[1]. A novel heterozygous GCH1 gene variant in a family with dopa-responsive dystonia: a case report
Brain and Development Case Reports Elsevier BV [巻]4 [号]2 [頁]100138 -100138 （2026年） [査読] 有
[DOI] [2]. Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.
Journal of human genetics （2026年） [査読] 有
[DOI] [3]. Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.
Seizure [巻]131 [頁]340 -343 （2025年） [査読] 有
[4]. Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Severe Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 Variant.
Acta medica Okayama [巻]79 [号]4 [頁]293 -297 （2025年） [査読] 有
[5]. An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.
Brain & development [巻]47 [号]5 [頁]104405 （2025年） [査読] 有
[6]. 全般性発達遅滞,特徴的顔貌,心室中隔欠損症を呈した9pトリソミーの1例
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]5 [号]1 [頁]30 -30-36 （2025年） [査読] 有
[7]. Vitamin A Deficiency in Children With Autism Spectrum Disorder.
Cureus [巻]17 [号]1 [頁]e77129 （2025年） [査読] 有
[8]. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Scientific reports [巻]14 [号]1 [頁]24746 （2024年） [査読] 有
[9]. GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement
Brain and Development Case Reports Elsevier BV [巻]2 [号]3 [頁]100034 -100034 （2024年） [査読] 有
[DOI] [10]. Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1
Brain and Development Case Reports Elsevier BV [巻]2 [号]3 [頁]100025 -100025 （2024年） [査読] 有
[DOI] [11]. 前頭洞炎の頭蓋内・頭蓋骨外進展 Pott's puffy tumorと硬膜下膿瘍を発症した2症例の報告
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]4 [号]1 [頁]28 -28-36 （2024年） [査読] 有
[12]. 髄膜炎脳炎マルチプレックスPCRが診断に有用であったヒトパレコウイルス3型による急性脳症の新生児例
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]4 [号]1 [頁]21 -21-27 （2024年） [査読] 有
[13]. 前頭洞炎の頭蓋内・頭蓋骨外進展 Pott's puffy tumorと硬膜下膿瘍を発症した2症例の報告
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]4 [号]1 [頁]28 -36 （2024年） [査読] 有
[14]. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
JOURNAL OF HUMAN GENETICS [巻]69 [号]2 [頁]91 -99 （2024年） [査読] 有
[DOI] [15]. Case Report: Novel compound heterozygous variants cause Galloway-Mowat syndrome.
Frontiers in pediatrics [巻]12 [頁]1360867 （2024年） [査読] 有
[DOI] [16]. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Journal of human genetics （2023年） [査読] 有
[DOI] [17]. c.116G>A,p.(Arg39His)ホモ接合性バリアントが同定された一過性眼振を伴う遊離シアル酸蓄積症の姉弟例
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]3 [号]1 [頁]36 -44 （2023年） [査読] 有
[機関リポジトリ][18]. A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
Journal of human genetics [巻]68 [号]1 [頁]25 -31 （2022年） [査読] 有
[DOI] [19]. CACNA1Sにミスセンス変異を認めた低カリウム性周期性四肢麻痺の1家系例
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]2 [号]1 [頁]30 -36 （2022年） [査読] 有
[機関リポジトリ][20]. 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） [査読] 有
[DOI] [21]. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Brain & development [巻]44 [号]2 [頁]161 -165 （2022年） [査読] 有
[DOI] [22]. 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） [査読] 有
[DOI] [23]. 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） [査読] 有
[DOI] [24]. 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） [査読] 有
[DOI] [25]. 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） [査読] 有
[DOI] [26]. HECW2-related disorder in four Japanese patients.
American journal of medical genetics. Part A [巻]185 [号]10 [頁]2895 -2902 （2021年） [査読] 有
[DOI] [27]. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain & development [巻]43 [号]9 [頁]945 -951 （2021年） [査読] 有
[DOI] [28]. 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） [査読] 有
[DOI] [29]. 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） [査読] 有
[DOI] [30]. 小児期発症の不全型Susac症候群の1例
浜松医科大学小児科学雑誌 浜松医科大学小児科学雑誌編集部 [巻]1 [号]1 [頁]30 -35 （2021年） [査読] 有
[機関リポジトリ][31]. 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） [査読] 有
[DOI] [32]. A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.
Brain & development [巻]42 [号]8 [頁]603 -606 （2020年） [査読] 有
[DOI] [33]. 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] [34]. 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] [35]. 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 [頁]103804 -103804 （2020年） [査読] 有
[DOI] [36]. POLR3A variants in striatal involvement without diffuse hypomyelination.
Brain & development [巻]42 [号]4 [頁]363 -368 （2020年） [査読] 有
[DOI] [37]. A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Molecular genetics & genomic medicine [巻]8 [号]3 [頁]e1145 （2020年） [査読] 有
[DOI] [38]. 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] [39]. De novo variants in SETD1B 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] [40]. 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] [41]. Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.
Brain & development [巻]41 [号]5 [頁]474 -479 （2019年） [査読] 有
[DOI] [42]. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
Journal of human genetics [巻]64 [号]4 [頁]313 -322 （2019年） [査読] 有
[DOI] [43]. Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId.
Frontiers in neurology [巻]10 [頁]1233 -1233 （2019年） [査読] 有
[DOI] [44]. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Human genetics [巻]137 [号]1 [頁]95 -104 （2018年） [査読] 有
[DOI] [45]. Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.
Pediatric neurology [巻]62 [頁]51 -7 （2016年） [査読] 有
[DOI] [46]. De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Journal of human genetics [巻]60 [号]12 [頁]739 -42 （2015年） [査読] 有
[DOI] [47]. 血管攣縮と血流低下が病態に関与し再燃した小児白血病に発症したposterior reversible encephalopathy syndromeの1例
No to hattatsu = Brain and development [巻]47 [号]6 [頁]449 -53 （2015年） [査読] 有
[48]. 小児期発症の神経サルコイドーシスが疑われる2例
日本小児科学会雑誌 (公社)日本小児科学会 [巻]119 [号]7 [頁]1095 -1101 （2015年） [査読] 有
[49]. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Journal of neurology [巻]262 [号]5 [頁]1278 -84 （2015年） [査読] 有
[DOI]