Disease-related genome analyses by long-read sequencers

• Project/Area Number: 17H01539
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Yokohama City University
• Principal Investigator: Matsumoto Naomichi 横浜市立大学, 医学研究科, 教授 (80325638)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥42,120,000 (Direct Cost: ¥32,400,000、Indirect Cost: ¥9,720,000); Fiscal Year 2019: ¥12,090,000 (Direct Cost: ¥9,300,000、Indirect Cost: ¥2,790,000); Fiscal Year 2018: ¥12,090,000 (Direct Cost: ¥9,300,000、Indirect Cost: ¥2,790,000); Fiscal Year 2017: ¥17,940,000 (Direct Cost: ¥13,800,000、Indirect Cost: ¥4,140,000)
• Keywords: ロングリードシーケンス / CNV / リピート異常 / 染色体構造異常 / Chromothripsis / chromothripsis / ゲノム / 遺伝子 / 遺伝学 / 次世代シーケンス解析 / 全ゲノム解析 / SNV

Outline of Final Research Achievements

To overcome the low genetic solution rates in the short-read NGS analysis of human rare diseases, we started using long read sequencers such as PacBio Sequel I and II as well as Oxford Nanopore PromethION for whole genome sequencing in unsolved cases who received short read exome sequencing with negative results. We could obtain >20-bp CNVs by using PBSV. We also developed Tandem-Genotypes (Genome Biol 2019) for detecting abnormal repeat regions and dnarrange (medRxiv 2020) for finding genome-wide SVs.
Using these tools, we could find a homozygous 12.4-kb deletion involving CLN6 in a PME family (J Hum Genet 2019), a 4.6-kb SAMD12 intronic repeat insertion in a　BAFME family (J Hum Genet 2019), a (GGC)n repeat expansion in NOTCH2NLC in familial and sporadic NIID (Nat Genet 2019), and biallelic pathogenic repeat expansion in a　CANVAS family (J Hum Genet 2020). We could utilize the long read sequencing in solving unsolved patients by short read sequencing.

Academic Significance and Societal Importance of the Research Achievements

ショートリード次世代シーケンス（NGS）での遺伝性疾患の解析では、原因解明率が約30%程度に留まるため、新しい解析手法が期待されている。ロングリードNGSはその有力な候補である。本研究では、ロングリードNGSの新たな解析手法を開発し、その具体的な使用法と具体的な成果を論文に発表している。例えばTandem-Genotypesでロングリード全ゲノムシーケンスデータからリピート伸長を見出した神経核内封入体は、ロングリードNGSの使用法を明示し世界的にも注目され、疾患解明におけるロングリードNGS研究を推進する大きな契機となると考える。

Research Products

• [Int'l Joint Research] Central South University(中国)
• [Journal Article] Epilepsy in Christianson syndrome: Two cases of Lennox?Gastaut syndrome and a review of literature (2020)
  • Author(s): Ikeda Azusa、Yamamoto Ayako、Ichikawa Kazushi、Tsuyusaki Yu、Tsuji Megumi、Iai Mizue、Enomoto Yumi、Murakami Hiroaki、Kurosawa Kenji、Miyatake Satoko、Matsumoto Naomichi、Goto Tomohide
  • Journal Title: Epilepsy & Behavior Reports Volume: 13 Pages: 100349-100349
  • DOI: 10.1016/j.ebr.2019.100349
  • Peer Reviewed / Open Access
• [Journal Article] Delineation of musculocontractural Ehlers?Danlos Syndrome caused by dermatan sulfate epimerase deficiency (2020)
  • Author(s): Lautrup Charlotte K.、Teik Keng W.、Unzaki Ai、Mizumoto Shuji、Syx Delfien、Sin Heng H.、Nielsen Irene K.、Markholt Sara、Yamada Shuhei、Malfait Fransiska、Matsumoto Naomichi、Miyake Noriko、Kosho Tomoki
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: 8 Issue: 5
  • DOI: 10.1002/mgg3.1197
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Long-read sequencing for rare human genetic diseases (2020)
  • Author(s): Satomi Mitsuhashi, Naomichi Matsumoto
  • Journal Title: Journal of Human Genetics Volume: 65 Issue: 1 Pages: 11-19
  • DOI: 10.1038/s10038-019-0671-8
  • Peer Reviewed
• [Journal Article] 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 (2020)
  • Author(s): Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
  • Journal Title: Brain and Development Volume: 42 Issue: 2 Pages: 199-204
  • DOI: 10.1016/j.braindev.2019.10.006
  • Peer Reviewed
• [Journal Article] Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil (2020)
  • Author(s): Ohko Kentaro、Nakajima Kimiko、Nakajima Hideki、Hiraki Yoko、Kubota Kazuo、Fukao Toshiyuki、Miyatake Satoko、Matsumoto Naomichi、Sano Shigetoshi
  • Journal Title: The Journal of Dermatology Volume: 47 Issue: 3 Pages: 306-310
  • DOI: 10.1111/1346-8138.15216
  • Peer Reviewed
• [Journal Article] Two males with sick sinus syndrome in a family with 0.6?kb deletions involving major domains in MECP2 (2020)
  • Author(s): Inui Takehiko、Iwama Kazuhiro、Miyabayashi Takuya、Sato Ryo、Okubo Yukimune、Endo Wakaba、Togashi Noriko、Kakisaka Yosuke、Kikuchi Atsuo、Mizuguchi Takeshi、Kure Shigeo、Matsumoto Naomichi、Haginoya Kazuhiro
  • Journal Title: European Journal of Medical Genetics Volume: 63 Issue: 3 Pages: 103769-103769
  • DOI: 10.1016/j.ejmg.2019.103769
  • Peer Reviewed
• [Journal Article] Life-threatening muscle complications of COL4A1-related disorder (2020)
  • Author(s): Okano Satomi、Shimada Sorachi、Tanaka Ryosuke、Okayama Akie、Kajihama Aya、Suzuki Nao、Nakau Koichi、Takahashi Satoru、Matsumoto Naomichi、Saitsu Hirotomo、Tanboon Jantima、Nishino Ichizo、Azuma Hiroshi
  • Journal Title: Brain and Development Volume: 42 Issue: 1 Pages: 93-97
  • DOI: 10.1016/j.braindev.2019.09.001
  • Peer Reviewed
• [Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities (2020)
  • Author(s): Miyake Noriko et al., Matsumoto Naomichi
  • Journal Title: The American Journal of Human Genetics Volume: 106 Issue: 1 Pages: 13-25
  • DOI: 10.1016/j.ajhg.2019.11.011
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel variants of ABCC9 in Japanese children with Cant? syndrome (2020)
  • Author(s): Kubota Kazuo、Yamamoto Takahiro、Miyatake Satoko、Matsumoto Naomichi、Fukao Toshiyuki
  • Journal Title: Pediatrics International Volume: 62 Issue: 3 Pages: 410-412
  • DOI: 10.1111/ped.14098
  • Peer Reviewed
• [Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease (2019)
  • Author(s): Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
  • Journal Title: Internal Medicine Volume: 58 Issue: 18 Pages: 2715-2719
  • DOI: 10.2169/internalmedicine.2126-18
  • NAID: 130007706950
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2019-09-15
  • Peer Reviewed / Open Access
• [Journal Article] Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients (2019)
  • Author(s): Kazuo Yamada, Atsushi Watanabe, Haruo Takeshita, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto and Ken-ichi Matsumoto.
