Faculty Information - YAMAMOTO Toshiyuki

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（Last updated : 2025-10-16 10:34:22）

YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Professor

■ Books

Chapter contribution　

Chapter 24: Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design, Cerebral Cortex Development-Methods and Protocols 2024/04/01

■ Published papers

1.	Original article	miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models 2025/10/15
2.	Original article	Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing 2025/09/10
3.	Original article	Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay 2025/08/15
4.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
5.	Original article	Unique DUP-TRP/INV-DUP structure detected by long-read sequencing 2025/03/12
6.	Original article	Blepharophimosis with Intellectual Disability (BIS) and Helsmoortel-Van Der Aa Syndrome (HVDAS) share episignature and phenotype 2024/12
7.	Original article	An adult female case with Fabry disease reffered to the genetic counseling who was happen to have Mulberry cells by routine health checkup. 2024/10/31
8.	Original article	Glass syndrome derived from chromosomal breakage downstream region of SATB2 2024/10/01
9.	Case report	Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX 2024/08/16
10.	Original article	Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia and seizures 2024/08/09
11.	Case report	Clonal hematopoiesis without malignant transformation lasting over 2 years in a 9-year-old boy, following treatment for acute lymphocytic leukemia 2024/08/01
12.	Case report	Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: a case series 2024/07/23
13.	Original article	VEGFA locus amplification potentially predicts a favorable prognosis in gastric adenocarcinoma 2024/07/01
14.	Original article	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
15.	Case report	Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait 2024/05/15
16.	Original article	Identification of PTGIS rare variants in patients with Williams syndrome and severe peripheral pulmonary stenosis 2024/03/01
17.	Original article	Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions 2024/02/03
18.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
19.	Original article	Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2024/01
20.	Case report	Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features 2023/08/07
21.	Original article	Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/01
22.	Original article	Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns 2023/06/10
23.	Case report	Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C 2023/06
24.	Case report	A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. 2023/04/22
25.	Original article	Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis 2023/03/02
26.	Original article	Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow‑up of Children, and Embryo Ranking 2023/03
27.	Original article	Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features 2023/02
28.	Original article	Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements 2023/01
29.	Original article	Beta-tricalcium phosphate as a possible adjuvant in γδ Tcell-based immune therapy for human disorders 2022/12/20
30.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
31.	Case report	Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus 2022/10/22
32.	Original article	Genotype-phenotype correlation in six patients with interstitial deletions spanning 13q31 2022/09
33.	Original article	Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/09
34.	Original article	Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants 2022/09
35.	Case report	Non-invasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period 2022/08
36.	Case report	Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity 2022/07/20
37.	Original article	Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature 2022/06/01
38.	Original article	A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1 2022/04/21
39.	Case report	A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability, and diabetes mellitus; a case report 2022/02
40.	Original article	Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis 2022/01/12
41.	Case report	Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures 2021/11/29
42.	Original article	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet 2021/10/08
43.	Case report	Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 2021/10
44.	Original article	Clinical spectrum of individuals with de novo EBF3 variants or deletions 2021/10
45.	Original article	HECW2-related disorder in four Japanese patients 2021/10
46.	Review article	Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders 2021/09/04
47.	Case report	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants successfully treated with ketogenic diet 2021/09/04
48.	Original article	Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons 2021/06/26
49.	Case report	Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease 2021/04/01
50.	Case report	A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting 2021/03/18
51.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
52.	Original article	iPSCs established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation 2021/03
53.	Case report	MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene 2021/03
54.	Case report	Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 2021/03
55.	Original article	Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
