PUBLICATIONS

業績

2021

  • Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M. Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review. Epilepsy Behav Rep. 2021;15:100417. doi: 10.1016/j.ebr.2020.100417.
  • Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D’Souza P, Bodurtha J, Mu W, Baranano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E, Undiagnosed Diseases N, Matsumoto N, Inazawa J, Walkiewicz M, Ounap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021;7(4). doi: 10.1126/sciadv.abe2116.
  • den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistiene L, Coon H, Study DDD, Delot EC, Demurger F, Denomme-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kucinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preiksaitiene E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers L. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021;108(2):346-56. doi: 10.1016/j.ajhg.2021.01.007.
  • Haginoya K, Sekiguchi F, Munakata M, Yokoyama H, Hino-Fukuyo N, Uematsu M, Jin K, Nagamatsu K, Ando T, Miyake N, Matsumoto N, Kure S. A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor. Epilepsy Behav Rep. 2021;15:100405. doi: 10.1016/j.ebr.2020.100405.
  • Hagiwara H, Matsumoto H, Uematsu K, Zaha K, Sekinaka Y, Miyake N, Matsumoto N, Nonoyama S. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome. Brain Dev. 2021;43(2):337-42. doi: 10.1016/j.braindev.2020.09.007.
  • Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants. Brain Dev. 2021. doi: 10.1016/j.braindev.2020.12.006.
  • Mitsuhashi S, Frith MC, Matsumoto N. Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population. BMC Med Genomics. 2021;14(1):17. doi: 10.1186/s12920-020-00853-3.
  • Miyake N, de Oliveira Stephan B, Kim CA, Matsumoto N. A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion. Clin Genet. 2021. doi: 10.1111/cge.13909.
  • Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N. Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. Genomics. 2021;113(1 Pt 2):1044-53. doi: 10.1016/j.ygeno.2020.10.038.
  • Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N, Kato M. Clinical variations of epileptic syndrome associated with PACS2 variant. Brain Dev. 2021;43(2):343-7. doi: 10.1016/j.braindev.2020.10.006.
  • Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N. Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. J Hum Genet. 2021. doi: 10.1038/s10038-020-00893-8.
  • Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. Dev Med Child Neurol. 2021;63(1):111-5. doi: 10.1111/dmcn.14666.
  • Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M. Any modality of renal replacement therapy can be a treatment option for Joubert syndrome. Sci Rep. 2021;11(1):462. doi: 10.1038/s41598-020-80712-4.
  • Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. J Hum Genet. 2021. doi: 10.1038/s10038-020-00891-w
  • Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. J Hum Genet. 2021;66(4):401-7. doi: 10.1038/s10038-020-00853-2.
  • Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N, Beheshti FH, Chaleshtori ARS. The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. J Hum Genet. 2021;66(4):445-8. doi: 10.1038/s10038-020-0809-8.
  • Otoshi R, Baba T, Shintani R, Kitamura H, Yamaguchi Y, Hamanoue H, Mizuguchi T, Matsumoto N, Okudela K, Takemura T, Ogura T. Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita. Intern Med. 2021;60(8):1257-63. doi: 10.2169/internalmedicine.5143-20.
  • Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev. 2021;43(3):402-10. doi: 10.1016/j.braindev.2020.10.013.
  • Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y, Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa N, Takada H. Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. Brain Dev. 2021;43(3):475-81. doi: 10.1016/j.braindev.2020.10.011.
  • Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M. Any modality of renal replacement therapy can be a treatment option for Joubert syndrome. Sci Rep. 2021;11(1):462. doi: 10.1038/s41598-020-80712-4.
  • Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S. Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings. J Autism Dev Disord. 2021. doi: 10.1007/s10803-021-04910-3.
  • Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum Mutat. 2021;42(1):66-76. doi: 10.1002/humu.24130.
  • Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021;42(1):50-65. doi: 10.1002/humu.24129.
  • Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. De novo ATP1A3 variants cause polymicrogyria. Sci Adv. 2021;7(13). doi: 10.1126/sciadv.abd2368.
  • Kandasamy LC, Tsukamoto M, Banov V, Tsetsegee S, Nagasawa Y, Kato M, Matsumoto N, Takeda J, Itohara S, Ogawa S, Young LJ, Zhang Q. Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models. Hum Mol Genet. 2021. doi: 10.1093/hmg/ddab052.
  • Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S, Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y, Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Whole genome sequencing of 45 Japanese patients with intellectual disability. Am J Med Genet A. 2021;185(5):1468-80. doi: 10.1002/ajmg.a.62138.