  • Journal Title: Biological and Pharmaceutical Bulletin Volume: 42 Issue: 9 Pages: 1596-1599
  • DOI: 10.1248/bpb.b19-00168
  • NAID: 130007700172
  • ISSN: 0918-6158, 1347-5215
  • Year and Date: 2019-09-01
  • Peer Reviewed / Open Access
• [Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures (2019)
  • Author(s): Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 4 Pages: 313-322
  • DOI: 10.1038/s10038-018-0559-z
  • Peer Reviewed
• [Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019)
  • Author(s): Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 4 Pages: 347-350
  • DOI: 10.1038/s10038-018-0556-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome (2019)
  • Author(s): Okuzono Sayaka、Fukai Ryoko、Noda Marie、Miyake Noriko、Lee Sooyoung、Kaku Noriyuki、Sanefuji Masafumi、Akamine Satoshi、Kanno Shunsuke、Ishizaki Yoshito、Torisu Hiroyuki、Kira Ryutaro、Matsumoto Naomichi、Sakai Yasunari、Ohga Shouichi
  • Journal Title: Brain and Development Volume: 41 Issue: 4 Pages: 378-381
  • DOI: 10.1016/j.braindev.2018.10.012
  • Peer Reviewed
• [Journal Article] A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies (2019)
  • Author(s): Nixon Kevin C.J.、Rousseau Justine、Stone Max H.、Sarikahya Mohammed、Ehresmann Sophie、Mizuno Seiji、Matsumoto Naomichi、Miyake Noriko、Baralle Diana、McKee Shane、Izumi Kosuke、Ritter Alyssa L.、Heide Solveig、H?ron Delphine、Depienne Christel、Titheradge Hannah、Kramer Jamie M.、Campeau Philippe M.
  • Journal Title: The American Journal of Human Genetics Volume: 104 Issue: 4 Pages: 596-610
  • DOI: 10.1016/j.ajhg.2019.02.001
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing (2019)
  • Author(s): Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 5 Pages: 359-368
  • DOI: 10.1038/s10038-019-0569-5
  • Peer Reviewed
• [Journal Article] The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A (2019)
  • Author(s): Kibe Tetsuya、Hasegawa Hiroshi、Ichida Kimiyoshi、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Yokochi Kenji、Yoshimura Ayumi
  • Journal Title: Neuropediatrics Volume: - Issue: 02 Pages: 126-129
  • DOI: 10.1055/s-0039-1677869
  • Peer Reviewed
• [Journal Article] A Japanese patient with RAD51 ‐associated Fanconi anemia (2019)
  • Author(s): Takenaka Satoshi、Kuroda Yukiko、Ohta Sayaka、Mizuno Yoko、Hiwatari Mitsuteru、Miyatake Satoko、Matsumoto Naomichi、Oka Akira
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 6 Pages: 900-902
  • DOI: 10.1002/ajmg.a.61130
  • Peer Reviewed
• [Journal Article] Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons (2019)
  • Author(s): Bell Scott, et al., Matsumoto Naomichi, et al., Ernst C*#, Campeau PM*# (*: co-correspondence) (#: equal contribution).
  • Journal Title: The American Journal of Human Genetics Volume: 104 Issue: 5 Pages: 815-834
  • DOI: 10.1016/j.ajhg.2019.03.022
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation (2019)
  • Author(s): Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFdS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, (以下21名省略）, Ikegawa S.
  • Journal Title: The American Journal of Human Genetics Volume: 104 Issue: 5 Pages: 925-935
  • DOI: 10.1016/j.ajhg.2019.03.004
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes (2019)
  • Author(s): Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
  • Journal Title: Annals of Neurology Volume: － Issue: 6 Pages: 927-933
  • DOI: 10.1002/ana.25481
  • Peer Reviewed
• [Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019)
  • Author(s): Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 2506-2506
  • DOI: 10.1038/s41467-019-10482-9
  • Peer Reviewed / Open Access
• [Journal Article] A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. (2019)
  • Author(s): Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C.
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 2884-2884
  • DOI: 10.1038/s41467-019-10746-4
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease (2019)
  • Author(s): Tsuchida Naomi、Kirino Yohei、Soejima Yutaro、Onodera Masafumi、Arai Katsuhiro、Tamura Eiichiro、Ishikawa Takashi、Kawai Toshinao、Uchiyama Toru、Nomura Shigeru、Kobayashi Daisuke、Taguri Masataka、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Nakajima Hideaki、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Arthritis Research & Therapy Volume: 21 Issue: 1 Pages: 137-137
  • DOI: 10.1186/s13075-019-1928-5
  • Peer Reviewed / Open Access
• [Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome (2019)
  • Author(s): Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
  • Journal Title: The American Journal of Human Genetics Volume: 104 Issue: 6 Pages: 1233-1240
  • DOI: 10.1016/j.ajhg.2019.04.014
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy (2019)
  • Author(s): Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 8 Pages: 821-827
  • DOI: 10.1038/s10038-019-0617-1
  • Peer Reviewed
• [Journal Article] Clinical and molecular spectrum of CHOPS syndrome (2019)
  • Author(s): Raible Sarah, et al., Matsumoto Naomichi et al., Izumi Kosuke
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 7 Pages: 1126-1138
  • DOI: 10.1002/ajmg.a.61174
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration (2019)
  • Author(s): Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 印刷中 Issue: 14 Pages: 2319-2329
  • DOI: 10.1093/hmg/ddz066
  • Peer Reviewed
• [Journal Article] Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome (2019)
  • Author(s): Lei Ming、Mitsuhashi Satomi、Miyake Noriko、Ohta Tohru、Liang Desheng、Wu Lingqian、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 7 Pages: 647-652
  • DOI: 10.1038/s10038-019-0596-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (2019)
  • Author(s): Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
  • Journal Title: Journal of Medical Genetics Volume: - Issue: 6 Pages: 396-407
  • DOI: 10.1136/jmedgenet-2018-105775
  • Peer Reviewed / Open Access
• [Journal Article] Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews (2019)
  • Author(s): Weisz-Hubshman M.、Meirson H.、Michaelson-Cohen R.、Beeri R.、Tzur S.、Bormans C.、Modai S.、Shomron N.、Shilon Y.、Banne E.、Orenstein N.、Konen O.、Marek-Yagel D.、Veber A.、Shalva N.、Imagawa E.、Matsumoto N.、Lev D.、Lerman Sagie T.、Raas-Rothschild A.、Ben-Zeev B.、Basel-Salmon L.、Behar D.M.、Heimer G.
  • Journal Title: European Journal of Paediatric Neurology Volume: 23 Issue: 3 Pages: 418-426
  • DOI: 10.1016/j.ejpn.2019.02.003
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy (2019)
  • Author(s): Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsuzono, Hirotomo Saitsu, Atsuo Nakayama
  • Journal Title: Molecular Genetics and Genomic Medicine Volume: 7 Issue: 7
  • DOI: 10.1002/mgg3.698
  • Peer Reviewed / Open Access
• [Journal Article] Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation. (2019)
  • Author(s): Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S,Matsumoto N, Fujii Y.
