PUBLICATIONS

• 〜2009
• 2010〜2019
• 2020
• 2021
• 2022
• 2023

2023

• Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R, Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties. Ann Neurol. 2023;94(2):332-49. doi: 10.1002/ana.26662.
• Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y, Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023;110(4):663-80. doi: 10.1016/j.ajhg.2023.03.001.
• Fujita A, Kato M, Sugano H, Iimura Y, Suzuki H, Tohyama J, Fukuda M, Ito Y, Baba S, Okanishi T, Enoki H, Fujimoto A, Yamamoto A, Kawamura K, Kato S, Honda R, Ono T, Shiraishi H, Egawa K, Shirai K, Yamamoto S, Hayakawa I, Kawawaki H, Saida K, Tsuchida N, Uchiyama Y, Hamanaka K, Miyatake S, Mizuguchi T, Nakashima M, Saitsu H, Miyake N, Kakita A, Matsumoto N. An integrated genetic analysis of epileptogenic brain malformed lesions. Acta Neuropathol Commun. 2023;11(1):33. doi: 10.1186/s40478-023-01532-x.
• Fukuda H, Mizuguchi T, Doi H, Kameyama S, Kunii M, Joki H, Takahashi T, Komiya H, Sasaki M, Miyaji Y, Ohori S, Koshimizu E, Uchiyama Y, Tsuchida N, Fujita A, Hamanaka K, Misawa K, Miyatake S, Tanaka F, Matsumoto N. Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias. J Hum Genet. 2023;68(10):689-97. doi: 10.1038/s10038-023-01170-0.
• Green TE, Fujita A, Ghaderi N, Heinzen EL, Matsumoto N, Klein KM, Berkovic SF, Hildebrand MS. Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma. Neurobiol Dis. 2023;185:106261. doi: 10.1016/j.nbd.2023.106261.
• Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Am J Hum Genet. 2023;110(7):1068-85. doi: 10.1016/j.ajhg.2023.06.001.
• Hamanaka K, Yamauchi D, Koshimizu E, Watase K, Mogushi K, Ishikawa K, Mizusawa H, Tsuchida N, Uchiyama Y, Fujita A, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans. Genome Res. 2023;33(3):435-47. doi: 10.1101/gr.277335.122.
• Higashijima T, Shirozu H, Saitsu H, Sonoda M, Fujita A, Masuda H, Yamamoto T, Matsumoto N, Kameyama S. Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling. Heliyon. 2023;9(4):e14712. doi: 10.1016/j.heliyon.2023.e14712.
• Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, Saitsu H, Matsumoto N, Kurosawa K, Goto T. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan. Front Neurol. 2023;14:1085228. doi: 10.3389/fneur.2023.1085228.
• Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clin Genet. 2023;103(4):383-91. doi: 10.1111/cge.14296.
• Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N. Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants. Clin Genet. 2023;103(5):590-5. doi: 10.1111/cge.14292.
• Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. A novel NONO variant that causes developmental delay and cardiac phenotypes. Sci Rep. 2023;13(1):975. doi: 10.1038/s41598-023-27770-6.
• Kanazashi Y, Maejima K, Johnson TA, Sasagawa S, Jikuya R, Hasumi H, Matsumoto N, Maekawa S, Obara W, Nakagawa H. Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer. Int J Mol Sci. 2023;24(24). doi: 10.3390/ijms242417212.
• Kawaguchi T, Okanishi T, Okazaki T, Aoki C, Kasagi N, Adachi K, Yoshida Y, Miyake N, Matsumoto N, Maegaki Y. Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant. Yonago Acta Med. 2023;66(4):463-6. doi: 10.33160/yam.2023.11.005.
• Kawano O, Saito T, Sumitomo N, Takeshita E, Shimizu-Motohashi Y, Nakagawa E, Mizuma K, Tanifuji S, Itai T, Miyatake S, Matsumoto N, Takahashi Y, Mizusawa H, Sasaki M. Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality. Brain Dev. 2023;45(4):231-6. doi: 10.1016/j.braindev.2022.12.004.
