[1]. Diagnostic MR imaging features of hypomyelination of early myelinating structures: A case report
The Neuroradiology Journal （2024年） [査読] 有
[2]. A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.
Brain & development [巻]44 [号]7 [頁]474 -479 （2022年）
[DOI] [3]. ACAN biallelic variants in a girl with severe idiopathic short stature.
Journal of human genetics [巻]67 [号]8 [頁]481 -486 （2022年）
[DOI] [4]. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
Journal of human genetics [巻]67 [号]7 [頁]387 -392 （2022年）
[DOI] [5]. Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy.
Brain & development [巻]44 [号]6 [頁]415 -420 （2022年）
[DOI] [6]. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Journal of human genetics [巻]67 [号]5 [頁]303 -306 （2022年）
[DOI] [機関リポジトリ][7]. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
American journal of medical genetics. Part A [巻]188 [号]5 [頁]1612 -1617 （2022年）
[DOI] [8]. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Genome medicine [巻]14 [号]1 [頁]40 -40 （2022年）
[DOI] [9]. An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
Neurogenetics [巻]23 [号]2 [頁]129 -135 （2022年）
[DOI] [10]. Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ.
Journal of neuroscience research [巻]100 [号]3 [頁]880 -896 （2022年）
[DOI] [11]. Two novel heterozygous variants in ATP1A3 cause movement disorders.
Human genome variation [巻]9 [号]1 [頁]7 -7 （2022年）
[DOI] [12]. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: -Congenital Disorders of Glycosylation and -Related Retinitis Pigmentosa.
Genes [巻]13 [号]2 （2022年） [査読] 有
[DOI] [13]. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Brain & development [巻]44 [号]2 [頁]161 -165 （2022年）
[DOI] [14]. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Brain & development [巻]44 [号]2 [頁]178 -183 （2022年）
[DOI] [15]. Retinitis pigmentosa with optic neuropathy and mutations: A case report.
American journal of ophthalmology case reports [巻]25 [頁]101298 （2022年） [査読] 有
[DOI] [16]. Leigh syndrome-like MRI changes in a patient with biallelic variants treated with ketogenic diet.
Molecular genetics and metabolism reports [巻]29 [頁]100800 （2021年） [査読] 有
[DOI] [17]. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation.
Brain & development [巻]43 [号]7 [頁]804 -808 （2021年）
[DOI] [18]. Progressive cerebral atrophies in three children with COL4A1 mutations.
Brain & development [巻]43 [号]10 [頁]1033 -1038 （2021年）
[DOI] [19]. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Human genetics [巻]140 [号]7 [頁]1109 -1120 （2021年）
[DOI] [20]. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clinical genetics [巻]100 [号]1 [頁]40 -50 （2021年）
[DOI] [機関リポジトリ][21]. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Journal of human genetics [巻]66 [号]12 [頁]1193 -1197 （2021年）
[DOI] [22]. A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
Journal of human genetics [巻]66 [号]12 [頁]1189 -1192 （2021年）
[DOI] [23]. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Journal of human genetics [巻]66 [号]12 [頁]1185 -1187 （2021年）
[DOI] [24]. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain & development [巻]43 [号]9 [頁]945 -951 （2021年）
[DOI] [25]. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Endocrine journal [巻]68 [号]5 [頁]605 -611 （2021年）
[DOI] [26]. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Clinical epigenetics [巻]13 [号]1 [頁]119 -119 （2021年）
[DOI] [27]. Cerebrovascular diseases in two patients with entire NSD1 deletion.
Human genome variation [巻]8 [号]1 [頁]20 -20 （2021年）
[DOI] [28]. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Journal of human genetics [巻]66 [号]11 [頁]1061 -1068 （2021年）
[DOI] [機関リポジトリ][29]. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H-ATPases is essential for brain development in humans and mice.