  • Journal Title: World Neurosurg. Volume: 印刷中 Pages: 446-450
  • DOI: 10.1016/j.wneu.2019.04.156
  • Peer Reviewed
• [Journal Article] Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease (2019)
  • Author(s): Sone Jun、Mitsuhashi Satomi et al.
  • Journal Title: Nature Genetics Volume: 51 Issue: 8 Pages: 1215-1221
  • DOI: 10.1038/s41588-019-0459-y
  • Peer Reviewed / Open Access
• [Journal Article] De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder (2019)
  • Author(s): Snijders Blok Lot., et al., Matsumoto Naomichintonio, et al., Fisher Simon E.
  • Journal Title: The American Journal of Human Genetics Volume: 105 Issue: 2 Pages: 403-412
  • DOI: 10.1016/j.ajhg.2019.06.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 (2019)
  • Author(s): Saida Ken、Kim Chong Ae、Ceroni Jos? Ricardo Magliocco、Bertola Debora Romeo、Honjo Rachel Sayuri、Mitsuhashi Satomi、Takata Atsushi、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 885-890
  • DOI: 10.1038/s10038-019-0626-0
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases (2019)
  • Author(s): Murakami Yoshiko, et al., Matsumoto Naomichi, et al., Campeau Philippe M.
  • Journal Title: The American Journal of Human Genetics Volume: 105 Issue: 2 Pages: 384-394
  • DOI: 10.1016/j.ajhg.2019.05.019
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant (2019)
  • Author(s): Uchiyama Yuri、Kim Chong A、Pastorino Antonio Carlos、Ceroni Jos?、Lima Patricia Picciarelli、de Barros Dorna Mayra、Honjo Rachel Sayuri、Bertola D?bora、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 955-960
  • DOI: 10.1038/s10038-019-0631-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019)
  • Author(s): Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Neurology Volume: 93 Issue: 3
  • DOI: 10.1212/wnl.0000000000007774
  • Peer Reviewed
• [Journal Article] Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation (2019)
  • Author(s): Ishikawa Nobutsune、Tateishi Yuichi、Tani Hiroo、Kobayashi Yoshiyuki、Itai Toshiyuki、Miyatake Satoko、Kato Mitsuhiro、Matsumoto Naomichi、Kobayashi Masao
  • Journal Title: Seizure Volume: 71 Pages: 20-23
  • DOI: 10.1016/j.seizure.2019.05.024
  • Peer Reviewed
• [Journal Article] Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease (2019)
  • Author(s): Nakamura Yuji、Kato Kohji、Tsuchida Naomi、Matsumoto Naomichi、Takahashi Yoshiyuki、Saitoh Shinji
  • Journal Title: PLOS ONE Volume: 14 Issue: 8 Pages: e0221482-e0221482
  • DOI: 10.1371/journal.pone.0221482
  • Peer Reviewed / Open Access
• [Journal Article] Somatic mutation: The hidden genetics of brain malformations and focal epilepsies (2019)
  • Author(s): Ye Zimeng、McQuillan Lara、Poduri Annapurna、Green Timothy E.、Matsumoto Naomichi、Mefford Heather C.、Scheffer Ingrid E.、Berkovic Samuel F.、Hildebrand Michael S.
  • Journal Title: Epilepsy Research Volume: 155 Pages: 106161-106161
  • DOI: 10.1016/j.eplepsyres.2019.106161
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome (2019)
  • Author(s): Oda Yoichiro、Uchiyama Yuri、Motomura Ai、Fujita Atsushi、Azuma Yoshiteru、Harita Yutaka、Mizuguchi Takeshi、Yanagi Kumiko、Ogata Hiroko、Hata Kenichiro、Kaname Tadashi、Matsubara Yoichi、Wakui Keiko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 10 Pages: 1005-1014
  • DOI: 10.1038/s10038-019-0641-1
  • Peer Reviewed
• [Journal Article] Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019)
  • Author(s): Aoi Hiromi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 10 Pages: 967-978
  • DOI: 10.1038/s10038-019-0643-z
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing (2019)
  • Author(s): Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 11 Pages: 1107-1116
  • DOI: 10.1038/s10038-019-0654-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders" (2019)
  • Author(s): Nakashima M, Ogata K, Saitsu H, Matsumoto N
  • Journal Title: Annals of Neurology Volume: 86 Issue: 5 Pages: 805-806
  • DOI: 10.1002/ana.25599
  • Peer Reviewed
• [Journal Article] A genome-wide DNA methylation signature for SETD1B-related syndrome (2019)
  • Author(s): Krzyzewska I. M. et al., Matsumoto N, et al., Alders M*,#, Mannens MMAM# (#: equal contribution).
  • Journal Title: Clinical Epigenetics Volume: 11 Issue: 1
  • DOI: 10.1186/s13148-019-0749-3
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report (2019)
  • Author(s): Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
  • Journal Title: BMC Neurology Volume: 19 Issue: 1 Pages: 253-253
  • DOI: 10.1186/s12883-019-1489-x
  • Peer Reviewed / Open Access
• [Journal Article] Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment (2019)
  • Author(s): Fiordaliso Sarah K.、.....Shirahige Katsuhiko、Izumi Kosuke
  • Journal Title: The American Journal of Human Genetics Volume: 105 Issue: 5 Pages: 987-995
  • DOI: 10.1016/j.ajhg.2019.09.009
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients (2019)
  • Author(s): Sekiguchi Futoshi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 12 Pages: 1173-1186
  • DOI: 10.1038/s10038-019-0667-4
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy (2019)
  • Author(s): Okubo Masaki、Doi Hiroshi、et al.
  • Journal Title: Annals of Neurology Volume: 86 Issue: 6 Pages: 962-968
  • DOI: 10.1002/ana.25586
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing (2019)
  • Author(s): Hirasawa-Inoue Ayaka、Ishiyama Akihiko、Takeshita Eri、Shimizu-Motohashi Yuko、Saito Takashi、Komaki Hirofumi、Nakagawa Eiji、Yuasa Shota、Saitsu Hirotomo、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Sasaki Masayuki
  • Journal Title: Brain and Development Volume: 41 Issue: 10 Pages: 905-909
  • DOI: 10.1016/j.braindev.2019.06.006
  • Peer Reviewed
• [Journal Article] Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42 (2019)
  • Author(s): Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, （32名略） Ishikawa T, Tanaka F
  • Journal Title: Neurobiology of Disease Volume: 130 Pages: 104516-104516
  • DOI: 10.1016/j.nbd.2019.104516
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019)
  • Author(s): Peter Virginie G, et al., Matsumoto Naomichi, et al., Campos-Xavier Belinda
  • Journal Title: Genetics in Medicine Volume: 21 Issue: 12 Pages: 2734-2743
  • DOI: 10.1038/s41436-019-0595-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy (2019)
  • Author(s): Oguni Hirokazu、Nishikawa Aiko、Sato Yu、Otani Yui、Ito Susumu、Nagata Satoru、Kato Mitsuhiro、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Epilepsy Research Volume: 155 Pages: 106149-106149
  • DOI: 10.1016/j.eplepsyres.2019.06.001
  • Peer Reviewed
• [Journal Article] Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome (2019)
  • Author(s): Nakamura Haruko、Komiya Hiroyasu、Uematsu Eri、Nakae Yoshiharu、Tanaka Kenichi、Kunii Misako、Tada Mikiko、Joki Hideto、Koyano Shigeru、Matsumoto Naomichi、Doi Hiroshi、Takeuchi Hideyuki、Tanaka Fumiaki
  • Journal Title: Neurology: Clinical Practice Volume: 9 Issue: 5
  • DOI: 10.1212/cpj.0000000000000599
  • Peer Reviewed / Open Access
• [Journal Article] West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother (2019)
  • Author(s): Chong Pin Fee、Matsukura Masaru、Fukui Kaoru、Watanabe Yoriko、Matsumoto Naomichi、Kira Ryutaro
  • Journal Title: Frontiers in Pediatrics Volume: 7
  • DOI: 10.3389/fped.2019.00531
  • Peer Reviewed / Open Access
• [Journal Article] DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer. (2019)
  • Author(s): 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.