• Kido J, Egami K, Misumi Y, Sugawara K, Tsuchida N, Matsumoto N, Ueda M, Nakamura K. X-linked intellectual disability related to a novel variant of KLHL15. Hum Genome Var. 2023;10(1):21. doi: 10.1038/s41439-023-00248-7.
• Kobayashi T, Fujishima F, Tokodai K, Sato C, Kamei T, Miyake N, Matsumoto N, Kosho T. Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14). Genes (Basel). 2023;14(5). doi: 10.3390/genes14051079.
• Kobayashi Y, Tohyama J, Akasaka N, Yamada K, Hojo M, Seki E, Miura M, Soma N, Ono T, Kato M, Nakashima M, Saitsu H, Matsumoto N. The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Hum Genome Var. 2023;10(1):20. doi: 10.1038/s41439-023-00247-8.
• Kodama K, Aoyama H, Murakami Y, Takanashi JI, Koshimizu E, Miyatake S, Iwama K, Mizuguchi T, Matsumoto N, Omata T. A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants. Radiol Case Rep. 2023;18(3):1217-20. doi: 10.1016/j.radcr.2022.11.033.
• Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, Nakajima Y, Takase-Minegishi K, Yoshimi R, Miyazaki T, Hagihara M, Yamazaki E, Kirino Y, Matsumoto N, Nakajima H. Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. Int J Hematol. 2023;118(4):494-502. doi: 10.1007/s12185-023-03598-8.
• Liao YC, Wei CY, Chang FP, Chou YT, Hsu SL, Chung CP, Mizuguchi T, Matsumoto N, Yet SF, Lee YC. NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke. 2023. doi: 10.1161/strokeaha.122.041848.
• Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, Kato A, Mori I, Morita H, Matsubara A, Marumo Y, Ito Y, Machiyama T, Shirai T, Ishii T, Kishibe M, Yoshida Y, Hirata S, Akao S, Higuchi A, Rokutanda R, Nagahata K, Takahashi H, Katsuo K, Ohtani T, Fujiwara H, Nagano H, Hosokawa T, Ito T, Haji Y, Yamaguchi H, Hagino N, Shimizu T, Koga T, Kawakami A, Kageyama G, Kobayashi H, Aoki A, Mizokami A, Takeuchi Y, Motohashi R, Hagiyama H, Itagane M, Teruya H, Kato T, Miyoshi Y, Kise T, Yokogawa N, Ishida T, Umeda N, Isogai S, Naniwa T, Yamabe T, Uchino K, Kanasugi J, Takami A, Kondo Y, Furuhashi K, Saito K, Ohno S, Kishimoto D, Yamamoto M, Fujita Y, Fujieda Y, Araki S, Tsushima H, Misawa K, Katagiri A, Kobayashi T, Hashimoto K, Sone T, Hidaka Y, Ida H, Nishikomori R, Doi H, Fujimaki K, Akasaka K, Amano M, Matsushima H, Kashino K, Ohnishi H, Miwa Y, Takahashi N, Takase-Minegishi K, Yoshimi R, Kirino Y, Nakajima H, Matsumoto N. Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome. Rheumatology (Oxford). 2023. doi: 10.1093/rheumatology/kead425.
• Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Molecular diagnosis of 405 individuals with autism spectrum disorder. Eur J Hum Genet. 2023. doi: 10.1038/s41431-023-01335-7.
• Miyoshi Y, Kise T, Morita K, Okada H, Imadome KI, Tsuchida N, Maeda A, Uchiyama Y, Kirino Y, Matsumoto N, Yokogawa N. Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report. Mod Rheumatol Case Rep. 2023;8(1):199-204. doi: 10.1093/mrcr/rxad041.
• Mizuguchi T, Toyota T, Koshimizu E, Kameyama S, Fukuda H, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Misawa K, Miyatake S, Adachi H, Matsumoto N. Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation. J Hum Genet. 2023;68(12):875-8. doi: 10.1038/s10038-023-01187-5.
• Mori T, Sakamoto M, Tayama T, Goji A, Toda Y, Fujita A, Mizuguchi T, Urushihara M, Matsumoto N. A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation. Brain Dev. 2023. doi: 10.1016/j.braindev.2023.03.001.