56.	Original article	Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome 2020/12
57.	Original article	Pyridoxal may be a better indicator of vitamin B6 dependent epilepsy than pyridoxal 5-phosphate 2020/12
58.	Case report	Coffin–Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. 2020/11
59.	Original article	De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 2020/11
60.	Original article	Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations 2020/11
61.	Review article	Application of Induced Pluripotent Stem Cells in Epilepsy 2020/10
62.	Original article	Analyses of breakpoint-junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing 2020/09
63.	Original article	Molecular Profiles of Breast Cancer in a Single Institution 2020/08
64.	Original article	The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications 2020/05/22
65.	Case report	Identification of homozygous somatic DICER1 mutation in pleuropulmonary blastoma 2020/05
66.	Case report	Novel LAMA2 variants identified in a patient with white matter abnormality 2020/05
67.	Case report	A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. 2020/04/13
68.	Case report	Gitelman syndrome caused by a novel hemi-allelic missense mutation of SLC12A3 unveiled by 16q12.2q21 microdeletion 2020/03
69.	Original article	Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract 2020/01
70.	Original article	Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction 2020/01
71.	Case report	Two different MLC1 variants compounded with a common variant S93L in Japanese patients of megalencephalic leukoencephalopathy with subcortical cysts 2020
72.	Original article	Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure 2019/12
73.	Case report	A de novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome 2019/11
74.	Case report	Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation 2019/11
75.	Original article	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders 2019/10
76.	Case report	Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion 2019/10
77.	Original article	PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia 2019/10
78.	Case report	Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
79.	Original article	Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities 2019/09
80.	Original article	Advantages of ddPCR in detection of PLP1 duplications 2019/08
81.	Original article	Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single nucleotide deletion in PLP1 2019/07
82.	Case report	A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination 2019/06
83.	Case report	Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan 2019/05
84.	Case report	PRRT2 mutation in a sporadic case of paroxysmal kinesigenic dyskinesia 2019/04
85.	Original article	Three Japanese patients with 3p13 microdeletions involving FOXP1 2019/03
86.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
87.	Original article	Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder 2018/12
88.	Case report	Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12
89.	Case report	An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU 2018/09
90.	Case report	Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2 2018/09
91.	Case report	Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism 2018/07
92.	Case report	Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia 2018/07
93.	Case report	Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome 2018/07
94.	Case report	A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer 2018/06
95.	Case report	Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA 2018/03
96.	Original article	Somatic mosaic deletions involving SCN1A cause Dravet syndrome. 2018/03
97.	Case report	A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. 2018/01
98.	Original article	Evaluation of the relationship between the serum immunoglobulin G2 level and repeated infectious diseases in children 2018/01
99.	Original article	A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer. 2018
100.	Original article	Familial 9q33q34 microduplication in siblings with developmental disorders and acrocephaly. 2017/12
101.	Case report	A girl with the smallest de novo microdeletion of 20q11.2; intellectual disability and dysmorphic features 2017/11
102.	Original article	Characteristics of rare and private deletions identified in phenotypically normal individuals. 2017/09
103.	Case report	Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation 2017/09
104.	Case report	A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly 2017/08
105.	Case report	A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence 2017/08
106.	Case report	A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder 2017/07
107.	Case report	Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient. 2017/07
108.	Case report	A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
109.	Case report	Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation 2017/04
110.	Case report	An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. 2017/04
111.	Original article	Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts 2017/03/30
112.	Original article	MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 2017/03
113.	Original article	The ARHGEF9 Disease: Phenotype Clarification and Genotype-Phenotype Correlation. 2017/03
114.	Case report	A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism. 2017/02
115.	Case report	Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. 2017/02
116.	Case report	Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 2017/02