  • Honjo RS, Castro MAA, Ferraciolli SF, Soares Junior LAV, Pastorino AC, Bertola DR, Miyake N, Matsumoto N, Kim CA. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Am J Med Genet A. 2021;185(5):1561-8. doi: 10.1002/ajmg.a.62140.
  • Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med. 2021. doi: 10.1038/s41436-021-01119-8.
  • Fukuoka M, Okazaki S, Kim K, Nukui M, Inoue T, Kuki I, Kawawaki H, Nakashima M, Matsumoto N. Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant. Epilepsia Open. 2021;6(1):230-4. doi: 10.1002/epi4.12431.
  • Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021;108(4):739-48. doi: 10.1016/j.ajhg.2021.02.015.
  • Furukawa S, Kunii M, Doi H, Kondo N, Ogura A, Hirabuki K, Itoh T, Matsumoto N, Tanaka F, Katsuno M, Ito Y. Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy. Front Neurol. 2021;12:622355. doi: 10.3389/fneur.2021.622355.
  • Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021;9:631428. doi: 10.3389/fcell.2021.631428.
  • Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, Matsumoto N. Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome. Clin Case Rep. 2021;9(3):1711-5. doi: 10.1002/ccr3.3883.
  • Tsuchida N, Kunishita Y, Uchiyama Y, Kirino Y, Enaka M, Yamaguchi Y, Taguri M, Yamanaka S, Takase-Minegishi K, Yoshimi R, Fujii S, Nakajima H, Matsumoto N. Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis. Ann Rheum Dis. 2021. doi: 10.1136/annrheumdis-2021-220089.
  • Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment. Brain. 2021. doi: 10.1093/brain/awab021.
  • Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021;12(1):2046. doi: 10.1038/s41467-021-22340-8.
  • Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice. Nat Commun. 2021;12(1):2107. doi: 10.1038/s41467-021-22389-5.

2020

  • Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. Epilepsy Behav Rep. 2020;13:100349. doi: 10.1016/j.ebr.2019.100349.
  • Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, Matsumoto N, Miyake N, Kosho T. Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. Mol Genet Genomic Med. 2020;8(5):e1197. doi: 10.1002/mgg3.1197.
  • Watanabe H, Higashimoto K, Miyake N, Morita S, Horii T, Kimura M, Suzuki T, Maeda T, Hidaka H, Aoki S, Yatsuki H, Okamoto N, Uemura T, Hatada I, Matsumoto N, Soejima H. DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer. FASEB J. 2020;34(1):960-73. doi: 10.1096/fj.201901757R.
  • Mitsuhashi S, Matsumoto N. Long-read sequencing for rare human genetic diseases. J Hum Genet. 2020;65(1):11-9. doi: 10.1038/s10038-019-0671-8.
  • Endo W, Ikemoto S, Togashi N, Miyabayashi T, Nakajima E, Hamano SI, Shibuya M, Sato R, Takezawa Y, Okubo Y, Inui T, Kato M, Sengoku T, Ogata K, Hamanaka K, Mizuguchi T, Miyatake S, Nakashima M, Matsumoto N, Haginoya K. Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. Brain Dev. 2020;42(2):199-204. doi: 10.1016/j.braindev.2019.10.006.
  • Izumi Y, Hamaguchi A, Miura R, Nakagawa T, Nakagawa M, Saida K, Miyake N, Nagayoshi Y, Kakizoe Y, Miyoshi T, Kohda Y, Misumi Y, Matsumoto N, Ando Y, Mukoyama M. Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis. CEN Case Rep. 2020;9(1):59-64. doi: 10.1007/s13730-019-00429-w.
  • Okamoto N, Arai H, Onishi T, Mizuguchi T, Matsumoto N. Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation. Congenit Anom (Kyoto). 2020;60(1):40-1. doi: 10.1111/cga.12330.
  • Ohko K, Nakajima K, Nakajima H, Hiraki Y, Kubota K, Fukao T, Miyatake S, Matsumoto N, Sano S. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil. J Dermatol. 2020;47(3):306-10. doi: 10.1111/1346-8138.15216.
  • Inui T, Iwama K, Miyabayashi T, Sato R, Okubo Y, Endo W, Togashi N, Kakisaka Y, Kikuchi A, Mizuguchi T, Kure S, Matsumoto N, Haginoya K. Two males with sick sinus syndrome in a family with 0.6kb deletions involving major domains in MECP2. Eur J Med Genet. 2020;63(3):103769. doi: 10.1016/j.ejmg.2019.103769.