• Moriyama K, Mizuno T, Suzuki T, Inaji M, Maehara T, Fujita A, Kato M, Matsumoto N. ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report. Brain Dev. 2023;45(1):77-81. doi: 10.1016/j.braindev.2022.08.009.
• Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K. Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome. J Neurol Sci. 2023;447:120597. doi: 10.1016/j.jns.2023.120597.
• Noda Y, Kido J, Misumi Y, Sugawara K, Ohori S, Fujita A, Matsumoto N, Ueda M, Nakamura K. Heterozygous c.175C>T variant in PURA gene causes severe developmental delay. Clin Case Rep. 2023;11(9):e7779. doi: 10.1002/ccr3.7779.
• Ohori S, Miyauchi A, Osaka H, Lourenco CM, Arakaki N, Sengoku T, Ogata K, Honjo RS, Kim CA, Mitsuhashi S, Frith MC, Seyama R, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Saito K, Fujita A, Matsumoto N. Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy. Life Sci Alliance. 2023;6(8). doi: 10.26508/lsa.202302025.
• Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A. Brain Dev. 2023;45(9):505-11. doi: 10.1016/j.braindev.2023.06.009.
• Okumura G, Nakamura K, Seyama R, Uchiyama Y, Shinagawa J, Nishio S, Ikeda J, Takayama S, Kodaira M, Kosho T, Takumi Y, Matsumoto N, Sekijima Y. Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant. Intern Med. 2023. doi: 10.2169/internalmedicine.1935-23.
• Otsuji S, Nishio Y, Tsujita M, Rio M, Huber C, Antón-Plágaro C, Mizuno S, Kawano Y, Miyatake S, Simon M, van Binsbergen E, van Jaarsveld RH, Matsumoto N, Cormier-Daire V, P JC, Saitoh S, Kato K. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. J Med Genet. 2023;60(4):359-67. doi: 10.1136/jmg-2022-108602.
• Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O’Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023;25(1):90-102. doi: 10.1016/j.gim.2022.09.010.
• Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N. A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. J Hum Genet. 2023;68(4):247-53. doi: 10.1038/s10038-022-01098-x.
• Seyama R, Nishikawa M, Uchiyama Y, Hamada K, Yamamoto Y, Takeda M, Ochi T, Kishi M, Suzuki T, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Yao T, Ito H, Itakura A, Ogata K, Nagata KI, Matsumoto N. A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association. Sci Rep. 2023;13(1):9789. doi: 10.1038/s41598-023-36381-0.
• Seyama R, Uchiyama Y, Kaneshi Y, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okamoto N, Matsumoto N. Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism. J Hum Genet. 2023. doi: 10.1038/s10038-022-01117-x.
• Shigeyasu C, Yamada M, Miyata Y, Uchiyama Y, Matsumoto N, Kusumi Y, Shiraishi A. Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome. Cornea. 2023. doi: 10.1097/ico.0000000000003281.
• Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I. Case series: Downbeat nystagmus in SCA27B. J Neurol Sci. 2023;454:120849. doi: 10.1016/j.jns.2023.120849.
• Sugeno N, Hasegawa T, Haginoya K, Kubota T, Ikeda K, Nakamura T, Ishiyama S, Sato K, Yoshida S, Koshimizu E, Uematsu M, Miyatake S, Matsumoto N, Aoki M. Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia. Mol Syndromol. 2023;14(6):461-8. doi: 10.1159/000530625.
• van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genet Med. 2023;25(1):49-62. doi: 10.1016/j.gim.2022.09.006.
• Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D, Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023;110(8):1356-76. doi: 10.1016/j.ajhg.2023.06.008.
• Watanabe S, Lei M, Nakagawa E, Takeshita E, Inamori KI, Shishido F, Sasaki M, Mitsuhashi S, Matsumoto N, Kimura Y, Iwasaki M, Takahashi Y, Mizusawa H, Migita O, Ohno I, Inokuchi JI. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants. Brain Dev. 2023;45(5):270-7. doi: 10.1016/j.braindev.2023.01.002.