  • Journal Title: FASEB J. Volume: 34 Issue: 1 Pages: 960-973
  • DOI: 10.1096/fj.201901757r
  • Peer Reviewed / Open Access
• [Journal Article] Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis (2019)
  • Author(s): Izumi Yuichiro, Hamaguchi Ami, Miura Rei, Nakagawa Terumasa, Nakagawa Miyuki, Saida Ken, Miyake Noriko, Nagayoshi Yu, Kakizoe Yutaka, Miyoshi Taku, Kohda Yukimasa, Misumi Yohei, Matsumoto Naomichi, Ando Yukio, Mukoyama Masashi.
  • Journal Title: CEN Case Reports Volume: 9 Issue: 1 Pages: 59-64
  • DOI: 10.1007/s13730-019-00429-w
  • Peer Reviewed / Open Access
• [Journal Article] Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation (2019)
  • Author(s): Okamoto Nobuhiko、Arai Hiroshi、Onishi Toshikazu、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Congenital Anomalies Volume: 印刷中 Issue: 1 Pages: 40-41
  • DOI: 10.1111/cga.12330
  • NAID: 210000012756
  • Peer Reviewed
• [Journal Article] The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype (2019)
  • Author(s): Yigit Gokhan、Saida Ken、DeMarzo Danielle、Miyake Noriko、Fujita Atsushi、Yang Tan Tiong、White Susan M.、Wadley Alexandrea、Toliat Mohammad R.、Motameny Susanne、Franitza Marek、Stutterd Chloe A.、Chong Pin F.、Kira Ryutaro、et al.
  • Journal Title: Human Mutation Volume: 41 Issue: 3 Pages: 591-599
  • DOI: 10.1002/humu.23964
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images ? A first case of CLCN2-related leukoencephalopathy in Japan (2019)
  • Author(s): Hoshi Miyuki、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Imamura Atsushi
  • Journal Title: Brain and Development Volume: 41 Issue: 1 Pages: 101-105
  • DOI: 10.1016/j.braindev.2018.07.011
  • Peer Reviewed
• [Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS) (2019)
  • Author(s): Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
  • Journal Title: Seizure Volume: 65 Pages: 118-123
  • DOI: 10.1016/j.seizure.2019.01.009
  • Peer Reviewed
• [Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads (2019)
  • Author(s): Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
  • Journal Title: Genome Biology Volume: 20 Issue: 1 Pages: 58-58
  • DOI: 10.1186/s13059-019-1667-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (2018)
  • Author(s): Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N and others
  • Journal Title: Genetics in Medicine Volume: 21 Issue: 4 Pages: 850-860
  • DOI: 10.1038/s41436-018-0259-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
  • Journal Title: Genetics in Medicine Volume: - Issue: 7 Pages: 1629-1638
  • DOI: 10.1038/s41436-018-0360-6
  • Peer Reviewed
• [Journal Article] Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood (2018)
  • Author(s): Vogtle FN, Brandl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kucukkose C, Muhle H, Jahn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Muller FJ, Helbig I.
  • Journal Title: The American Journal of Human Genetics Volume: 102 Issue: 4 Pages: 557-573
  • DOI: 10.1016/j.ajhg.2018.02.014
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report (2018)
  • Author(s): Hyun Hye Sun、Kim Seong Heon、Park Eujin、Cho Myung Hyun、Kang Hee Gyung、Lee Hyun Soon、Miyake Noriko、Matsumoto Naomichi、Tsukaguchi Hiroyasu、Cheong Hae Il
  • Journal Title: BMC Medical Genetics Volume: 19 Issue: 1 Pages: 131-131
  • DOI: 10.1186/s12881-018-0649-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies (2018)
  • Author(s): Saikusa Tomoko、Hara Munetsugu、Iwama Kazuhiro、Yuge Kotaro、Ohba Chihiro、Okada Jun-ichiro、Hisano Tadashi、Yamashita Yushiro、Okamoto Nobuhiko、Saitsu Hirotomo、Matsumoto Naomichi、Matsuishi Toyojiro
  • Journal Title: Brain and Development Volume: 40 Issue: 5 Pages: 406-409
  • DOI: 10.1016/j.braindev.2017.12.013
  • Peer Reviewed / Open Access
• [Journal Article] A homozygous NOP14 variant is likely to cause recurrent pregnancy loss (2018)
  • Author(s): Suzuki Toshifumi、Behnam Mahdiyeh、Ronasian Firooze、Salehi Mansoor、Shiina Masaaki、Koshimizu Eriko、Fujita Atsushi、Sekiguchi Futoshi、Miyatake Satoko、Mizuguchi Takeshi、Nakashima Mitsuko、Ogata Kazuhiro、Takeda Satoru、Matsumoto Naomichi、Miyake Noriko
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 4 Pages: 425-430
  • DOI: 10.1038/s10038-018-0410-6
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders (2018)
  • Author(s): Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
  • Journal Title: Human Molecular Genetics Volume: 27 Issue: 8 Pages: 1421-1433
  • DOI: 10.1093/hmg/ddy052
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. (2018)
  • Author(s): Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N#, Matsumoto N# (#: co-correspondence).
  • Journal Title: J Hum Genet. Volume: 63(4) Issue: 4 Pages: 487-491
  • DOI: 10.1038/s10038-017-0404-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations (2018)
  • Author(s): Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 4 Pages: 417-423
  • DOI: 10.1038/s10038-017-0408-5
  • Peer Reviewed / Open Access
• [Journal Article] Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. (2018)
  • Author(s): Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N#.
  • Journal Title: J Hum Genet. Volume: 63(4) Issue: 4 Pages: 529-532
  • DOI: 10.1038/s10038-017-0399-2
  • Peer Reviewed
• [Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy (2018)
  • Author(s): Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Annals of Neurology Volume: 83 Issue: 4 Pages: 794-806
  • DOI: 10.1002/ana.25208
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The second point mutation in PREPL: a case report and literature review. (2018)
  • Author(s): Silva S, Miyake N, Tapia C, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 63(5) Issue: 5 Pages: 677-681
  • DOI: 10.1038/s10038-018-0426-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia (2018)
  • Author(s): Fukuda Hiroyuki、Imagawa Eri、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Kramer Uri、Matsumoto Naomichi、Fattal-Valevski Aviva
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 5 Pages: 673-676
  • DOI: 10.1038/s10038-018-0421-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy (2018)
  • Author(s): Fassio Anna、Esposito Alessandro、Kato Mitsuhiro、Saitsu Hirotomo、et al.