Nature communications [巻]12 [号]1 [頁]2107 （2021年） [査読] 有
[DOI] [30]. Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Clinical epigenetics [巻]13 [号]1 [頁]73 -73 （2021年）
[DOI] [31]. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Brain & development [巻]43 [号]4 [頁]505 -514 （2021年）
[DOI] [32]. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
Journal of human genetics [巻]66 [号]4 [頁]439 -443 （2021年）
[DOI] [33]. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Journal of human genetics [巻]66 [号]4 [頁]401 -407 （2021年）
[DOI] [34]. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Brain & development [巻]43 [号]3 [頁]402 -410 （2021年）
[DOI] [35]. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.
Brain & development [巻]43 [号]3 [頁]470 -474 （2021年）
[DOI] [36]. Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.
Clinical case reports [巻]9 [号]3 [頁]1711 -1715 （2021年）
[DOI] [37]. De novo ATP1A3 variants cause polymicrogyria.
Science advances [巻]7 [号]13 （2021年）
[DOI] [38]. A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
Surgery today [巻]51 [号]3 [頁]439 -446 （2021年）
[DOI] [39]. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.
Journal of human genetics [巻]66 [号]10 [頁]1021 -1027 （2021年）
[DOI] [40]. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Endocrine journal [巻]68 [号]1 [頁]111 -117 （2021年）
[DOI] [41]. Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Epilepsy & behavior reports [巻]15 [頁]100417 -100417 （2021年）
[DOI] [42]. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Human mutation [巻]42 [号]1 [頁]66 -76 （2021年）
[DOI] [43]. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [巻]34 [号]12 [頁]16601 -16621 （2020年）
[DOI] [44]. POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
Neurology Genetics [巻]6 [号]6 [頁]e524 （2020年） [査読] 有
[DOI] [45]. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
European journal of medical genetics [巻]63 [号]12 [頁]104061 -104061 （2020年）
[DOI] [46]. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
European journal of medical genetics [巻]63 [号]11 [頁]104060 -104060 （2020年）
[DOI] [機関リポジトリ][47]. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.
Scientific reports [巻]10 [号]1 [頁]17375 -17375 （2020年）
[DOI] [48]. Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
Journal of human genetics [巻]65 [号]10 [頁]921 -925 （2020年）
[DOI] [機関リポジトリ][49]. De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Journal of the neurological sciences Elsevier BV [巻]416 [頁]117047 -117047 （2020年） [査読] 有
[DOI] [50]. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.
Brain & development [巻]42 [号]8 [頁]603 -606 （2020年）
[DOI] [51]. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Journal of human genetics [巻]65 [号]9 [頁]727 -734 （2020年） [査読] 有
[DOI] [52]. Clinical and genetic characteristics of patients with Doose syndrome.
Epilepsia open [巻]5 [号]3 [頁]442 -450 （2020年） [査読] 有
[DOI] [53]. Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
Journal of human genetics [巻]65 [号]9 [頁]717 -725 （2020年）
[DOI] [54]. Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.
American journal of medical genetics. Part A [巻]182 [号]8 [頁]1933 -1938 （2020年） [査読] 有
[DOI] [55]. A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS).
Epileptic disorders : international epilepsy journal with videotape [巻]22 [号]4 [頁]476 -481 （2020年）
[DOI] [56]. Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Journal of medical genetics （2020年） [査読] 有
[DOI] [57]. Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line.
Congenital anomalies [巻]60 [号]4 [頁]120 -125 （2020年） [査読] 有
[DOI] [58]. Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
American journal of medical genetics. Part A [巻]182 [号]6 [頁]1500 -1505 （2020年） [査読] 有
[DOI] [59]. Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of disruption by whole genome sequencing.
Clinical case reports [巻]8 [号]6 [頁]1076 -1080 （2020年） [査読] 有
[DOI] [60]. A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
Brain & development [巻]42 [号]6 [頁]462 -467 （2020年） [査読] 有
[DOI] [61]. Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.
Congenital anomalies [巻]60 [号]3 [頁]94 -96 （2020年） [査読] 有
[DOI] [62]. A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
Ophthalmic genetics [巻]41 [号]2 [頁]175 -182 （2020年） [査読] 有
[DOI] [63]. POLR3A variants in striatal involvement without diffuse hypomyelination.