117.	Case report	Neurological manifestations of 2q31 microdeletion syndrome. 2017/02
118.	Case report	A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation 2017
119.	Original article	Mutations in NSD1 and NFIX in three patients with clinical features of Sotos syndrome and Malan syndrome 2017
120.	Case report	Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis. 2016/10
121.	Original article	The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. 2016/10
122.	Case report	Migrating partial seizures in 4p- syndrome successfully treated by bromide. 2016/08
123.	Original article	Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. 2016/08
124.	Case report	A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 2016/06
125.	Original article	A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 2016/06
126.	Original article	The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients 2016/06
127.	Case report	Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. 2016/05
128.	Case report	A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. 2016/04
129.	Original article	Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome. 2016/04
130.	Case report	Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1. 2016/03
131.	Case report	A de novo microdeletion in a patient with inner ear abnormalities suggests the existence of the responsible gene in 10q26.13. 2016
132.	Case report	Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. 2016
133.	Original article	Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 2016
134.	Case report	Epilepsy phenotypes in siblings with Norrie disease. 2015/11
135.	Original article	Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 2015/11
136.	Original article	CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. 2015/10
137.	Case report	Novel compound heterozygous LIAS mutations cause glycine encephalopathy. 2015/10
138.	Original article	Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. 2015/10
139.	Original article	Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations 2015/09
140.	Review article	Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients. 2015/08
141.	Original article	Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. 2015/08
142.	Original article	Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. 2015/05
143.	Original article	Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease. 2015/03
144.	Original article	Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. 2015/03
145.	Review article	16p11.2 microdeletion/microduplication syndrome and benign infantile epilepsy. 2015/01
146.	Review article	[Editorial] Epilepsy in Numerical Chromosomal Abnormalities. 2015/01
147.	Review article	Epilepsies in children with 2q24.3 deletion/duplication. 2015/01
148.	Original article	Epilepsy and other symptoms associated with chromosome 9q34.11 microdeletion. 2015/01
149.	Review article	Epilepsy in 1p36 deletion syndrome is not associated with deletion size. 2015/01
150.	Case report	Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome. 2015/01
151.	Original article	Xq28 duplications and epilepsy: Influence of the combinatory duplication of MECP2 and GDI1. 2015/01
152.	Case report	A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. 2015
153.	Case report	A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. 2015
154.	Case report	A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 2015
155.	Case report	A novel MED12 mutation associated with non-specific X-linked intellectual disability. 2015
156.	Case report	A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. 2015
157.	Original article	An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. 2015
158.	Original article	Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. 2015
159.	Original article	Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations. 2015
160.	Other	Comment on "Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature" by Azzolini S et al. 2015
161.	Case report	Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. 2015
162.	Case report	Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 2015
163.	Case report	Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. 2015
164.	Original article	Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. 2015
165.	Original article	Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
166.	Original article	Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
167.	Original article	Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 2015
168.	Case report	White matter abnormalities in an adult patient with L-2-hydroxyglutaric aciduria. 2015
169.	Original article	Growth patterns of patients with 1p36 deletion syndrome. 2014/05
170.	Original article	An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia, and behavioral abnormalities 2014/01
171.	Original article	3p interstitial deletion including PRICKLE2 in identical twins with autistic features. 2014
172.	Original article	A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 2014
173.	Original article	Bilateral periventricular nodular heterotopia with megalencephaly: a case report. 2014
174.	Original article	Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. 2014
175.	Original article	Clinical impacts of genomic copy number gains at Xq28. 2014
176.	Original article	Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. 2014
177.	Original article	Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. 2014
178.	Original article	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 2014
179.	Original article	Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. 2014