• Yamaguchi H, Kobayashi D, Nakamura G, Aida R, Horii Y, Okamoto T, Murakami S, Kondo D, Tsuchida N, Uchiyama Y, Maeda A, Kirino Y, Matsumoto N, Kurosawa Y, Hasegawa E, Wakamatsu A, Narita I. Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome. Mod Rheumatol Case Rep. 2023;7(1):327-33. doi: 10.1093/mrcr/rxac082.
• Yamamoto K, Baba S, Saito T, Nakagawa E, Sugai K, Iwasaki M, Fujita A, Fukuda H, Mizuguchi T, Kato M, Matsumoto N, Sasaki M. Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathies. Epilepsia Open. 2023. doi: 10.1002/epi4.12705.
• Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L. Association of biallelic RFC1 expansion with early-onset Parkinson’s disease. Eur J Neurol. 2023;30(5):1256-61. doi: 10.1111/ene.15717.
• Yoshioka Y, Taniguchi JB, Homma H, Tamura T, Fujita K, Inotsume M, Tagawa K, Misawa K, Matsumoto N, Nakagawa M, Inoue H, Tanaka H, Okazawa H. AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells. Commun Med (Lond). 2023;3(1):170. doi: 10.1038/s43856-023-00400-y.

2022

• Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A, UoWCfMG, Consortium GER. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genet Med. 2022;24(6):1261-73. doi: 10.1016/j.gim.2022.02.013.
• Arai Y, Okanishi T, Kanai S, Okazaki T, Koshimizu E, Miyatake S, Maeoka Y, Fujimoto A, Matsumoto N, Maegaki Y. A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing. Brain Dev. 2022;44(10):732-6. doi: 10.1016/j.braindev.2022.07.005.
• Duong NT, Anh LTL, Sau NH, Anh NB, Miyake N, Van Hai N, Matsumoto N. A rare homozygous missense mutation of COL7A1 in a Vietnamese family. Hum Genome Var. 2022;9(1):13. doi: 10.1038/s41439-022-00192-y.
• Duong NT, Anh LTL, Sau NH, Anh NB, Miyake N, Van Hai N, Matsumoto N. Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family. Hum Genome Var. 2022;9(1):22. doi: 10.1038/s41439-022-00201-0.
• Duong NT, Anh NP, Bac ND, Quang LB, Miyake N, Van Hai N, Matsumoto N. Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome. Hum Genome Var. 2022;9(1):21. doi: 10.1038/s41439-022-00200-1.
• Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel. Aging (Albany N Y). 2022;14(13):5299-310. doi: 10.18632/aging.204139.
• Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B. Polymicrogyria in a child with KCNMA1-related channelopathy. Brain Dev. 2022;44(2):173-7.
• Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno G, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nat Commun. 2022;13(1):6664. doi: 10.1038/s41467-022-34349-8.
• Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, Masuelli L, Conti V, Novarino G, Fassio A, Study D, Network UD, collaborators AVA. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022;145(8):2687-703. doi: 10.1093/brain/awac145.
• Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch’ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. Genome Med. 2022;14(1):40. doi: 10.1186/s13073-022-01042-w.
• Ikeuchi Y, Kitayama J, Sahara N, Okata T, Miyake N, Matsumoto N, Kitazono T, Ago T. Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease-like Vascular Formation Associated With. Neurol Genet. 2022;8(5):e200017. doi: 10.1212/nxg.0000000000200017.
• Itagane M, Teruya H, Kato T, Tsuchida N, Maeda A, Kirino Y, Uchiyama Y, Matsumoto N, Kinjo M. Clinical images: VEXAS syndrome presenting as treatment-refractory polyarteritis nodosa. Arthritis Rheumatol. 2022;74(11):1863-4. doi: 10.1002/art.42257.
• Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Clin Genet. 2022;102(1):3-11. doi: 10.1111/cge.14133.
• Jung NY, Lee HJ, Mizuguchi T, Matsumoto N. Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease. J Clin Neurol. 2022;18(3):358-60. doi: 10.3988/jcn.2022.18.3.358.