  • Journal Title: Brain Volume: 141 Issue: 6 Pages: 1703-1718
  • DOI: 10.1093/brain/awy092
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening. (2018)
  • Author(s): Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.
  • Journal Title: Mol Genet Metab. Volume: S1096-7192(18) Issue: 1 Pages: 30154-9
  • DOI: 10.1016/j.ymgme.2018.03.007
  • Peer Reviewed
• [Journal Article] Dysosteosclerosis is also caused by TNFRSF11A mutation. (2018)
  • Author(s): Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S#.
  • Journal Title: J Hum Genet. Volume: 63(6) Issue: 6 Pages: 769-774
  • DOI: 10.1038/s10038-018-0447-6
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. (2018)
  • Author(s): Suzuki-Muromoto S# (#: correspondence), Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K.
  • Journal Title: J Hum Genet. Volume: 63(6) Issue: 6 Pages: 749-753
  • DOI: 10.1038/s10038-018-0432-0
  • Peer Reviewed
• [Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl (2018)
  • Author(s): Yuge K, Iwama K, Yonee C,--Matsuishi T
  • Journal Title: Brain Dev Volume: 40 Issue: 6 Pages: 493-497
  • DOI: 10.1016/j.braindev.2018.02.002
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. (2018)
  • Author(s): Miyata Y# (#: corresponding), Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.
  • Journal Title: Brain Dev. Volume: 40(7) Issue: 7 Pages: 566-569
  • DOI: 10.1016/j.braindev.2018.03.012
  • Peer Reviewed
• [Journal Article] A novel 8-bp duplication in ADAT3 causes mild intellectual disability. (2018)
  • Author(s): Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M# (#: corresponding).
  • Journal Title: Hum Genome Var. Volume: 21 Issue: 1 Pages: 5-7
  • DOI: 10.1038/s41439-018-0007-9
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (2018)
  • Author(s): Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Human Mutation Volume: 39 Issue: 8 Pages: 1070-1075
  • DOI: 10.1002/humu.23550
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A recurrent homozygous NHLRC1 variant in siblings with Lafora disease (2018)
  • Author(s): Araya Nami、Takahashi Yukitoshi、Shimono Masayuki、Fukuda Tomofumi、Kato Mitsuhiro、Nakashima Mitsuko、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Human Genome Variation Volume: 5 Issue: 1 Pages: 6-9
  • DOI: 10.1038/s41439-018-0015-9
  • Peer Reviewed / Open Access
• [Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders ? leukodystrophy and autism (2018)
  • Author(s): Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Ueda Yuki、Imai Katsumi、Takahashi Yukitoshi、Imagawa Eri、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Human Genome Variation Volume: 5 Issue: 1 Pages: 18-18
  • DOI: 10.1038/s41439-018-0020-z
  • Peer Reviewed / Open Access
• [Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies (2018)
  • Author(s): Yahikozawa Hiroyuki、Miyatake Satoko、Sakai Toshiaki、Uehara Takeshi、Yamada Mitsunori、Hanyu Norinao、Futatsugi Yasuhiro、Doi Hiroshi、Koyano Shigeru、Tanaka Fumiaki、Suzuki Atsushi、Matsumoto Naomichi、Yoshida Kunihiro
  • Journal Title: The Cerebellum Volume: 印刷中 Issue: 5 Pages: 525-530
  • DOI: 10.1007/s12311-018-0941-6
  • Peer Reviewed
• [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder (2018)
  • Author(s): Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
  • Journal Title: Cell Reports Volume: 22(3) Issue: 3 Pages: 734-747
  • DOI: 10.1016/j.celrep.2017.12.074
  • Peer Reviewed / Open Access
• [Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales (2018)
  • Author(s): Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 2 Pages: 274-275
  • DOI: 10.1111/cge.13369
  • Peer Reviewed
• [Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel (2018)
  • Author(s): Kunii M.、Doi H.、Ishii Y.、Ohba C.、Tanaka K.、Tada M.、Fukai R.、Hashiguchi S.、Kishida H.、Ueda N.、Kudo Y.、Kugimoto C.、Nakano T.、Udaka N.、Miyatake S.、Miyake N.、Saitsu H.、Ito Y.、Takahashi K.、Nakamura H.、Tomita-Katsumoto A.、Takeuchi H.、Koyano S.、Matsumoto N.、Tanaka F.
  • Journal Title: Clinical Genetics Volume: - Issue: 2 Pages: 232-238
  • DOI: 10.1111/cge.13371
  • Peer Reviewed
• [Journal Article] A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. (2018)
  • Author(s): Sato T*, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
  • Journal Title: Brain Dev. Volume: 40(9) Issue: 9 Pages: 819-823
  • DOI: 10.1016/j.braindev.2018.05.012
  • Peer Reviewed
• [Journal Article] wo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. (2018)
  • Author(s): Takeguchi R#, Haginoya K# (# denotes equal contribution), Uchiyama Y, Fujita A, Nagura M, Takeshita E*, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.
  • Journal Title: Brain Dev. Volume: 40(8) Issue: 8 Pages: 728-732
  • DOI: 10.1016/j.braindev.2018.04.002
  • Peer Reviewed
• [Journal Article] Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. (2018)
  • Author(s): Daida A*, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M.
  • Journal Title: Epileptic Disord. Volume: 20(4) Issue: 4 Pages: 313-318
  • DOI: 10.1684/epd.2018.0981
  • Peer Reviewed
• [Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria (2018)
  • Author(s): Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Annals of Neurology Volume: 84 Issue: 1 Pages: 159-161
  • DOI: 10.1002/ana.25256
  • Peer Reviewed
• [Journal Article] Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. (2018)
  • Author(s): Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
  • Journal Title: Seizure. Volume: 60 Pages: 91-93
  • DOI: 10.1016/j.seizure.2018.06.012
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. (2018)
  • Author(s): *Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.
  • Journal Title: Clin Genet. Volume: 94(3-4) Issue: 3-4 Pages: 391-392
  • DOI: 10.1111/cge.13378
  • Peer Reviewed
• [Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum (2018)
  • Author(s): Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 3-4 Pages: 362-367
  • DOI: 10.1111/cge.13385
  • Peer Reviewed
• [Journal Article] Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency. (2018)
  • Author(s): *Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H.
