研究業績

原著論文

2024年

1. Li S#, Takada S# (#:co-first), Abdel-Salam GMH, Abdel-Hamid MS, Zaki MS, Issa MY, Salem AMS, Koshimizu E, Fujita A, Fukai R, Ohshima T, Matsumoto N, Miyake N.
   Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
   NPJ Genom Med. 2024 Nov 5;9(1):55. doi: 10.1038/s41525-024-00437-5.
2. Kimura S, Miyake N, Ozasa S, Ueno H, Ohtani Y, Takaoka Y, Nishino I.
   Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.
   Neuropathology. 2024 Jul 16. doi: 10.1111/neup.12995. Online ahead of print.
3. Wang Z, Kometani M, Zeitlin L, Wilnai Y, Kinoshita A, Yoshiura KI, Ninomiya H, Imamura T, Guo L, Xue J, Yan L, Ohashi H, Pretemer Y, Kawai S, Shiina M, Ogata K, Cohn DH, Matsumoto N, Nishimura G, Toguchida J, Miyake N, Ikegawa S.
   Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
   J Hum Genet. 2024 Jul 16. doi: 10.1038/s10038-024-01274-1. Online ahead of print.
4. Sugeno N, Kumada S, Kashii H, Ikezawa J, Kawarai T, Nakamura T, Miyata A, Ishiyama S, Sato K, Yoshida S, Sekiguchi H, Hamanaka K, Miyatake S, Miyake N, Matsumoto N, Akagawa H, Kosaki K, Yoshihashi H, Hasegawa T, Aoki M.
   “Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.” Parkinsonism Relat Disord. 2024 May 27;124:107018. doi: 10.1016/j.parkreldis.2024.107018. Online ahead of print.
5. Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K.
   “A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.”
   J Exp Med. 2024 Jun 3;221(6):e20231941. doi: 10.1084/jem.20231941.
6. Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M.
   “Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.”
   Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007.
7. Kaburagi K, Hagiwara Y, Tachikawa K, Miyake N, Akiyama H, Kawai Y, Omae Y, Tokunaga K, Yamano Y, Shimizu T, Mitsuhashi S.
   “A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.”
   BMC Neurol. 2024 Apr 11;24(1):119. doi: 10.1186/s12883-024-03619-x.
8. Higashimoto K, Sun F, Imagawa E, Saida K,Miyake N, Hara S, Yatsuki H, Kubiura-Ichimaru M, Fujita A, Mizuguchi T, Matsumoto N, Soejima H.
   “Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.”
   J Med Genet. 2024 Jan 16:jmg-2023-109621. doi: 10.1136/jmg-2023-109621. Online ahead of print.
9. Takada S, Silva S, Zamorano I, Pérez A, Iwabuchi C,Miyake N
   “Human phenotype caused by biallelic KDM4B frameshift variant.”
   Clin Genet. 2024 Jan;105(1):72-76. doi: 10.1111/cge.14409.

2023年

1. 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 Oct 19;66(4):463-466. doi: 10.33160/yam.2023.11.005.
2. Nishi E, Miyake N, Kawamura R, Hosoki K, Hasegawa Y, Matsumoto N, Okamoto N. “Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.”
   Am J Med Genet A. 2024 Feb;194(2):268-278. doi: 10.1002/ajmg.a.63424.
3. 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 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001.
4. 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 May 14;14(5):1079. doi: 10.3390/genes14051079.
5. 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 May;103(5):590-595. doi: 10.1111/cge.14292. Epub 2023 Jan 7.PMID: 36576140
6. 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, Nakamura K, 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 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. PMID: 36973392
7. 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 Mar 2;11(1):33. doi: 10.1186/s40478-023-01532-x. PMID: 36864519
8. 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 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. PMID: 36653413
9. 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 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31.PMID: 36318270

2022年

1. 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 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. PMID: 36305856
2. 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 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8.
3. 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 RNF213 p.R4810K Variant.”
   eurol Genet. 2022 Sep 9;8(5):e200017. doi: 10.1212/NXG.0000000000200017.
4. 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 ERCC8 variants."
   Aging (Albany NY). 2022 Jun 22;14(undefined). doi: 10.18632/aging.204139. (in press)
5. 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 Jul 11;12(1):265. doi: 10.1038/s41398-022-02033-6.
6. 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 Jul;102(1):3-11. doi: 10.1111/cge.14133.
7. 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 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363.
8. 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 May 3. doi: 10.1007/s00439-022-02437-w. Online ahead of print.
9. 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 May 17;9(1):13. doi: 10.1038/s41439-022-00192-y.
10. 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 Jun 6;9(1):21. doi: 10.1038/s41439-022-00200-1.
11. 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 S.
    Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.”
    J Med Genet. 2022 May;59(5):511-516. doi: 10.1136/jmedgenet-2020-107462. 
12. Miyake N*, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N.
    “A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.”
    Clin Genet. 2022 Mar;101(3):359-363. doi: 10.1111/cge.14097.
13. Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L.
    “SLC4A2 Deficiency Causes a New Type of Osteopetrosis.”
    J Bone Miner Res. 2022 Feb;37(2):226-235. doi: 10.1002/jbmr.4462.
14. 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 Feb;44(2):173-177. doi: 10.1016/j.braindev.2021.09.009.
15. Minatogawa M,Miyake N, Tsukahara Y, Tanabe Y, Uchiyama T, Matsumoto N, Kosho T.
    Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
    Am J Med Genet A. 2022 Jan;188(1):350-356. doi: 10.1002/ajmg.a.62516.

