(2023)

Abe T, Yamashita K, Kikuchi K, Hatai E, Fujii F, Chong PF, Sakai Y, Saitsu H, Inoue K, Togao O, Ishigami K. Diagnostic MR imaging features of hypomyelination of early myelinating structures: A case report. Neuroradiol J. 2023 Dec 25:19714009231224419. doi: 10.1177/19714009231224419. Epub ahead of print. PMID:38146229.

Kawakami R, Hiraide T, Watanabe K, Miyamoto S, Hira K, Komatsu K, Ishigaki H, Sakaguchi K, Maekawa M, Yamashita K, Fukuda T, Miyairi I, Ogata T, Saitsu H. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing. J Hum Genet. 2023 Dec 15. doi:10.1038/s10038-023-01211-8. Epub ahead of print. PMID: 38102195.

Yamoto K, Kato F, Yamoto M, Fukumoto K, Shimizu K, Saitsu H, Ogata T. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis. Congenit Anom (Kyoto). 2023 Dec 7. doi: 10.1111/cga.12548. Epub ahead of print. PMID: 38062907.

Samejima M, Nakashima M, Shibasaki J, Saitsu H, Kato M. Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome. Brain Dev. 2023 Dec 2:S0387-7604(23)00177-8. doi: 10.1016/j.braindev.2023.11.007. Epub ahead of print. PMID: 38044197.

Watanabe K, Kubota K, Nakashima M, Saitsu H. A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. Hum Genome Var. 2023 Nov 22;10(1):30. doi: 10.1038/s41439-023-00256-7. PMID:37993422; PMCID: PMC10665374.

Masunaga Y, Ono H, Fujisawa Y, Taniguchi K, Saitsu H, Ogata T. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature. Endocr J. 2023 Nov 22. doi: 10.1507/endocrj.EJ23-0502. Epub ahead of print. PMID: 37989294.

Aoki S, Watanabe K, Kato M, Konishi Y, Kubota K, Kobayashi E, Nakashima M, Saitsu H. Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. Neurogenetics. 2023 Oct 26. doi: 10.1007/s10048-023-00737-5. Online ahead of print.

Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H. Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence. Am J Med Genet A. 2023 Oct 23. doi: 10.1002/ajmg.a.63453

Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y. The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients. Int J Mol Sci. 2023 Sep 5;24(18):13678. doi: 10.3390/ijms241813678.

Fujisawa Y, Masunaga Y, Tanikawa W, Nakashima S, Ueda D, Sano S, Fukami M, Saitsu H, Yazawa T, Ogata T. Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis. J Steroid Biochem Mol Biol. 2023 Nov;234:106403. doi: 10.1016/j.jsbmb.2023.106403. Epub 2023 Sep 22.

Yoh Y, Shiohama T, Uchida T, Ebata R, Kobayashi H, Okunushi K, Kato M, Watanabe K, Nakashima M, Saitsu H, Hamada H. Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome. Front Genet. 2023 Aug 8;14:1221745. doi: 10.3389/fgene.2023.1221745.

Kobayashi Y, Tohyama J, Akasaka N, Yamada K, Hojo M, Seki E, Miura M, Soma N, Ono T, Kato M, Nakashima M, Saitsu H, Matsumoto N. The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Hum Genome Var. 2023 Jun 23;10(1):20. doi: 10.1038/s41439-023-00247-8

Akiyama M, Akiyama T, Saitsu H, Tokioka Y, Tsukahara R, Tsuchiya H, Shibata T, Kobayashi K. A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation. Brain Dev. 2023 Nov;45(10):597-602. doi: 10.1016/j.braindev.2023.07.006.

Ikeda A, Kumaki T, Tsuyusaki Y, Tsuji M, Enomoto Y, Fujita A, Saitsu H, Matsumoto N, Kurosawa K, Goto T. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan. Front Neurol. 2023 May 12;14:1085228. doi: 10.3389/fneur.2023.1085228. eCollection 2023.

Miyamoto S, Nakamura K, Kato M, Nakashima M, Saitsu H. Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome. Ann Hum Genet. 2023 Mar 27. doi: 10.1111/ahg.12507. Epub ahead of print. PMID: 36970932.

Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y. A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the
DCN gene. Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8. PMID: 36964172; PMCID: PMC10039048.

Hiraide T, Shimizu K, Okumura Y, Miyamoto S, Nakashima M, Ogata T, Saitsu H. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. J Hum Genet. 2023 Mar 10. doi:
10.1038/s10038-023-01143-3. Epub ahead of print. PMID: 36894704.

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; PMCID: PMC9983246.

(2022)

Nakashima M, Argilli E, Nakano S, Sherr EH, Kato M, Saitsu H. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. J Hum Genet. 2022 Dec 20. doi: 10.1038/s10038-022-01106-0. Epub ahead of print. PMID: 36536096.

Komatsu K, Sakaguchi K, Shimizu D, Yamoto K, Kato F, Miyairi I, Ogata T, Saitsu H. Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR. Pediatr Blood Cancer. 2022 Dec 5:e30120. doi: 10.1002/pbc.30120. Epub ahead of print. PMID: 36468647.

Fukahori K, Yamoto K, Saitsu H, Ogata T, Nagasaki K. PORCN-related
microphthalmia with limb anomalies: Case report and literature review. Am J Med Genet A. 2023 Feb;191(2):636-639. doi: 10.1002/ajmg.a.63048. Epub 2022 Nov 19. PMID: 36401583.

Hikoya A, Hosono K, Ono K, Arai S, Tachibana N, Kurata K, Torii K, Sato M, Saitsu H, Ogata T, Hotta Y. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. Ophthalmic Genet. 2022 Nov
7:1-6. doi: 10.1080/13816810.2022.2141788. Epub ahead of print. PMID: 36341712.

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, Gursoy 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 Oct 28:S1098-3600(22)00898-X. doi: 10.1016/j.gim.2022.08.007. Epub ahead of print. PMID: 36305856.

Islam MM, Mutoh H, Aoto K, Belal H, Saitsu H. Cnpy3^2ｘHA mice reveal neuronal expression of Cnpy3 in the brain. J Neurosci Methods. 2022 Oct 21;383:109730. doi: 10.1016/j.jneumeth.2022.109730. Epub ahead of print. PMID: 36280087.

Hiraide T, Akita T, Uematsu K, Miyamoto S, Nakashima M, Sasaki M, Fukuda A, Kato M, Saitsu H. A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. J Hum Genet. 2022 Oct 18. doi: 10.1038/s10038-022-01090-5. Epub ahead of print. PMID: 36257979.

Aoto K, Takabayashi S, Mutoh H, Saitsu H. Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and β Proteins. Int J Mol Sci. 2022 Oct 7;23(19):11915. doi:
10.3390/ijms231911915. PMID: 36233218; PMCID: PMC9569722.

Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022 Oct 12;12(1):17079. doi: 10.1038/s41598-022-21751-x. PMID: 36224347; PMCID: PMC9556533.

Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. The ATRX splicing variant c.21-1G>A is asymptomatic. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. PMID: 36104326; PMCID: PMC9474544.

Sano S, Masunaga Y, Kato F, Fujisawa Y, Saitsu H, Ogata T. Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review. Clin Pediatr Endocrinol. 2022;31(3):172-177. doi:
10.1297/cpe.2022-0020. Epub 2022 Apr 23. PMID: 35928375; PMCID: PMC9297172.

Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akutsu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus. J Bone Miner Res. 2022 Oct;37(10):1850-1859. doi:
10.1002/jbmr.4652. Epub 2022 Aug 17. PMID: 35859320.

Hashiguchi M, Monden Y, Nozaki Y, Watanabe K, Nakashima M, Saitsu H, Yamagata T, Osaka H. A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Hum Genome Var. 2022 Jun 3;9(1):19. doi:
10.1038/s41439-022-00198-6. PMID: 35661708; PMCID: PMC9166743.

Watanabe K, Nakashima M, Wakatsuki R, Bunai T, Ouchi Y, Nakamura T, MiyajimaH, Saitsu H. Cognitive Impairment in a Complex Family With AAGGG and ACAGGRepeat Expansions in RFC1 Detected by ExpansionHunter Denovo. Neurol Genet. 2022May 16;8(3):e682. doi: 10.1212/NXG.0000000000000682. PMID: 36381255; PMCID:PMC9641967.