  • Journal Title: Int J Hematol. Volume: 108(4) Issue: 4 Pages: 443-446
  • DOI: 10.1007/s12185-018-2462-y
  • Peer Reviewed
• [Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia (2018)
  • Author(s): Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 10 Pages: 1049-1054
  • DOI: 10.1038/s10038-018-0488-x
  • Peer Reviewed
• [Journal Article] De novo PHACTR1 mutations in West syndrome and their pathophysiological effects (2018)
  • Author(s): Hamada Nanako、Ogaya Shunsuke、Nakashima Mitsuko、Nishijo Takuma、Sugawara Yuji、Iwamoto Ikuko、Ito Hidenori、Maki Yuki、Shirai Kentaro、Baba Shimpei、Maruyama Koichi、Saitsu Hirotomo、Kato Mitsuhiro、Matsumoto Naomichi、Momiyama Toshihiko、Nagata Koh-ichi
  • Journal Title: Brain Volume: 141 Pages: 3098-3114
  • DOI: 10.1093/brain/awy246
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel SUZ12 mutations in Weaver-like syndrome (2018)
  • Author(s): Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 5 Pages: 461-466
  • DOI: 10.1111/cge.13415
  • Peer Reviewed
• [Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy (2018)
  • Author(s): Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 538-547
  • DOI: 10.1111/cge.13454
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia (2018)
  • Author(s): Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 548-553
  • DOI: 10.1111/cge.13423
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 12 Pages: 1223-1229
  • DOI: 10.1038/s10038-018-0516-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. (2018)
  • Author(s): Shiraku H#, Nakashima M#, Takeshita S# (# denotes equal contribution), Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N*, Kato M* (*: co-correspondence).
  • Journal Title: Epilepsia Open. Volume: 3(4) Issue: 4 Pages: 495-502
  • DOI: 10.1002/epi4.12272
  • Peer Reviewed / Open Access
• [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome (2018)
  • Author(s): Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
  • Journal Title: Annals of Neurology Volume: 84 Issue: 6 Pages: 814-828
  • DOI: 10.1002/ana.25370
  • Peer Reviewed
• [Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease (2018)
  • Author(s): Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
  • Journal Title: Annals of Neurology Volume: 84 Issue: 6 Pages: 843-853
  • DOI: 10.1002/ana.25367
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Phenotypic and molecular insights into PQBP1-related intellectual disability. (2018)
  • Author(s): Abdel-Salam GMH*, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.
  • Journal Title: Am J Med Genet A. Volume: 176(11) Issue: 11 Pages: 2446-2450
  • DOI: 10.1002/ajmg.a.40479
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Screening of known disease genes in congenital scoliosis. (2018)
  • Author(s): Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: - Issue: 6 Pages: 966-974
  • DOI: 10.1002/mgg3.466
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases (2018)
  • Author(s): Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 3 Pages: 191-197
  • DOI: 10.1038/s10038-018-0551-7
  • Peer Reviewed
• [Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018)
  • Author(s): Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
  • Journal Title: European Journal of Human Genetics Volume: 27 Issue: 3 Pages: 378-383
  • DOI: 10.1038/s41431-018-0289-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SOFT syndrome in a patient from Chile (2018)
  • Author(s): Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 3 Pages: 338-340
  • DOI: 10.1002/ajmg.a.61015
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism (2018)
  • Author(s): Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Human Genetics Volume: 137 Issue: 1 Pages: 95-104
  • DOI: 10.1007/s00439-017-1863-y
  • Peer Reviewed / Open Access
• [Journal Article] Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. (2018)
  • Author(s): Kohashi K, Ishiyama A*, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M.
  • Journal Title: Brain Dev Volume: 40(1) Issue: 1 Pages: 53-57
  • DOI: 10.1016/j.braindev.2017.06.005
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation (2018)
  • Author(s): Kojima K、Shirai K、Kobayashi M、Miyauchi A、Saitsu H、Matsumoto N、Osaka H、Yamagata T
  • Journal Title: Brain and Development Volume: 40 Issue: 1 Pages: 69-73
  • DOI: 10.1016/j.braindev.2017.06.004
  • Peer Reviewed
• [Journal Article] Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. (2018)
  • Author(s): Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.
  • Journal Title: Am J Hum Genet Volume: 102 Issue: 3 Pages: 480-486
  • DOI: 10.1016/j.ajhg.2018.01.019
  • NAID: 120006502505
  • Peer Reviewed / Open Access
• [Journal Article] Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities. (2018)
  • Author(s): Enya T*, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T.
  • Journal Title: Am J Med Genet A Volume: 176(3) Issue: 3 Pages: 707-711
  • DOI: 10.1002/ajmg.a.38606
  • Peer Reviewed
• [Journal Article] Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. (2018)
  • Author(s): Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N*.
  • Journal Title: J Hum Genet Volume: 63(3) Issue: 3 Pages: 263-270
  • DOI: 10.1038/s10038-017-0405-8
  • Peer Reviewed
• [Journal Article] A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. (2018)
  • Author(s): Sakaguchi T, Zigman T, Petkovic; Ramadza D, Omerza L, Puseljic; S, Eres Hrvacanin Z, Miyake N, Matsumoto N, Bariic I.
  • Journal Title: Hum Genome Var Volume: 8;5 Issue: 1 Pages: 18005-18005
  • DOI: 10.1038/hgv.2018.5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia (2017)
  • Author(s): Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
  • Journal Title: British Journal of Haematology Volume: 印刷中 Issue: 6 Pages: 843-847
  • DOI: 10.1111/bjh.14710
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation (2017)
  • Author(s): Okamoto Nobuhiko、Ehara Eiji、Tsurusaki Yoshinori、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Congenital Anomalies Volume: 58 Issue: 3 Pages: 105-107
  • DOI: 10.1111/cga.12242
  • Peer Reviewed
• [Journal Article] A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome (2017)
  • Author(s): Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
  • Journal Title: Clinical Genetics Volume: 93 Issue: 4 Pages: 929-930
  • DOI: 10.1111/cge.13105
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel mutation in SLC1A3 causes episodic ataxia (2017)
  • Author(s): Iwama Kazuhiro、Iwata Aya、Shiina Masaaki、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 2 Pages: 207-211
  • DOI: 10.1038/s10038-017-0365-z
  • Peer Reviewed
• [Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment. (2017)
  • Author(s): Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
  • Journal Title: EMBOJ Volume: 36 Issue: 9 Pages: 1227-1242
  • DOI: 10.15252/embj.201695630
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome (2017)
  • Author(s): Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
  • Journal Title: Human Mutation Volume: 印刷中 Issue: 6 Pages: 637-648
  • DOI: 10.1002/humu.23200
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement (2017)
  • Author(s): Hori Ikumi、Otomo Takanobu、Nakashima Mitsuko、Miya Fuyuki、et al.、Saitoh Shinji
  • Journal Title: Scientific Reports Volume: 7 Issue: 1 Pages: 3552-3552
  • DOI: 10.1038/s41598-017-02840-8
  • Peer Reviewed / Open Access
• [Journal Article] Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations (2017)
  • Author(s): Kino Jiro、Tsukaguchi Hiroyasu、Kimata Takahisa、Nguyen Huan Thanh、Nakano Yorika、Miyake Noriko、Matsumoto Naomichi、Kaneko Kazunari
  • Journal Title: BMC Nephrology Volume: 18 Issue: 1 Pages: 220-220
  • DOI: 10.1186/s12882-017-0632-4
  • Peer Reviewed / Open Access
• [Journal Article] Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation. (2017)
  • Author(s): Hatano T, Daida K, Hoshino Y, Li Y, Saitsu H, Matsumoto N, Hattori N.
  • Journal Title: Parkinsonism and Related Disorders Volume: 40 Pages: 80-82
  • DOI: 10.1016/j.parkreldis.2017.04.009
  • Peer Reviewed
• [Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. (2017)
  • Author(s): Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 印刷中 Issue: 8 Pages: 741-746
  • DOI: 10.1038/jhg.2017.24
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. (2017)
  • Author(s): Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 62 Issue: 11 Pages: 997-1000
  • DOI: 10.1038/jhg.2017.77
  • Peer Reviewed
• [Journal Article] A patient with Muenke syndrome manifesting migrating neonatal seizures. (2017)
  • Author(s): Okubo Y*, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K.