• Kameyama S, Mizuguchi T, Doi H, Koyano S, Okubo M, Tada M, Shimizu H, Fukuda H, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Misawa K, Miyatake S, Kanai K, Tanaka F, Matsumoto N. Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype. Genomics. 2022;114(5):110469. doi: 10.1016/j.ygeno.2022.110469.
• Kimura H, Nakatochi M, Aleksic B, Guevara J, Toyama M, Hayashi Y, Kato H, Kushima I, Morikawa M, Ishizuka K, Okada T, Tsurusaki Y, Fujita A, Miyake N, Ogi T, Takata A, Matsumoto N, Buxbaum J, Ozaki N, Sebat J. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Transl Psychiatry. 2022;12(1):265. doi: 10.1038/s41398-022-02033-6.
• Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy. Epileptic Disord. 2022;24(4):726-8. doi: 10.1684/epd.2022.1441.
• Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. The ATRX splicing variant c.21-1G>A is asymptomatic. Hum Genome Var. 2022;9(1):33. doi: 10.1038/s41439-022-00212-x.
• Konno D, Sugino S, Shibata TF, Misawa K, Imamura-Kawasawa Y, Suzuki J, Kido K, Nagasaki M, Yamauchi M. Antiemetic effects of baclofen in a shrew model of postoperative nausea and vomiting: Whole-transcriptome analysis in the nucleus of the solitary tract. CNS Neurosci Ther. 2022;28(6):922-31. doi: 10.1111/cns.13823.
• Liu YH, Chou YT, Chang FP, Lee WJ, Guo YC, Chou CT, Huang HC, Mizuguchi T, Chou CC, Yu HY, Yu KW, Wu HM, Tsai PC, Matsumoto N, Lee YC, Liao YC. Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy. Brain. 2022;145(9):3010-21. doi: 10.1093/brain/awac135.
• Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022;109(9):1713-23. doi: 10.1016/j.ajhg.2022.07.006.
• Masuda T, Osaka H, Tsuchida N, Miyatake S, Nishimura K, Takenouchi T, Takahashi T, Matsumoto N, Yamagata T. Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication. Epilepsy Behav Rep. 2022;19:100547. doi: 10.1016/j.ebr.2022.100547.
• Matsubara A, Tsuchida N, Sakurai M, Maeda A, Uchiyama Y, Sasaki K, Haji Y, Kirino Y, Matsumoto N, Morita A. A case of VEXAS syndrome with Sweet’s disease and pulmonary involvement. J Dermatol. 2022;49(5):e177-e8. doi: 10.1111/1346-8138.16311.
• Matsumoto H, Asano T, Tsuchida N, Maeda A, Yoshida S, Yokose K, Fujita Y, Temmoku J, Matsuoka N, Yashiro-Furuya M, Sato S, Irie K, Norikawa N, Yamamoto T, Endo M, Fukuchi K, Ohkawara H, Ikezoe T, Uchiyama Y, Kirino Y, Matsumoto N, Watanabe H, Migita K. Behçet’s disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol. 2022;238:108996. doi: 10.1016/j.clim.2022.108996.
• Matsumoto H, Fujita Y, Fukatsu M, Ikezoe T, Yokose K, Asano T, Tsuchida N, Maeda A, Yoshida S, Hashimoto H, Temmoku J, Matsuoka N, Yashiro-Furuya M, Sato S, Murakami M, Sato H, Sakuma C, Kawashima K, Shakespear N, Uchiyama Y, Watanabe H, Kirino Y, Matsumoto N, Migita K. Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome. Front Immunol. 2022;13:897722. doi: 10.3389/fimmu.2022.897722.
• Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in. J Med Genet. 2022;59(9):865-77. doi: 10.1136/jmedgenet-2020-107623.
• Misawa K. Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics. Adv Genet (Hoboken). 2022;3(3):2100066. doi: 10.1002/ggn2.202100066.