Abe K, Ando K, Kato M, Saitsu H, Nakashima M, Aoki S, Kimura T. A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3. Neurol Genet. 2022 May 9;8(3):e680. doi: 10.1212/NXG.0000000000000680. PMID: 35620139; PMCID: PMC9128070.

Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. PMID: 35468861; PMCID:PMC9040275.

Komatsu K, Fukumura S, Minagawa K, Nakashima M, Saitsu H. A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome. Brain Dev. 2022 Apr 7:S0387-7604(22)00055-9. doi: 10.1016/j.braindev.2022.03.008. Epub ahead of print. PMID: 35400548.

Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T. ACAN biallelic variants in a girl with severe idiopathic short stature. J Hum Genet. 2022 Mar 22. doi: 10.1038/s10038-022-01030-3. Epub ahead of print. PMID: 35314765.

Sakata Y, Sano K, Aoki S, Saitsu H, Takanashi JI. Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy. Brain Dev. 2022 Feb 23:S0387-7604(22)00020-1. doi:10.1016/j.braindev.2022.02.001. Epub ahead of print. PMID: 35219564.

Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. PMID: 35205402; PMCID: PMC8872353.

Furukawa S, Miyamoto S, Fukumura S, Kubota K, Taga T, Nakashima M, Saitsu H. Two novel heterozygous variants in ATP1A3 cause movement disorders. Hum Genome Var. 2022 Feb 18;9(1):7. doi: 10.1038/s41439-022-00184-y. PMID: 35181663; PMCID: PMC8857201.

Miyamoto S, Nakashima M, Fukumura S, Kumada S, Saitsu H. An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation. Neurogenetics. 2022 Apr;23(2):129-135. doi: 10.1007/s10048-022-00686-5. Epub 2022 Feb 11. PMID: 35147852.

Kurata K, Hosono K, Takayama M, Katsuno M, Saitsu H, Ogata T, Hotta Y. Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101298. doi:10.1016/j.ajoc.2022.101298. PMID: 35112026; PMCID: PMC8789597.

Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet. 2022 Jan 24. doi: 10.1038/s10038-022-01016-1. Epub ahead of print. PMID: 35067677.

Mutoh H, Aoto K, Miyazaki T, Fukuda A, Saitsu H. Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ. J Neurosci Res. 2022 Mar;100(3):880-896. doi: 10.1002/jnr.25013. Epub 2022 Jan 18. PMID: 35043465.

Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H Ogata T. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Am J Med Genet A. 2022 Jan 10. doi: 10.1002/ajmg.a.62649. Epub ahead of print. PMID: 35005837.

Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, Nakashima M, Saitsu H, Ogata T. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. J Hum Genet. 2022 Jan 9. doi: 10.1038/s10038-021-01000-1. Epub ahead of print. PMID: 34999728.

(2021)

Matsushita HB, Hiraide T, Hayakawa K, Okano S, Nakashima M, Saitsu H, Kato M. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation. Brain Dev. 2021 Nov 5:S0387-7604(21)00189-3. doi:10.1016/j.braindev.2021.10.004.

Yamamoto A, Fukumura S, Habata Y, Miyamoto S, Nakashima M, Takashima S, Kawasaki Y, Shimozawa N, Saitsu H. Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review. Child Neurol Open. 2021 Oct 11;8:2329048X211048613. doi:10.1177/2329048X211048613.

Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, Saitsu H. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay. Brain Dev. 2022 Feb;44(2):178-183. doi:10.1016/j.braindev.2021.09.006.

Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y. Progressive cerebral atrophies in three children with COL4A1 mutations. Brain Dev. 2021 Nov;43(10):1033-1038. doi: 10.1016/j.braindev.2021.06.008.

Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H*. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. J Hum Genet. 2021 Dec;66(12):1193-1197. doi:10.1038/s10038-021-00956-4.

Miyamoto S, Kato M, Sugiyama K, Horiguchi R, Nakashima M, Aoto K, Mutoh H, Saitsu H*. A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies. J Hum Genet. 2021 Dec;66(12):1189-1192. doi:10.1038/s10038-021-00953-7.

Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H*. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. J Hum Genet. 2021 Dec;66(12):1185-1187. doi:10.1038/s10038-021-00948-4.

Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Brain Dev. 2021 Oct;43(9):945-951. doi: 10.1016/j.braindev.2021.05.013.

Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin Epigenetics. 2021 May 26;13(1):119. doi: 10.1186/s13148-021-01106-5.

Itai T, Miyatake S, Hatano T, Hattori N, Ohno A, Aoki Y, Itomi K, Mori H, Saitsu H, Matsumoto N. Cerebrovascular diseases in two patients with entire NSD1 deletion. Hum Genome Var. 2021 May 24;8(1):20. doi: 10.1038/s41439-021-00151-z.

Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong PF, Kira R, Matsushita HB, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. J Hum Genet. 2021 Nov;66(11):1061-1068. doi: 10.1038/s10038-021-00932-y.

Negishi Y, Aoki Y, Itomi K, Yasuda K, Taniguchi H, Ishida A, Arakawa T, Miyamoto S, Nakashima M, Saitsu H, Saitoh S. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation. Brain Dev. 2021 Aug;43(7):804-808. doi: 10.1016/j.braindev.2021.03.004.

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,* and 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.

Masunaga Y, Kagami M, Kato F, Usui T, Yonemoto T, Mishima K, Fukami M, Aoto K, Saitsu H, Ogata T. Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia. Clin Epigenetics. 2021 Apr 7;13(1):73. doi: 10.1186/s13148-021-01062-0.

Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, Matsumoto N. Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome. Clin Case Rep. 2021 Feb 6;9(3):1711-1715. doi:10.1002/ccr3.3883. PMID: 33768920; PMCID: PMC7981633.

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. PMID: 33762331.

Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H*. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Clin Genet. 2021 Feb 28. doi: 10.1111/cge.13951. Epub ahead of print. PMID:33644862.

Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. J Hum Genet. 2021 Feb 27. doi:10.1038/s10038-021-00909-x. Epub ahead of print. PMID: 33640901.

Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. Endocr J. 2021 Feb 11. doi: 10.1507/endocrj.EJ20-0706. Epub ahead of print. PMID: 33583911

Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants. Brain Dev. 2021 Apr;43(4):505-514. doi:10.1016/j.braindev.2020.12.006. Epub 2021 Jan 9. PMID: 33436160

Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev. 2021 Mar;43(3):402-410. doi:10.1016/j.braindev.2020.10.013

Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. 2021 Mar;43(3):470-474. doi: 10.1016/j.braindev.2020.10.010. Epub ahead of print. PMID: 33199157.

Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. PMID: 33131106.

Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. J Hum Genet. 2021 Apr;66(4):439-443. doi: 10.1038/s10038-020-00858-x. PMID: 33067531.

Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. J Hum Genet. 2021 Apr;66(4):401-407. doi: 10.1038/s10038-020-00853-2. PMID: 33040083.

Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. Endocr J. 2021 Jan 28;68(1):111-117. doi: 10.1507/endocrj.EJ20-0291. PMID: 32879144.

(2020)

Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M. Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review. Epilepsy Behav Rep. 2020 Dec 17;15:100417. doi:10.1016/j.ebr.2020.100417. PMID: 33490948; PMCID: PMC7808918.

Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. Eur J Med Genet. 2020 Dec;63(12):104061. doi: 10.1016/j.ejmg.2020.104061. PMID: 32890691

Akamine S, Okuzono S, Yamamoto H, Setoyama D, Sagata N, Ohgidani M, Kato TA, Ishitani T, Kato H, Masuda K, Matsushita Y, Ono H, Ishizaki Y, Sanefuji M, Saitsu H, Matsumoto N, Kang D, Kanba S, Nakabeppu Y, Sakai Y, Ohga S. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. FASEB J. 2020 Dec;34(12):16601-16621. doi: 10.1096/fj.202001113R. Epub 2020 Oct 27. PMID: 33107105.

