato M, Nishiyama N, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Paternal mosaicism of a STXBP1 mutation in Ohtahara syndrome. Clin Genet 80 (5):484-488, 2011.
  • *Yano S, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Baskin B, Ray PN. Familial Simpson-Golabi-Behmel syndrome: Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin Genet 80 (5): 466-471, 2011.
  • Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, *Matsumoto N. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. J Hum Genet 56(2) 156?160, 2011
  • Hiraki Y, Nishimura A, Hayashidani M, Terada Y, Nishimura G, Okamoto N, Nishina S, Tsurusaki Y, Doi H, Saitsu H, Miyake N, *Matsumoto N. A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty. Am J Med Genet 152(2): 409-414, 2011
  • *Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Mika Kosaki R, Sato A, Matsumoto N, Iizuka S. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses on three patients with chromosomal defects at 6p25. Am J Med Genet Part A 155 (12): 2925-2932, 2011
  • Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, *Matsumoto N. De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis. J Hum Genet 56 (5): 343-347, 2011.
  • *Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Clin Genet 80(3): 293-296, 2011.
  • Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, *Matsumoto N. Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. Int J Immunogenet 38 (4): 287-293, 2011
  • Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, *Matsumoto N, *Miyake N. Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing. J Med Genet 48 (9): 606-609, 2011.
  • *Narumi Y, Shiihara T, Yoshihasi H, Sakazume S, van der Knaape MS, Nishimura-Tadaki A, Matsumoto N, Fukushima Y. Hypomyelination with atrophy of the basal ganglia and Cerebellum (H-ABC) in an infant with Down syndrome. Clin Dysmorphol 20 (3): 166-167, 2011
  • Dai J, Kim O-K, Cho T-J, Miyake N, Song H-R, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, *Ikegawa S. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. J Hum Genet 56(5): 398-400, 2011.
  • *Saitsu H, Matsumoto N. Genetic commentary: De novo mutations in epilepsy. Dev Med Child Neurol 53 (9):806-807, 2011.
  • Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, *Kosho T. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients. Am J Med Genet 155A(8): 1949-1958, 2011
  • *Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama N, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet 158A (1):199-205, 2011
  • *Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, *Matsumoto N. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 90 (1):86-90, 2012.
  • Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X-linked leukodystrophy. Clin Genet 80 (2): 161-166, 2011
  • Hannibal MC#, Buckingham KJ#, Ng SB#, (# denotes equal contribution) Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura KI, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, *Bamshad MJ. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet 155A (7): 1511-1516, 2011.
  • *Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Sugahara K, Matsumoto N. A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “Dermatan sulfate-deficient adducted thumb clubfoot syndrome”. Which name is appropriate, “Adducted thumb clubfoot syndrome” o r “Ehlers Danlos syndrome”? Hum Mut 32(12):1507-1509, 2011
  • Doi H, Yoshida K, T Yasuda, Fukuda M, Fukuda Y, Morita H, Ikeda S-i, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, *Matsumoto N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 89(2):320-327, 2011.
  • *Abdel-Salam GMH, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, *Matsumoto N. A homozygous Mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet Part A 155 (11): 2885-2896, 2011.

2010

  • Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, Beck A, Tabor H, Cooper G, Mefford H, Lee C, Turner E, Smith J, Rieder M, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson D, *Bamshad M, *Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42(9): 790-793, 2010.
  • Shiihara T, Maruyama K-i, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S. A case of Baraitser-Winter syndrome with unusual brain MRI findings of pachygyria, subcortical band heterotopia and periventricular heterotopias. Brain Dev 32(6), 502-505, 2010.
  • Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 86(6):881-889, 2010.
  • Saitsu H, Kato M, Okada I, Orii KE, Kondo N, Wada T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Osaka H, Hayasaka K, Matsumoto N. STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern. Epilepsia 51(12): 2397-2405, 2010
  • Sakai H#, Yoshida K# (#denotes equal contribution), Shimizu Y, Morita H, Ikeda S-i, Matsumoto N. Analysis of an insertion mutation in a cohort of 93 patients with spinocerebellar ataxia type 31 (SCA31) from Nagano, Japan. Neurogenet 11(4): 409-415, 2010
  • Osaka H, Yamamoto R, Hamanoue H, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease. Ann Neurol 68(2): 250-254, 2010
  • Nishimura A, Hiraki Y, Shimoda H, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation. Am J Med Genet 152A(5):1322-1325, 2010
  • Komoike Y, Fujii K, Nishimura A, Hiraki Y, Michiko, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi M, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. Genesis 48(4): 233-243, 2010.
  • Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and (99m)Tc-ECD brain perfusion SPECT findings. J Neurol Sci 290 (1-2): 172-176, 2010.
  • Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki T, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome. Hum Mut 31(8): 966-974, 2010
  • Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyamab M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations. Am J Med Genet 152A (6): 1333-1346, 2010.
  • Kimura S, Saitsu H, Blanka A, Schaumann BA, Shiota K, Matsumoto N, and Ishibashi M. Rudimentary Claws and Pigmented Nail-like Structures on the Distal Tips of the Digits of Wnt7a Mutant Mice: Wnt7a Suppresses Nail-like Structure Development in Mice. Birth Defects Res A Clin Mol Teratol 88(6):487-496, 2010
  • Kanazawa K, Kumada S, Mitsuhiro K, Saitsu H, Kurihara E, Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord 25(13):2265-2267, 2010
  • Yamada-Okabe T, Imamura K, Kawaguchi N, Sakai H, Yamashita M, Matsumoto N. Functional characterization of the zebrafish WHSC1-related gene, a homologue of human NSD2. Biochem Biophys Res Commun 402(2): 335-339, 2010.