180.	Original article	Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. 2014
181.	Original article	Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 2014
182.	Original article	Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. 2014
183.	Original article	Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. 2014
184.	Original article	SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. 2014
185.	Original article	Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. 2014
186.	Original article	A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 2013/07
187.	Original article	MECP2 duplication syndrome in both genders. 2013/05
188.	Original article	A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
189.	Case report	De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. 2013/03
190.	Original article	Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 2013/03
191.	Original article	101 kb deletion of chromosome 4p16.3 limited to WHSCR2 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. 2013
192.	Original article	A case of atypical benign partial epilepsy with action myoclonus. 2013
193.	Original article	A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013
194.	Original article	A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism. 2013
195.	Original article	A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 2013
196.	Original article	Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. 2013
197.	Original article	Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. 2013
198.	Original article	Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. 2013
199.	Original article	Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 2013
200.	Original article	Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. 2013
201.	Original article	Microdeletions of 5.5Mb (4q13.2-q13.3) and 4.1Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. 2013
202.	Original article	PRRT2 mutation in Japanese children with benign infantile epilepsy. 2013
203.	Original article	Whole-exome sequence for a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasia. 2013
204.	Original article	An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease 2012/09
205.	Original article	De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. 2012/09
206.	Original article	Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. 2012/09
207.	Original article	Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. 2012/09
208.	Original article	Whole gene deletion mutation of HNF1B and exonic aberration mutations of GCK and HNF1B in patients with MODY in Japan 2012/09
209.	Original article	Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. 2012/06
210.	Original article	Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). 2012/06
211.	Original article	8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. 2012/05
212.	Original article	Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 2012/03
213.	Case report	Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. 2012/03
214.	Case report	Jacobsen Syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. 2012/01
215.	Original article	Growth profiles of 34 patients with Wolf-Hirschhorn Syndrome. 2012
216.	Original article	Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay. 2011/12
217.	Original article	Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. 2011/11
218.	Original article	CDKL5 alterations lead to early epileptic encephalopathy in both genders. 2011/10
219.	Case report	West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. 2011/10
220.	Case report	Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. 2011/09
221.	Original article	Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 2011/08
222.	Original article	Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extra axial space. 2011/08
223.	Original article	SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis. 2011/08
224.	Original article	Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. 2011/07
225.	Original article	Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. 2011/07
226.	Case report	9q22 Deletion--first familial case. 2011/06
227.	Original article	A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. 2011/04
228.	Case report	Spondylometaphyseal dysplasia with cone-rod dystrophy. 2011/04
229.	Case report	Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB 2011
230.	Original article	Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 2011
231.	Original article	STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study. 2010/12
232.	Case report	Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale. 2010/12
233.	Case report	A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. 2010/11
234.	Original article	Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia. 2010/10
235.	Case report	Co-occurrence of Prader-Willi and Sotos syndromes. 2010/08
236.	Original article	Genomic copy number variations at 17p13.3 and epileptogenesis. 2010/05
237.	Original article	Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. 2010/05
238.	Case report	Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3. including ITGB6. 2010/04
239.	Original article	zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. 2010/04
240.	Original article	A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. 2010/03
241.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. 2010/03
242.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2010
243.	Original article	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay 2009/12