Kashiki H, Li H, Miyamoto S, Ueno H, Tsurusaki Y, Ikeda C, Kurata H, Okada T, Shimazu T, Imamura H, Enomoto Y, Takanashi JI, Kurosawa K, Saitsu H, Inoue K. POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy. Neurol Genet. 2020 Oct 13;6(6):e524. doi:10.1212/NXG.0000000000000524. PMID: 33134519; PMCID: PMC7577547.

Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. Sci Rep. 2020 Oct 15;10(1):17375. doi: 10.1038/s41598-020-74405-1. PMID: 33060765; PMCID: PMC7567082.

Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. PMID: 32913952; PMCID: PMC7469791.

Nishikawa A, Otani Y, Ito S, Nagata S, Shiota M, Takanashi JI, Nakashima M, Saitsu H, Matsumoto N, Oguni H. A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS). Epileptic Disord. 2020 Aug 1;22(4):476-481. doi:10.1684/epd.2020.1183. PMID: 32759093.

Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F. De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies. J Neurol Sci. 2020 Sep 15;416:117047. doi: 10.1016/j.jns.2020.117047. PMID: 32736238.

Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts. Eur J Med Genet. 2020 Nov;63(11):104060. doi: 10.1016/j.ejmg.2020.104060. PMID: 32889144.

Nishikawa A, Otani Y, Ito S, Nagata S, Shiota M, Takanashi JI, Nakashima M, Saitsu H, Matsumoto N, Oguni H. A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS). Epileptic Disord. 2020 Aug 1;22(4):476-481. doi: 10.1684/epd.2020.1183. PMID: 32759093.

Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet. 2020 Jul 30:jmedgenet-2020-106896. doi:10.1136/jmedgenet-2020-106896.

Ikemoto S, Hamano SI, Kikuchi K, Koichihara R, Hirata Y, Matsuura R, Hiraide T, Nakashima M, Inoue K, Kurosawa K, Saitsu H. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay. Brain Dev. 2020 Sep;42(8):603-606. doi: 10.1016/j.braindev.2020.06.002. Epub 2020 Jun 25. PMID: 32595021

Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T. Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Clin Case Rep. 2020 Apr 6;8(6):1076-1080. doi: 10.1002/ccr3.2826. PMID: 32577269; PMCID: PMC7303873.

Hiraide T, Nakashima M, Ikeda T, Tanaka D, Osaka H, Saitsu H*. Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. J Hum Genet. 2020 Oct;65(10):921-925. doi: 10.1038/s10038-020-0786-y. Epub 2020 Jun 1. PMID: 32483275.

Kobayashi H, Shiohama T, Nakashima M, Saitsu H, Suga Y, Ebata R, Shimojo N. Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant. Am J Med Genet A. 2020 Aug;182(8):1933-1938. doi:10.1002/ajmg.a.61626. PMID: 32449269.

Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65(9):727-734. doi: 10.1038/s10038-020-0758-2. Epub 2020 Apr 27. PMID: 32341456.

Ikeya A^#, Nakashima M^#, Yamashita M, Kakizawa K, Okawa Y, Saitsu H, Sasaki S, Sasano H, Suda T, Oki Y. CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant. PLoS One. 2020 Apr 14;15(4):e0231665. doi:10.1371/journal.pone.0231665. PMID: 32287321; PMCID: PMC7156056.

Miura S, Kosaka K, Shimojo T, Matsuura E, Noda K, Fujioka R, Mori SI, Umehara F, Iwaki T, Yamamoto K, Saitsu H, Shibata H. Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough. J Hum Genet. 2020 Sep;65(9):717-725. doi: 10.1038/s10038-020-0761-7.

Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y. Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Am J Med Genet A. 2020 Jun;182(6):1500-1505. doi:10.1002/ajmg.a.61575. Epub 2020 Mar 27. PMID: 32220057.

Ozaki A, Sasaki M, Hiraide T, Sumitomo N, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sato N, Nakashima M, Saitsu H. A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis. Brain Dev. 2020 Jun;42(6):462-467. doi: 10.1016/j.braindev.2020.02.008. Epub 2020 Mar 12. PMID: 32173090.

Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):549-558. doi: 10.1016/j.ajhg.2020.02.011. Epub 2020 Mar 12. PMID:32169168; PMCID: PMC7118575.