  • Yotsumoto Y, Harada A, Tsugawa J, Ikura Y, Utsunomiya H, Miyatake S, Matsumoto N, Kanemura Y, Hashimoto-Tamaoki T. Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report. Mol Clin Oncol. 2020;12(4):329-35. doi: 10.3892/mco.2020.1988.
  • Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch’ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020;106(4):549-58. doi: 10.1016/j.ajhg.2020.02.011.
  • Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nurnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmuller J. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum Mutat. 2020;41(3):591-9. doi: 10.1002/humu.23964.
  • Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, Asano T, Kudo Y, Ikeda T, Kubota S, Kunii M, Kitazawa Y, Tada M, Okamoto M, Joki H, Takeuchi H, Matsumoto N, Tanaka F. Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. J Hum Genet. 2020;65(5):475-80. doi: 10.1038/s10038-020-0733-y.
  • Ohori S, Mitsuhashi S, Ben-Haim R, Heyman E, Sengoku T, Ogata K, Matsumoto N. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly. J Hum Genet. 2020;65(5):481-5. doi: 10.1038/s10038-020-0728-8.
  • Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H. Life-threatening muscle complications of COL4A1-related disorder. Brain Dev. 2020;42(1):93-7. doi: 10.1016/j.braindev.2019.09.001.
  • Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. Am J Hum Genet. 2020;106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011.
  • Kubota K, Yamamoto T, Miyatake S, Matsumoto N, Fukao T. Novel variants of ABCC9 in Japanese children with Cantu syndrome. Pediatr Int. 2020;62(3):410-2. doi: 10.1111/ped.14098.
  • Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008.
  • Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bezieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogne B, Curry C, D’Agostino MD, Di Donato N, Faivre L, Heron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Kury S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020;106(3):404-20 e8. doi: 10.1016/j.neuron.2020.01.042.
  • Kaya Ozcora GD, Miyatake S, Matsumoto N, Canpolat M, Erdogan M, Bayramov R, Kumandas S. PEX10-related autosomal recessive cerebellar ataxia with hearing loss. Acta Neurol Belg. 2020;120(2):429-32. doi: 10.1007/s13760-018-0987-8.
  • Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N. Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. J Hum Genet. 2020;65(8):667-74. doi: 10.1038/s10038-020-0754-6.
  • Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N. De novo variants in CUL3 are associated with global developmental delays with o r without infantile spasms. J Hum Genet. 2020;65(9):727-34. doi: 10.1038/s10038-020-0758-2.
  • Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N. A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. J Hum Genet. 2020;65(9):751-7. doi: 10.1038/s10038-020-0765-3.
  • Suzuki T, Suzuki T, Raveau M, Miyake N, Sudo G, Tsurusaki Y, Watanabe T, Sugaya Y, Tatsukawa T, Mazaki E, Shimohata A, Kushima I, Aleksic B, Shiino T, Toyota T, Iwayama Y, Nakaoka K, Ohmori I, Sasaki A, Watanabe K, Hirose S, Kaneko S, Inoue Y, Yoshikawa T, Ozaki N, Kano M, Shimoji T, Matsumoto N, Yamakawa K. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. Ann Clin Transl Neurol. 2020;7(7):1117-31. doi: 10.1002/acn3.51093.
  • Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S. Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. NPJ Breast Cancer. 2020;6:25. doi: 10.1038/s41523-020-0163-1.
  • Mitsuhashi S, Ohori S, Katoh K, Frith MC, Matsumoto N. A pipeline for complete characterization of complex germline rearrangements from long DNA reads. Genome Med. 2020;12(1):67. doi: 10.1186/s13073-020-00762-1.
  • Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Nonsense variants of STAG2 result in distinct congenital anomalies. Hum Genome Var. 2020;7:26. doi: 10.1038/s41439-020-00114-w.
  • Yamamoto A, Saito Y, Oyama Y, Watanabe Y, Ikeda A, Takayama R, Ikeda H, Takeshita S, Takumi I, Itai T, Miyatake S, Matsumoto N. Effect of total callosotomy on KCNQ2-related intractable epilepsy. Brain Dev. 2020;42(8):612-6. doi: 10.1016/j.braindev.2020.05.005.
  • Nishikawa A, Otani Y, Ito S, Nagata S, Shiota M, Takanashi JI, Nakashima M, Saitsu H, Matsumoto N, Oguni H. A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS). Epileptic Disord. 2020;22(4):476-81. doi: 10.1684/epd.2020.1183.
  • Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia Open. 2020;5(3):442-50. doi: 10.1002/epi4.12417.