  • Journal Title: Brain Dev Volume: 39(10) Issue: 10 Pages: 873-876
  • DOI: 10.1016/j.braindev.2017.05.007
  • Peer Reviewed
• [Journal Article] Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. (2017)
  • Author(s): Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE.
  • Journal Title: Hum Mutat Volume: 38(11) Issue: 11 Pages: 1542-1554
  • DOI: 10.1002/humu.23303
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia (2017)
  • Author(s): *Long Guo, *Nursel H Elcioglu, *Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa (equal contribution)
  • Journal Title: Journal of Human Genetics Volume: － Issue: 8 Pages: 797-801
  • DOI: 10.1038/jhg.2017.38
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation. (2017)
  • Author(s): Okamoto N., Tsuchiya Y., Kuki I., Yamamoto T., Saitsu H., Kitagawa D. and Matsumoto N.
  • Journal Title: Molecular Genetics and Genomic Medicine Volume: 5 Issue: 5 Pages: 585-591
  • DOI: 10.1002/mgg3.303
  • Peer Reviewed
• [Journal Article] Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation (2017)
  • Author(s): Iwashita Hiromichi、Okudela Koji、Matsumura Mai、Yamanaka Shoji、Sawazumi Tomoe、Enaka Makiko、Udaka Naoko、Miyake Akio、Hibiya Takashi、Miyake Noriko、Matsumoto Naomichi、Makiyama Kazuhide、Yao Masahiro、Nagashima Yoji、Ohashi Kenichi
  • Journal Title: Pathol Int Volume: 67 Issue: 11 Pages: 585-589
  • DOI: 10.1111/pin.12587
  • Peer Reviewed / Open Access
• [Journal Article] Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy (2017)
  • Author(s): Syrbe S、Harms FL、Parrini E、Montomoli M、Mutze U、Helbig KL、Polster T、Albrecht B、Bernbeck U、van Binsbergen E、Biskup S、Burglen L、Denecke J、Heron B、Heyne H O、Hoffmann GF、Hornemann F、Matsushige T、Matsuura R、Kato M、et al.
  • Journal Title: Brain Volume: 140 Issue: 9 Pages: 2322-2336
  • DOI: 10.1093/brain/awx195
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation (2017)
  • Author(s): Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi J, Matsumoto N, Yamamoto T
  • Journal Title: Hum Genom Var Volume: 4 Issue: 1 Pages: 17051-17051
  • DOI: 10.1038/hgv.2017.51
  • Peer Reviewed / Open Access
• [Journal Article] Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum. (2017)
  • Author(s): Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S*.
  • Journal Title: Hum Genome Var Volume: 5;4 Issue: 1 Pages: 17040-17040
  • DOI: 10.1038/hgv.2017.40
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Three cases of KCNT1 mutations: malignant migrating partial seizures in infancy with massive systemic to pulmonary collateral arteries. (2017)
  • Author(s): *Kawasaki Y, Kuki I, Ehara E, Murakami Y, Okazaki S, Kawawaki H, Hara M, Watanabe Y, Kishimoto S, Suda K, Saitsu H, Matsumoto N.
  • Journal Title: J Pediatr Volume: 191 Pages: 270-274
  • DOI: 10.1016/j.jpeds.2017.08.057
  • Peer Reviewed
• [Journal Article] X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. (2017)
  • Author(s): *Miyake N, *Wolf N# (# correspondence), *Cayami F (*: equal contribution), et al., Matsumoto N, et al..
  • Journal Title: Neurogenetics Volume: 18(4) Issue: 4 Pages: 185-194
  • DOI: 10.1007/s10048-017-0520-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions (2017)
  • Author(s): Miyatake Satoko、Koshimizu Eriko、Shirai Ikuko、Kumada Satoko、Nakata Yasuhiro、Kamemaru Aiko、Nakashima Mitsuko、Mizuguchi Takeshi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Movement Disorders Volume: 33 Issue: 1 Pages: 177-179
  • DOI: 10.1002/mds.27219
  • Peer Reviewed
• [Presentation] Rare Variants in Human Diseases: Single-gene disorders (2020)
  • Author(s): 松本直通
  • Organizer: 京都大学・マギル大学ゲノム医学国際連携専攻講義
  • Invited
• [Presentation] 希少難治疾患の遺伝子・ゲノム解析拠点研究 (2020)
  • Author(s): 松本直通
  • Organizer: 横浜市立大学企画記者懇談会
  • Invited
• [Presentation] 希少難病の高精度診断と病態解明のためのオミックス拠点の構築 (2020)
  • Author(s): 松本直通
  • Organizer: 2019年度合同成果報告会（難治性疾患実用化研究事業）
  • Invited
• [Presentation] 希少難治疾患の原因遺解明：ロングリードシーケンスの活用法 (2020)
  • Author(s): 松本直通
  • Organizer: 田辺三菱製薬株式会社・全ゲノム解析講演会
  • Invited
• [Presentation] オミックス・IRUD解析拠点における希少疾患のゲノム解析 (2020)
  • Author(s): 松本直通
  • Organizer: 第15回広島臨床遺伝セミナー
  • Invited
• [Presentation] Sequel を用いた疾患ゲノム解析 (2019)
  • Author(s): 松本直通
  • Organizer: PacBioユーザーグループミーティング
  • Invited
• [Presentation] Sequel sequencing applied to disease-genome analysis (2019)
  • Author(s): Naomichi Matsumoto
  • Organizer: PacBio user group meeting(Beijing, China)
  • Invited
• [Presentation] 周産期異常とゲノム解析 (2019)
  • Author(s): 松本直通
  • Organizer: 九州大学医学部講義（受胎・成長・発達）
• [Presentation] RNA sequencing solved the most common but unrecognized pathogenic variant in Japanese nemalin myopathy (2019)
  • Author(s): Naomichi Matsumoto
  • Organizer: Forum of Neuroscience 2019
  • Int'l Joint Research / Invited
• [Presentation] RNA sequencing solved the most common but unrecognized pathogenic variant in Japanese nemalin myopathy”(Poster) (2019)
  • Author(s): Naomichi Matsumoto, Kohei Hamanaka and Satoko Miyatake
  • Organizer: ESHG 2019
  • Int'l Joint Research
• [Presentation] Long Read Sequencing技術の成果 (2019)
  • Author(s): 松本直通
  • Organizer: IRUD workshop
  • Invited
• [Presentation] PPP3CAの機能獲得型変異と機能喪失型変異は異なる疾患を惹起する (2019)