Brain & development [巻]42 [号]4 [頁]363 -368 （2020年） [査読] 有
[DOI] [機関リポジトリ][64]. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS [巻]106 [号]4 [頁]549 -558 （2020年） [査読] 有
[DOI] [65]. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
EUROPEAN JOURNAL OF MEDICAL GENETICS [巻]63 [号]4 （2020年） [査読] 有
[DOI] [機関リポジトリ][66]. A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
MOLECULAR GENETICS & GENOMIC MEDICINE [巻]8 [号]3 （2020年） [査読] 有
[DOI] [67]. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions
JOURNAL OF HUMAN GENETICS [巻]65 [号]2 [頁]181 -186 （2020年） [査読] 有
[DOI] [68]. CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant.
PloS one [巻]15 [号]4 [頁]e0231665 （2020年） [査読] 有
[DOI] [69]. Life-threatening muscle complications of COL4A1-related disorder
BRAIN & DEVELOPMENT [巻]42 [号]1 [頁]93 -97 （2020年） [査読] 有
[DOI] [70]. IGF2 Mutations.
The Journal of clinical endocrinology and metabolism [巻]105 [号]1 （2020年） [査読] 有
[DOI] [71]. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
European journal of human genetics : EJHG [巻]27 [号]12 [頁]1845 -1857 （2019年） [査読] 有
[DOI] [72]. Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders".
Annals of neurology [巻]86 [号]5 [頁]805 -806 （2019年） [査読] 有
[DOI] [73]. Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.
Brain & development [巻]41 [号]10 [頁]905 -909 （2019年） [査読] 有
[DOI] [74]. A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly
JOURNAL OF HUMAN GENETICS [巻]64 [号]11 [頁]1127 -1132 （2019年） [査読] 有
[DOI] [75]. De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation
JOURNAL OF HUMAN GENETICS [巻]64 [号]10 [頁]1041 -1044 （2019年） [査読] 有
[DOI] [76]. Ataxic phenotype with altered Ca3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Neurobiology of disease [巻]130 [頁]104516 （2019年） [査読] 有
[DOI] [77]. Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.
Internal medicine (Tokyo, Japan) [巻]58 [号]18 [頁]2715 -2719 （2019年） [査読] 有
[DOI] [78]. De novo variants in cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Epilepsia open [巻]4 [号]3 [頁]476 -481 （2019年） [査読] 有
[DOI] [79]. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Molecular genetics & genomic medicine [巻]7 [号]8 [頁]e814 （2019年） [査読] 有
[DOI] [80]. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
Neurology [巻]93 [号]3 [頁]e237-e251 -e251 （2019年） [査読] 有
[DOI] [81]. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Human molecular genetics [巻]28 [号]14 [頁]2319 -2329 （2019年） [査読] 有
[DOI] [82]. Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
MOLECULAR GENETICS & GENOMIC MEDICINE [巻]7 [号]7 （2019年） [査読] 有
[DOI] [83]. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
NATURE COMMUNICATIONS [巻]10 （2019年） [査読] 有
[DOI] [84]. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
JOURNAL OF MEDICAL GENETICS [巻]56 [号]6 [頁]396 -407 （2019年） [査読] 有
[DOI] [85]. Germline-Derived Gain-of-Function Variants of Gs-Coding Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
Journal of the American Society of Nephrology : JASN [巻]30 [号]5 [頁]877 -889 （2019年） [査読] 有
[DOI] [86]. Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.
Epileptic disorders : international epilepsy journal with videotape [巻]21 [号]1 [頁]48 -54 （2019年） [査読] 有
[DOI] [87]. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
Epilepsia open [巻]3 [号]4 [頁]495 -502 （2018年） [査読] 有
[DOI] [88]. GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.
Clinical case reports [巻]6 [号]11 [頁]2229 -2233 （2018年） [査読] 有
[DOI] [89]. Array
Annals of clinical and translational neurology [巻]5 [号]3 [頁]280 -296 （2018年）
[DOI] [90]. Novel Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.
Child neurology open [巻]8 [頁]2329048X211048613
[DOI]