  • Togashi N, Fujita A, Shibuya M, Uneoka S, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Jin K, Matsumoto N, Haginoya K. Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy. Brain Dev. 2020;42(9):696-9. doi: 10.1016/j.braindev.2020.06.011.
  • Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet. 2020. doi: 10.1136/jmedgenet-2020-106896.
  • Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F. De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies. J Neurol Sci. 2020;416:117047. doi: 10.1016/j.jns.2020.117047.
  • Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. Eur J Med Genet. 2020;63(12):104061. doi: 10.1016/j.ejmg.2020.104061.
  • Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. J Med Genet. 2020. doi: 10.1136/jmedgenet-2020-107137.
  • Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Ann Neurol. 2020;88(2):348-62. doi: 10.1002/ana.25809.
  • Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. Reply to “GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy”. Ann Neurol. 2020;88(3):642-3. doi: 10.1002/ana.25819.
  • Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N, Beheshti FH, Chaleshtori ARS. The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. J Hum Genet. 2020. doi: 10.1038/s10038-020-0809-8.
  • Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. J Hum Genet. 2020. doi: 10.1038/s10038-020-00831-8.
  • Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. J Hum Genet. 2020. doi: 10.1038/s10038-020-00853-2.
  • Hagiwara H, Matsumoto H, Uematsu K, Zaha K, Sekinaka Y, Miyake N, Matsumoto N, Nonoyama S. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome. Brain Dev. 2021;43(2):337-42. doi: 10.1016/j.braindev.2020.09.007.
  • Akamine S, Okuzono S, Yamamoto H, Setoyama D, Sagata N, Ohgidani M, Kato TA, Ishitani T, Kato H, Masuda K, Matsushita Y, Ono H, Ishizaki Y, Sanefuji M, Saitsu H, Matsumoto N, Kang D, Kanba S, Nakabeppu Y, Sakai Y, Ohga S. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. FASEB J. 2020;34(12):16601-21. doi: 10.1096/fj.202001113R.
  • Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum Mutat. 2020. doi: 10.1002/humu.24130.
  • Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2020. doi: 10.1002/humu.24129.
  • Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N. Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant. Neurol Genet. 2020;6(6):e527. doi: 10.1212/NXG.0000000000000527.
  • Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal o r episodic symptoms in children. Dev Med Child Neurol. 2021;63(1):111-5. doi: 10.1111/dmcn.14666.
  • Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N. Whole exome sequencing of fetal structural anomalies detected by ultrasonography. J Hum Genet. 2020. doi: 10.1038/s10038-020-00869-8.
  • Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N. Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. Genomics. 2020. doi: 10.1016/j.ygeno.2020.10.038.
  • Otoshi R, Baba T, Shintani R, Kitamura H, Yamaguchi Y, Hamanoue H, Mizuguchi T, Matsumoto N, Okudela K, Takemura T, Ogura T. Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita. Intern Med. 2020. doi: 10.2169/internalmedicine.5143-20.
  • Ogasawara M, Nakagawa E, Takeshita E, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M. Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report. Mol Syndromol. 2020;11(4):232-7. doi: 10.1159/000510172.
  • Morita A, Enokizono T, Ohto T, Tanaka M, Watanabe S, Takada Y, Iwama K, Mizuguchi T, Matsumoto N, Morita M, Takashima S, Shimozawa N, Takada H. Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. Brain Dev. 2020. doi: 10.1016/j.braindev.2020.10.011.
  • Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N, Kato M. Clinical variations of epileptic syndrome associated with PACS2 variant. Brain Dev. 2021;43(2):343-7. doi: 10.1016/j.braindev.2020.10.006.
  • Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev. 2020. doi: 10.1016/j.braindev.2020.10.013.
  • Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N. Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Hum Genome Var. 2020;7(1):43. doi: 10.1038/s41439-020-00131-9.
  • Ishihara T, Okamoto T, Saida K, Saitoh Y, Oda S, Sano T, Yoshida T, Morita Y, Fujita A, Fukuda H, Miyake N, Mizuguchi T, Saito Y, Sekijima Y, Matsumoto N, Takahashi Y. Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy. Neurol Genet. 2020;6(6):e531. doi: 10.1212/NXG.0000000000000531.
  • Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv. 2020;6(51). doi: 10.1126/sciadv.abd7197.
  • Mishima K, Fujita A, Mizuno S, Matsushita M, Nagata T, Kamiya Y, Miyake N, Matsumoto N, Imagama S, Kitoh H. Legg-Calve-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel MKKS/BBS6 mutation. Clin Case Rep. 2020;8(12):3110-5. doi: 10.1002/ccr3.3357.

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