Hiraide T, Watanabe S, Matsubayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H. A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Mol Genet Genomic Med. 2020 Mar;8(3):e1145. doi: 10.1002/mgg3.1145. Epub 2020 Jan 17. PMID: 31953910; PMCID: PMC7057084.

Hiraide T, Kubota K, Kono Y, Watanabe S, Matsubayashi T, Nakashima M, Kaname T, Fukao T, Shimozawa N, Ogata T, Saitsu H. POLR3A variants in striatal involvement without diffuse hypomyelination. Brain Dev. 2020 Apr;42(4):363-368. doi: 10.1016/j.braindev.2019.12.012. Epub 2020 Jan 10. PMID: 31932101.

Miyamoto S, Aoto K, Hiraide T, Nakashima M, Takabayashi S, Saitsu H*. Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line. Congenit Anom (Kyoto). 2020 Jul;60(4):120-125. doi: 10.1111/cga.12364. Epub 2019 Dec 25. PMID: 31837184.

Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020 Apr;63(4):103804. doi: 10.1016/j.ejmg.2019.103804. Epub 2019 Nov 4. PMID: 31698099.

Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet. 2020 Jan;65(2):181-186. doi: 10.1038/s10038-019-0690-5. Epub 2019 Oct 23. PMID: 31645653.

Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. PMID: 31544945.

(2019)

Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019 Nov 4;11(1):156. doi:10.1186/s13148-019-0749-3. PubMed PMID: 31685013; PubMed Central PMCID: PMC6830011.

Nakashima M, Ogata K, Saitsu H, Matsumoto N. Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders". Ann Neurol. 2019 Nov;86(5):805-806. doi: 10.1002/ana.25599. Epub 2019 Oct 4. PubMed PMID: 31509620.

Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia Open. 2019 May 24;4(3):476-481. doi: 10.1002/epi4.12339. PMID: 31440728; PMCID: PMC6698685.

Hiraide T, Kaba Yasui H, Kato M, Nakashima M*, Saitsu H. A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. J Hum Genet. 2019 Aug 16. doi:10.1038/s10038-019-0656-7.

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T. De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation. J Hum Genet. 2019 Aug 6. doi: 10.1038/s10038-019-0650-0.

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). Eur J Hum Genet. 2019 Jul 22. doi: 10.1038/s41431-019-0473-7.

Shiohama T, Nakashima M, Ikehara H, Kato M, Saitsu H. Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination. Congenit Anom (Kyoto). 2019 Jul 21. doi: 10.1111/cga.12351. [Epub ahead of print] PubMed PMID: 31328296.

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 2019 Jul 16;93(3):e237-e251. doi: 10.1212/WNL.0000000000007774.

Takata A#, Nakashima M#, Saitsu H#, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T. Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. J Am Soc Nephrol. 2019 May;30(5):877-889. doi: 10.1681/ASN.2018121268.

Hiraide T*, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H. Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. Brain Dev. 2019 May;41(5):474-479. doi: 10.1016/j.braindev.2019.01.005.

Takashima S, Saitsu H, Shimozawa N. Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. J Hum Genet. 2019 Feb;64(2):145-152. doi: 10.1038/s10038-018-0512-1. Epub 2018 Sep 20. Review.

Nakashima M#*, Negishi Y#, Hori I, Hattori A, Saitoh S, Saitsu H. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056.

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z

(2018)

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30.

Hamada N#, Ogaya S#, Nakashima M#, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N. GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454.

Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Brain Dev. 2018 40(9) 819-823

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Seizure. 2018 Aug;60:91-93

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Sci Rep. 2018 May 29;8(1):8279.

Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F. Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel. Clin Genet. 2018 Clin Genet. 2018 Aug;94(2):232-238.

Belal H#, Nakashima M#, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N*, Saitsu H*. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. J Hum Genet. 2018 Sep 27. doi: 10.1038/s10038-018-0516-x. [Epub ahead of print]

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N. Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Ann Neurol. 2018 May 8. doi: 10.1002/ana.25256.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433.

Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H*, Matsumoto N*. De Novo Hotspot Variants in CYFIP2 Cause Early-Onset Epileptic Encephalopathy. Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.