• Miyatake S, Koshimizu E, Fujita A, Doi H, Okubo M, Wada T, Hamanaka K, Ueda N, Kishida H, Minase G, Matsuno A, Kodaira M, Ogata K, Kato R, Sugiyama A, Sasaki A, Miyama T, Satoh M, Uchiyama Y, Tsuchida N, Hamanoue H, Misawa K, Hayasaka K, Sekijima Y, Adachi H, Yoshida K, Tanaka F, Mizuguchi T, Matsumoto N. Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing. NPJ Genom Med. 2022;7(1):62. doi: 10.1038/s41525-022-00331-y.
• Miyatake S, Matsumoto N. [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]. Brain Nerve. 2022;74(11):1247-56. doi: 10.11477/mf.1416202223.
• Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain. 2022;145(3):1139-50. doi: 10.1093/brain/awab363.
• Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y. Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion. Hum Genome Var. 2022;9(1):14. doi: 10.1038/s41439-022-00194-w.
• Otani N, Ouchi M, Misawa K, Hisatome I, Anzai N. Hypouricemia and Urate Transporters. Biomedicines. 2022;10(3). doi: 10.3390/biomedicines10030652.
• Saida K, Chong PF, Yamaguchi A, Saito N, Ikehara H, Koshimizu E, Miyata R, Ishiko A, Nakamura K, Ohnishi H, Fujioka K, Sakakibara T, Asada H, Ogawa K, Kudo K, Ohashi E, Kawai M, Abe Y, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Miyake N, Kato M, Kira R, Matsumoto N. Monogenic causes of pigmentary mosaicism. Hum Genet. 2022;141(11):1771-84. doi: 10.1007/s00439-022-02437-w.
• Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. Genet Med. 2022;24(12):2453-63. doi: 10.1016/j.gim.2022.08.007.
• Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome. Genomics. 2022;114(5):110468. doi: 10.1016/j.ygeno.2022.110468.
• Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N. Distal 2q duplication in a patient with intellectual disability. Hum Genome Var. 2022;9(1):39. doi: 10.1038/s41439-022-00215-8.
• Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. J Hum Genet. 2022;67(9):505-13.
• Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J Med Genet. 2022;59(5):511-6. doi: 10.1136/jmedgenet-2020-107462.
• Tsujikawa K, Hamanaka K, Riku Y, Hattori Y, Hara N, Iguchi Y, Ishigaki S, Hashizume A, Miyatake S, Mitsuhashi S, Miyazaki Y, Kataoka M, Jiayi L, Yasui K, Kuru S, Koike H, Kobayashi K, Sahara N, Ozaki N, Yoshida M, Kakita A, Saito Y, Iwasaki Y, Miyashita A, Iwatsubo T, Ikeuchi T, Miyata T, Sobue G, Matsumoto N, Sahashi K, Katsuno M, JAsDNI, Consortium JLBSiP, CBD. Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology. Sci Adv. 2022;8(21):eabm5029. doi: 10.1126/sciadv.abm5029.
• Uchino K, Kanasugi J, Enomoto M, Kitamura F, Tsuchida N, Uchiyama Y, Maeda A, Kirino Y, Matsumoto N, Takami A. VEXAS syndrome. Int J Hematol. 2022;116(4):463-4. doi: 10.1007/s12185-022-03448-z.
• Vrkic Boban I, Sekiguchi F, Lozic M, Miyake N, Matsumoto N, Lozic B. A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder. J Pediatr Genet. 2022;11(2):135-8. doi: 10.1055/s-0040-1715639.
• Yoshida S, Amamoto M, Takahashi T, Tomita I, Yuge K, Hara M, Iwama K, Matsumoto N, Matsuishi T. Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the. Clin Case Rep. 2022;10(5):e05811. doi: 10.1002/ccr3.5811.
• Matsumoto N. Obituary Norio Niikawa, M.D., Ph.D., 1942–2022. J Hum Genet. 2022;67(8):447-8. doi: 10.1038/s10038-022-01052-x.

2021

• 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.
• 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.
• 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.
• 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. 2021;66(5):499-507. doi: 10.1038/s10038-020-00869-8.
• 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. Nat Commun. 2021;12(1):2107. doi: 10.1038/s41467-021-22389-5.