  • Author(s): 松本直通
  • Organizer: IRUD workshop
  • Invited
• [Presentation] Whole exome sequencingで解決できない症例へのアプローチ (2019)
  • Author(s): 松本直通
  • Organizer: 日本筋学会第5回学術集会
  • Invited
• [Presentation] 難病領域の単一遺伝子性疾患に対する全ゲノム解析 (2019)
  • Author(s): 松本直通
  • Organizer: 難病に関するゲノム医療の推進に関する検討会
  • Invited
• [Presentation] Long read sequencing for “difficult regions” (2019)
  • Author(s): Naomichi Matsumoto
  • Organizer: CNV research meeting
  • Invited
• [Presentation] Long read sequencing for disease-genome analysis: our experiences (2019)
  • Author(s): Naomichi Matsumoto
  • Organizer: PacBio ASHG 2019 Workshop
  • Invited
• [Presentation] EE/DEE関連遺伝子研究の進歩 (2019)
  • Author(s): 松本直通
  • Organizer: 第53回日本てんかん学会学術集会
  • Invited
• [Presentation] ロングリードシーケンスによる疾患ゲノム解析 (2019)
  • Author(s): 松本直通
  • Organizer: 第64回日本人類遺伝学会学術集会
  • Invited
• [Presentation] 人類遺伝学 (2019)
  • Author(s): 松本直通
  • Organizer: 長崎大学医学部講義
  • Invited
• [Presentation] 人類遺伝学 (2019)
  • Author(s): 松本直通
  • Organizer: 東京大学医学部講義
  • Invited
• [Presentation] Long read sequencing による疾患ゲノム解析 (2019)
  • Author(s): 松本直通
  • Organizer: 第61回164委員会
  • Invited
• [Presentation] 進行性ミオクローヌスてんかんの原因となる12-kb欠失：長鎖シーケンスの活用法 (2019)
  • Author(s): 松本直通
  • Organizer: 精神・神経疾患研究開発費30-6「運動症状を主症状とする小児期発症稀少難治性神経疾患研究」班会議
  • Invited
• [Presentation] 希少難病の原因解明の現状とその先へ (2019)
  • Author(s): 松本直通
  • Organizer: .IRUD講演会
  • Invited
• [Presentation] 次世代シーケンサー解析の現状と問題点 (2018)
  • Author(s): 松本直通
  • Organizer: 第121回日本小児科学会学術集会・総合シンポジウム3
  • Invited
• [Presentation] 次世代シーケンサーによる遺伝性疾患解析の現状と課題 (2018)
  • Author(s): 松本直通
  • Organizer: 第24回日本家族性腫瘍学会学術集会
  • Invited
• [Presentation] etection of copy number variations in epilepsy using exome data (2018)
  • Author(s): Naomichi Matsumoto and Naomi Tsuchida.
  • Organizer: ESHG 2018
  • Int'l Joint Research
• [Presentation] 神経疾患とNGS解析 (2018)
  • Author(s): 松本直通
  • Organizer: 第3回神経代謝病研究会・教育講演
  • Invited
• [Presentation] ヒト疾患ゲノム解析の到達点と問題点 (2018)
  • Author(s): 松本直通
  • Organizer: 第58回日本先天異常学会学術集会・特別講演
  • Invited
• [Presentation] 遺伝性疾患解明に取り組んだ四半世紀 (2018)
  • Author(s): 松本直通
  • Organizer: 第63回日本人類遺伝学会大会・会長講演
• [Presentation] 遺伝性疾患のNGS解析の現状,そしてその先へ (2018)
  • Author(s): 松本直通
  • Organizer: 第13回九州遺伝子診断研究会・特別講演
  • Invited
• [Presentation] 高感度な体細胞モザイク変異同定への戦略 (2018)
  • Author(s): 松本直通
  • Organizer: アジレントゲノミクスフォーラム講師
  • Invited
• [Presentation] Genomics in epilepsy moving forward to the next frontier (2018)
  • Author(s): Naomichi Matsumoto,
  • Organizer: International Child Neurology Conference 2018
  • Int'l Joint Research / Invited
• [Presentation] Rare variants in human diseases (2018)
  • Author(s): Naomichi Matsumoto
  • Organizer: Lecture for Kyoto-McGill International Collaborative Program Students
  • Invited
• [Presentation] 「タンパク質翻訳後修飾拠点におけるゲノム解析研究」 (2018)
  • Author(s): 松本直通
  • Organizer: 第８回国際公開シンポジウム
• [Presentation] “Rare genomic variants in human diseases” (2018)
  • Author(s): Naomichi Matsumoto
  • Organizer: 14.International Symposium on Approaching from model organisms to rare and undiagnosed diseases
• [Presentation] 「次世代シーケンス研究で直面する様々な問題点に対する取り組み」 (2017)
  • Author(s): 松本直通
  • Organizer: NGS現場の会・スポンサードセッション
  • Invited
• [Presentation] “Biallelic mutations in the myopalladin gene, MYPN, are associated with childhood-onset, slowly progressive nemaline myopathy” (2017)
  • Author(s): Naomichi Matsumoto and Satoko Miyatake
  • Organizer: ESHG 2017
  • Invited
• [Presentation] 「周産期異常とゲノム解析」 (2017)
  • Author(s): 松本直通
  • Organizer: 九州大学医学部講義（受胎・成長・発達）
  • Invited
• [Presentation] 「ヒト疾患とRare Variants」 (2017)
  • Author(s): 松本直通
  • Organizer: 第20回山梨神経先端セミナー
• [Presentation] “Rare variants in human diseases” (2017)
  • Author(s): Naomichi Matsumoto
  • Organizer: IX International Congress Cornelia de Lange Syndrome,
• [Presentation] “Rare variants in human diseases” (2017)
  • Author(s): Naomichi Matsumoto
  • Organizer: Lecture for department of Medical Genetics, University of Sao Paulo
• [Presentation] 「最新のNGS 研究の動向と新しい展開」 (2017)
  • Author(s): 松本直通
  • Organizer: 第22回日本ライソゾーム病研究会特別講演
• [Presentation] 「体細胞モザイク変異とヒト疾患」 (2017)
  • Author(s): 松本直通
  • Organizer: 日本環境変異原学会（JEMS）第46回大会シンポジウム
• [Presentation] “Rare variants in Rare and Intractable diseases” (2017)
  • Author(s): Naomichi Matsumoto
  • Organizer: 9.International Symposium on Genomic Medicine-Genomics of Rare and Intractable Diseases
• [Presentation] 「ロングリードシーケンサーSequelを用いた疾患ゲノム解析の試み」 (2017)
  • Author(s): 松本直通
  • Organizer: 第62回日本人類遺伝学会学術集会ランチョンセミナー
• [Presentation] 「次世代シーケンサーがもたらした希少”遺伝性”疾患解析の現状と展望」 (2017)
  • Author(s): 松本直通
  • Organizer: 協和発酵キリン㈱富士リサーチパークセミナー
• [Presentation] “How to Detect Ultra-Low-Level Somatic Mutations.” (2017)
  • Author(s): Naomichi Matsumoto
  • Organizer: AES Annual Meeting 2017, Investigator Workshop 2: Somatic mutation: the ‘hidden genetics’ of brain malformations.
• [Remarks] 横浜市大ニュース「神経核内封入体病(NIID)の原因遺伝子を同定」令和元年7月23日
  • URL: https://www.yokohama-cu.ac.jp/amedrc/news/201907matsumoto_NatureGenetics.html
• [Remarks] 日経BP Beyond Health（インタビュー） 令和元年12月25日
  • URL: https://project.nikkeibp.co.jp/behealth/atcl/feature/00022/122400004/