2021年

1. 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 Dec;100(6):722-730. doi: 10.1111/cge.14066.
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 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224.
3. 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 Dec;51(12):4655-4662. doi: 10.1007/s10803-021-04910-3.
4. 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, Kobayashi 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 CHST14 (mcEDS-CHST14).”
   J Med Genet. 2021 Nov 23:jmedgenet-2020-107623. doi: 10.1136/jmedgenet-2020-107623.
5. 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 Nov;43(10):1023-1028. doi: 10.1016/j.braindev.2021.07.002.
6. 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 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809.
7. 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 Oct 25;11(1):548. doi: 10.1038/s41398-021-01676-1.
8. 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 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137.
9. 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 Sep;100(3):318-323. doi: 10.1111/cge.13980.
10. 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 SMN complex gene GEMIN5 cause cerebellar atrophy.”
    Clin Genet. 2021 Dec;100(6):722-730. doi: 10.1111/cge.14066. Epub 2021 Oct 7
11. Miyake N, Kim CA, Haginoya K, Castro MAA, Honjo RS, Matsumoto N.
    “De novo pathogenic DHX30 variants in two cases.”
    Clin Genet. 2021 Sep;100(3):350-351. doi: 10.1111/cge.14013. Epub 2021 Jun 28. PMID: 34180050
12. 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 Sep 1;S0387-7604(21)00131-5.
13. 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 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. PMID: 32732225
14. 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 Jul 12;8(1):26. doi: 10.1038/s41439-021-00157-7.
15. 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 Aug;43(7):798-803. doi: 10.1016/j.braindev.2021.03.008.
16. Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H.
    “ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.”
    Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5.
17. 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 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8.
18. 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 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021.
19. Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N.
    “De novo ATP1A3 variants cause polymicrogyria.”
    Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar.
20. Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
    “OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.”
    Front Cell Dev Biol. 2021 Mar 3;9:631428. doi: 10.3389/fcell.2021.631428. eCollection 2021
21. 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 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5
22. 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 May;185(5):1561-1568. doi: 10.1002/ajmg.a.62140. Epub 2021 Mar 1.
23. 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 Feb 15. doi: 10.1007/s10803-021-04910-3. Online ahead of print.
24. 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; Undiagnosed Diseases Network, 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 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan.
25. Miyake N*, de Oliveira Stephan B, Kim CA, Matsumoto N.
    A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion.
    Clin Genet. Apr;99(4):607-608. doi: 10.1111/cge.13909.
26. 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 Jun;66(6):607-611.　doi: 10.1038/s10038-020-00891-w.

著書（英語）

1. Miyake N*
   “Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.” Review
   Pediatr Int. 2024 Jan-Dec;66(1):e15760. doi: 10.1111/ped.15760.
2. Miyake N*, Kosho T, Matsumoto N.
   "Ehlers–Danlos syndrome associated with glycosaminoglycan abnormalities"
   Progress in Heritable Soft Connective Tissue Diseases: Book Editor: Halper J.
   Adv Exp Med Biol 2021;1348:235-249. doi: 10.1007/978-3-030-80614-9_10.
3. Kosho T*, Miyake N*.
   "Coffin-Siris syndrome."
   Cassidy and Allanson's Management of Genetic Syndromes. Book Editor(s): John C. Carey, Agatino Battaglia, David Viskochil, Suzanne B. Cassidy. 2021.

著書（日本語）

1. 三宅紀子*
   小児科診療 遺伝学的検査 Up to Date
   担当章　“次世代シークエンスの基本を学ぼう！”
2. 三宅紀子*
   遺伝子医学 49号　特集　精神疾患と遺伝
   担当章　“自閉スペクトラム症のゲノム解析ーレアバリアントを中心に”
3. 三宅紀子*
   医学のあゆみ 285巻1号 全ゲノム解析に基づく 難病のゲノム医学　2023
   担当章　“難病の全ゲノムに関する実証事業”
4. 三宅紀子*
   臨床遺伝専門医テキスト①　臨床遺伝学総論　2021
   担当章　"分子遺伝学"
5. 三宅紀子*
   小児遺伝疾患辞典　小児科診療　2021
   担当章　"ARID1B (関連疾患：Coffin-Siris症候群、Nicolaides-Baraitser症候群)"
6. 三宅紀子*
   エピゲノムで新たな解明が進む「先天性疾患」　遺伝子医学MOOK　2021
   担当章　"Weaver症候群"
7. 三宅紀子*
   原発性免疫不全症候群　日本臨牀 78巻　増刊号7
   担当章　"KMT2A欠損症 (Wiedemann-Steiner 症候群)

翻訳

• 三宅紀子*
  ヒトの分子遺伝学　第5版（Human Molecular Genetics, 5th Edition, Chapter 16 Molecular pathology: connecting phenotypes to genotypes）
  担当章：16章

2020年以前の主な業績（をクリック）