• 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.
• Asakura Y, Osaka H, Aoi H, Mizuguchi T, Matsumoto N, Yamagata T. Intellectual disability and microcephaly associated with a novel CHAMP1 mutation. Hum Genome Var. 2021;8(1):34. doi: 10.1038/s41439-021-00165-7.
• 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, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E, Matsumoto N, Inazawa J, Walkiewicz M, Õunap 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, Cimbalistienė L, Coon H, Délot EC, Démurger F, Denommé-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, Kučinskas 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, Preikšaitienė 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.
• 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-López 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.
• 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;23(7):1202-10. doi: 10.1038/s41436-021-01119-8.
• Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. Hum Mol Genet. 2021;30(21):1919-31. doi: 10.1093/hmg/ddab144.
• Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T. Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing. Clin Epigenetics. 2021;13(1):204. doi: 10.1186/s13148-021-01192-5.
• 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.
• 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.
• Goto H, Kimura M, Machida J, Ota A, Nakashima M, Tsuchida N, Adachi J, Aoki Y, Tatematsu T, Takahashi K, Sana M, Nakayama A, Suzuki S, Nagao T, Matsumoto N, Tokita Y. A novel LRP6 variant in a Japanese family with oligodontia. Hum Genome Var. 2021;8(1):30. doi: 10.1038/s41439-021-00162-w.
• 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.
• 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.
• Hasegawa Y, Nishi E, Mishima Y, Sakaguchi T, Sekiguchi F, Miyake N, Kojima K, Osaka H, Matsumoto N, Okamoto N. Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype. Brain Dev. 2021;43(10):1023-8. doi: 10.1016/j.braindev.2021.07.002.
• 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.
• Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse 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.
• Itai T, Miyatake S, Hatano T, Hattori N, Ohno A, Aoki Y, Itomi K, Mori H, Saitsu H, Matsumoto N. Cerebrovascular diseases in two patients with entire NSD1 deletion. Hum Genome Var. 2021;8(1):20. doi: 10.1038/s41439-021-00151-z.
• 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. 2021;58(8):505-13. doi: 10.1136/jmedgenet-2020-106896.
• Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021;185(12):3728-39. doi: 10.1002/ajmg.a.62443.
• 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;30(9):758-70. doi: 10.1093/hmg/ddab052.
• Kitayama K, Ishiguro T, Komiyama M, Morisaki T, Morisaki H, Minase G, Hamanaka K, Miyatake S, Matsumoto N, Kato M, Takahashi T, Yorifuji T. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia. BMC Med Genomics. 2021;14(1):288. doi: 10.1186/s12920-021-01139-y.
• 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;43(4):505-14. doi: 10.1016/j.braindev.2020.12.006.
• Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Valine metabolites analysis in ECHS1 deficiency. Mol Genet Metab Rep. 2021;29:100809. doi: 10.1016/j.ymgmr.2021.100809.
• 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. 2021;58(10):712-6. doi: 10.1136/jmedgenet-2020-107137.
• May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. Genet Med. 2021;23(10):1912-21. doi: 10.1038/s41436-021-01222-w.
• 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 to an in-frame deletion. Clin Genet. 2021;99(4):607-8. doi: 10.1111/cge.13909.
• 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.
• Miyake N, Kim CA, Haginoya K, Castro MAA, Honjo RS, Matsumoto N. De novo pathogenic DHX30 variants in two cases. Clin Genet. 2021;100(3):350-1. doi: 10.1111/cge.14013.
• Miyake N, Kosho T, Matsumoto N. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities. Adv Exp Med Biol. 2021;1348:235-49. doi: 10.1007/978-3-030-80614-9_10.
• 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, 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.
• 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.
• 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;144(4):1103-17. doi: 10.1093/brain/awab021.
• 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.
• 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.
• Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y. Progressive cerebral atrophies in three children with COL4A1 mutations. Brain Dev. 2021;43(10):1033-8. doi: 10.1016/j.braindev.2021.06.008.
• Nishioka M, Kazuno AA, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A, Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq AN, Hamanaka K, Tsuboi T, Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A. Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder. Nat Commun. 2021;12(1):3750. doi: 10.1038/s41467-021-23453-w.