Akita T#, Aoto K#, Kato M#, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N*, Saitsu H*. De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296

Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 Jun 1;141(6):1703-1718.

Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. Hum Genet. 2018 Apr;63(4):417-423.

Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T. Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Sci Rep. 2018 Feb 2;8(1):2287.

Mutoh H#, Kato M#, Akita T#, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N*, Saitsu H*. Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. Am J Hum Genet. 2018 102, 321-329.

Hiraide T#, Nakashima M#, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N*, Saitsu H*. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet. 2018 Jan;137(1):95-104.

Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. Am J Med Genet A. 2018 Jan;176(1):139-143

Miyatake S, Koshimizu E, Shirai I, Kumada S, Nakata Y, Kamemaru A, NakashimaM, Mizuguchi T, Miyake N, Saitsu H, Matsumoto N. A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions. Mov Disord. 2018 Jan;33(1):177-179. PMID: 29165877

(2017)

Okamoto N, Tsuchiya Y, Kuki I, Yamamoto T, Saitsu H, Kitagawa D, *Matsumoto N. Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation. Mol Genet Genomic Med. 2017 Jul 12;5(5):585-591.

Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Hubshman MW, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, *Matsumoto N. Detection of copy number variations in epilepsy using exome data. Clin Genet. 2017 Sep 22. doi: 10.1111/cge.13144.

ollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, *Fisher SE. Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Hum Mutat. 2017 Jul 25. doi: 10.1002/humu.23303.

Kohashi K, *Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. Brain Dev. 2017 Jul 17. pii: S0387-7604(17)30174-2. doi:10.1016/j.braindev.2017.06.005.

Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, *Matsumoto N. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. J Hum Genet. 2017 Jul 20. doi: 10.1038/jhg.2017.77.

Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, *Yamagata T. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. Brain Dev. 2017 Jul 4. pii: S0387-7604(17)30173-0. doi: 10.1016/j.braindev.2017.06.004.

Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, *Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8

Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, *Matsumoto N, *Chiyonobu T. Identification of novel BCL11A variants in patients with epileptic encephalopathy: expanding the phenotypic spectrum. Clin Genet. 2017 Jun 6. doi: 10.1111/cge.13067.

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, *Matsumoto N. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. Clin Genet. 2017 May 30. doi: 10.1111/cge.13061.

*Okubo Y, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K. A patient with Muenke syndrome manifesting migrating neonatal seizures. Brain Dev. 2017 May 24. pii: S0387-7604(17)30147-X. doi: 10.1016/j.braindev.2017.05.007.

Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, *Ogata T. De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly. Hum Mutat. 2017 Aug;38(8):953-958. doi: 10.1002/humu.23253.

*Hatano T, Daida K, Hoshino Y, Li Y, Saitsu H, Matsumoto N, Hattori N. Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation. Parkinsonism Relat Disord. 2017 Jul;40:80-82. doi: 10.1016/j.parkreldis.2017.04.009.

*Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. J Neurol Sci. 2017 May 15;376:7-12.

Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, *Matsumoto N. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet. 2017 Aug;62(8):741-746. doi: 10.1038/jhg.2017.24.

Zaha K, *Matsumoto H, *Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M,Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S. DNM1L-related encephalopathy in infancy with Leighsyndrome-like phenotype and suppression-burst. Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805.

Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, *Matsumoto N. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet. 2017 Jan 5;100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017.

Amin MB, Miura N, Uddin MK, Islam MJ, Yoshida N, Iseki S, Kume T, Trainor P, Saitsu H, *Aoto K. Foxc2^CreERT2 knock-in mice mark stage-specific Foxc2-expressing cells during mouse organogenesis. Congenit Anom (Kyoto). 2017 Jan;57(1):24-31. doi: 10.1111/cga.12198.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, *Matsumoto N. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet. 2017 Jan 12. doi: 10.1038/jhg.2016.163.

Abe Y, Matsuduka A, Okanari K, Miyahara H, Kato M, Miyatake S, Saitsu H, Matsumoto N, Tomoki M, *Ihara K. A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. Eur J Med Genet. 2017 Mar;60(3):169-171. doi: 10.1016/j.ejmg.2016.12.008.

*Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. J Hum Genet. 2017 Jun;62(6):653-655. doi: 10.1038/jhg.2017.11.

Fox J, Ben-Shachar S, Uliel S, Svirsky R, Saitsu H, Matsumoto N, *Fattal-Valevski A. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. Am J Med Genet A. 2017 Mar;173(3):744-748. doi: 10.1002/ajmg.a.38027.

Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762.

*Saitsu H. Folate receptors and neural tube closure. Folate receptors and neural tube closure. Congenit Anom (Kyoto). 2017 Sep;57(5):130-133. doi: 10.1111/cga.12218.

Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, *Matsumoto N. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat. 2017 Feb 22. doi: 10.1002/humu.23200.

Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, *Matsumoto N. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Clin Genet. 2017 Feb 8. doi: 10.1111/cge.12991.

*Kobayashi Y, Tohyama J, Akiyama T, Magara S, Kawashima H, Akasaka N, Nakashima M, Saitsu H, Matsumoto N. Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency. Brain Dev. 2017 Mar;39(3):266-270. doi: 10.1016/j.braindev.2016.09.011.

Kimizu T, Takahashi Y, Oboshi T, Horino A, Koike T, Yoshitomi S, Mori T, Yamaguchi T, Ikeda H, Okamoto N, Nakashima M, Saitsu H, Kato M, Matsumoto N, Imai K. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Brain Dev. 2017 Mar;39(3):256-260. doi: 10.1016/j.braindev.2016.09.009.

*Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T. The first report of Japanese patients with asparagine synthetase deficiency. Brain Dev.　2017 Mar;39(3):236-242. doi: 10.1016/j.braindev.2016.09.010.

(2016)

1. Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, *Matsumoto N. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. Am J Hum Genet. 2016 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005.

2. Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, *Fukuda A, *Matsumoto N. Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. Sci Rep. 2016 Jul 20;6:30072. doi: 10.1038/srep30072.

3. Wu YX, Yang JH, Saitsu H. Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance. Oncotarget. 2016 Nov 22;7(47):77622-77634.

4. Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, *Matsumoto N. WDR45 mutations in three male patients with West syndrome. J Hum Genet. 2016 Jul;61(7):653-61.

4. Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, *Murakami Y. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007.

5. Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012.

6. Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S. FDG-PET study of patients with Leigh syndrome. J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008.

7. Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, *Saitsu H, *Matsumoto N. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344.

8. Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338.

9. *Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N. Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. Ann Clin Transl Neurol. 2016 Mar 24;3(5):356-65. doi: 10.1002/acn3.300.

10. Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016 Feb 25. doi: 10.1038/jhg.2016.12.

11. Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. J Hum Genet. 2016 Feb 18. doi: 10.1038/jhg.2016.9.

12. Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):304-7. doi: 10.1002/bdra.23488.

13. Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. J Hum Genet. 2016 Jan 28. doi: 10.1038/jhg.2016.1.

14. Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M. Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutieres Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. J Invest Dermatol. 2016 Apr;136(4):875-8. doi: 10.1016/j.jid.2015.12.034.

15. Mori T, Imai K, Oboshi T, Fujiwara Y, Takeshita S, Saitsu H, Matsumoto N, Takahashi Y, Inoue Y. Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy. Brain Dev. 2016 Jun;38(6):601-4. doi: 10.1016/j.braindev.2015.12.012.

16. Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. J Hum Genet. 2016 Jan 14. doi: 10.1038/jhg.2015.163.

17. Chong PF, Nakamura R, Saitsu H, Matsumoto N, Kira R. Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation. Ann Neurol. 2016 Mar;79(3):502-3. doi: 10.1002/ana.24598.

18. Inui T, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain Dev. 2016 May;38(5):520-4. doi: 10.1016/j.braindev.2015.11.003.

19. Nakashima M, Kouga T, Lourenco CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia. 2016 Jan;57(1):e18-23. doi: 10.1111/epi.13257.

Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. A genome-wide DNA methylation signature for SETD1B-related syndrome. Clin Epigenetics. 2019 Nov 4;11(1):156. doi:10.1186/s13148-019-0749-3. PubMed PMID: 31685013; PubMed Central PMCID: PMC6830011.