• 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;51(12):4655-62. doi: 10.1007/s10803-021-04910-3.
• 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;66(7):697-705. doi: 10.1038/s10038-020-00893-8.
• Okazaki T, Yamada H, Matsuura K, Kasagi N, Miyake N, Matsumoto N, Adachi K, Nanba E, Maegaki Y. Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant. Hum Genome Var. 2021;8(1):26. doi: 10.1038/s41439-021-00157-7.
• 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.
• Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C, Network UD. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021;140(7):1109-20. doi: 10.1007/s00439-021-02283-2.
• 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. Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021;9:631428. doi: 10.3389/fcell.2021.631428.
• Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T, Maeda H, Kikuchi M, Yokoyama H, Sakamoto M, Iwama K, Sekiguchi F, Hamanaka K, Fujita A, Mizuguchi T, Ogata K, Miyake N, Miyatake S, Kobayashi M, Matsumoto N. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clin Genet. 2021;100(6):722-30. doi: 10.1111/cge.14066.
• 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.
• Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. Hum Mol Genet. 2021;31(1):69-81. doi: 10.1093/hmg/ddab224.
• Sakurai Y, Watanabe T, Abe Y, Nawa T, Uchida T, Aoi H, Mizuguchi T, Matsumoto N, Haginoya K. Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant. Brain Dev. 2021;43(8):863-6. doi: 10.1016/j.braindev.2021.04.011.
• Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N. COG1-congenital disorders of glycosylation: Milder presentation and review. Clin Genet. 2021;100(3):318-23. doi: 10.1111/cge.13980.
• Sasaki K, Tsujimoto S, Miyake M, Uchiyama Y, Ikeda J, Yoshitomi M, Shimosato Y, Tokumasu M, Matsuo H, Yoshida K, Ohki K, Kaburagi T, Yamato G, Hara Y, Takeuchi M, Kinoshita A, Tomizawa D, Taga T, Adachi S, Tawa A, Horibe K, Hayashi Y, Matsumoto N, Ito S, Shiba N. Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts. Br J Haematol. 2021;194(2):414-22. doi: 10.1111/bjh.17569.
• 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.
• Sawada D, Naito S, Aoyama H, Shiohama T, Ichikawa T, Imagawa E, Miyake N, Matsumoto N, Fujii K. Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate. Brain Dev. 2021;43(7):798-803. doi: 10.1016/j.braindev.2021.03.008.
• Shibuya M, Uneoka S, Onuma A, Kodama K, Endo W, Okubo Y, Inui T, Togashi N, Nakashima I, Hino-Fukuyo N, Ida H, Miyatake S, Matsumoto N, Haginoya K. A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant. Brain Dev. 2021;43(10):1029-32. doi: 10.1016/j.braindev.2021.06.007.
• Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH, McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL, UDN. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021;90(2):274-84. doi: 10.1002/ana.26147.
• 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.
• 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.
• 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.
• Ueda K, Araki A, Fujita A, Matsumoto N, Uehara T, Suzuki H, Takenouchi T, Kosaki K, Okamoto N. A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30. Hum Genome Var. 2021;8(1):24. doi: 10.1038/s41439-021-00155-9.
• 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;66(6):607-11. doi: 10.1038/s10038-020-00891-w.
• 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. 2021;66(4):371-7. doi: 10.1038/s10038-020-00831-8.
• Yamamoto K, Kuriu T, Matsumura K, Nagayasu K, Tsurusaki Y, Miyake N, Yamamori H, Yasuda Y, Fujimoto M, Fujiwara M, Baba M, Kitagawa K, Takemoto T, Gotoda-Nishimura N, Takada T, Seiriki K, Hayata-Takano A, Kasai A, Ago Y, Kida S, Takuma K, Ono F, Matsumoto N, Hashimoto R, Hashimoto H, Nakazawa T. Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia. Transl Psychiatry. 2021;11(1):548. doi: 10.1038/s41398-021-01676-1.

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.
• 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.
• 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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