244.	Original article	A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay 2009
245.	Original article	A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including Rubinstein-Taybi region but no relation with psychiatric traits 2009
246.	Original article	A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae 2009
247.	Original article	A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features: a new patient with 3.2-Mb deletion 2009
248.	Original article	Clinical features of microdeletion 9q22.3 (pat) 2009
249.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2009
250.	Original article	Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH 2009
251.	Original article	Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2) 2009
252.	Original article	Serum levels of CA15-3, KL-6 and BCA225 are positively correlated with each other in general population 2009
253.	Original article	Variations in Clinical Findings of Patients with Identical Tuberous Sclerosis Gene Mutations 2009
254.	Original article	Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome 2009
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■ Academic conference presentation

1.	A nation-wide survey on attitudes of obstetricians toward comprehensive prenatal genetic testing in Japan （ポスター掲示，一般） 2025/10/14
2.	Case of extra marker chromosome 15 missed at unlicensed NIPT facility （ポスター掲示，一般） 2025/06/06
3.	A boy with a novel variant in the ANO3 gene with developmental regression and ataxia （ポスター掲示，一般） 2025/06/05
4.	Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts （口頭，一般） 2025/06/05
5.	Mechanism of megacephalic leukoencephalopathy with subcortical cysts(MLC) using genome editing technology （ポスター掲示，一般） 2025/06/05
6.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （ポスター掲示，一般） 2024/10/12
7.	Current status of prenatal genetic testing in Japan 2023 （ポスター掲示，一般） 2024/10/12
8.	Identification of PTGIS variants in patients with Williams syndrome and severe peripheral pulmonary stenosis （口頭，一般） 2024/10/12
9.	A case of fetal-onset atypical teratoid/rhabdoid tumor with a heterozygous germline SMARCB1 loss-of-funstion alteration （ポスター掲示，一般） 2024/10/11
10.	A case report of a severe phenotype of Genitopatellar syndrome with necrotizing enterocilitis （ポスター掲示，一般） 2024/10/11
11.	Current status of genetic counseling for MODY in our hospital （ポスター掲示，一般） 2024/10/11
12.	Pathogenic mechanism of megalencephalic leukoencephalopathy with subcortical cysts by use of genome editing （ポスター掲示，一般） 2024/10/11
13.	Reciprocal chromosomal insertion caused by unexpected complex structual abnormalities （ポスター掲示，一般） 2024/10/11
14.	Uniparental maternal tetrasomy X co-occurrence with paternal non-disjunction: Investigation of the origin of 48,XXXX （ポスター掲示，一般） 2024/10/11
15.	A diagnostic Process for a 4-Year-Old Boy with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome （ポスター掲示，一般） 2024/10/10
16.	A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder （ポスター掲示，一般） 2024/10/10
17.	Glass syndrome derived from chromosomal breakage downstream region of SATB2 （ポスター掲示，一般） 2024/10/10
18.	Report on pregnancy outcomes of “B” embryos in PGT-A/SR （ポスター掲示，一般） 2024/10/10
19.	Structural analysis for DUP-TRP/INV-DUP in a patient with PLP1 triplication （ポスター掲示，一般） 2024/05/30
20.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （ポスター掲示，一般） 2023/10/14
21.	Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy （ポスター掲示，一般） 2023/10/14
22.	Type 2 congenital generalized lipodystrophy by NOTCH2 variant （ポスター掲示，一般） 2023/10/14
23.	A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan syndrome （ポスター掲示，一般） 2023/10/13
24.	A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy （ポスター掲示，一般） 2023/10/13
25.	PGT-SR using aCGH and FISH analysis for detecting unbalanced chromosome segments involving less than 5Mb: A Case Report （ポスター掲示，一般） 2023/10/13
26.	Potocki-Lupski Syndrome Family Association Support （ポスター掲示，一般） 2023/05/26
27.	Two cases of microdeletion of 3p14 containing MAGl1 （ポスター掲示，一般） 2023/05/26
28.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation （口頭，一般） 2022/12/17
29.	Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants （ポスター掲示，一般） 2022/12/16
30.	14q13 microdeletion containing NKX2-1 is associated with intellectual disability: Report of three cases （ポスター掲示，一般） 2022/12/15
31.	Construction of CNV check site （ポスター掲示，一般） 2022/12/15
32.	Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome. （口頭，一般） 2022/10/07
33.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss （ポスター掲示，一般） 2022/06/04
34.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated （ポスター掲示，一般） 2022/06/04
35.	Two patients with 10q22.3 microdeletions containing Young-Simpson syndrome gene KAT6B （ポスター掲示，一般） 2022/06/04
36.	A neurodevelopmental female with a 22q13.2 microdeletion containing TCF20 （ポスター掲示，一般） 2022/06/03
37.	Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan. （ポスター掲示，一般） 2021/12
38.	A case with Fabry disease who was diagnosed through routine health check-up by the detection of mulberry bodies in urinary sediment was led to the genetic counseling （口頭，一般） 2020/11/18
39.	Analysis of chromosome structural variations using long-read sequencing （ポスター掲示，一般） 2020/08/19
40.	Mechanism of chromosomal structural abnormalities with increased copy number at both ends （ポスター掲示，一般） 2020/08/19
41.	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders （ポスター掲示，一般） 2019/07/26
42.	Differential Diagnosis Of Congenital Hemolytic Anemia Of Neonates And Infants In Japan. （ポスター掲示，一般） 2019/06/13
43.	Meta-Analysis Using Data Of Red Cell Enzyme Assay And Proteome In Patients With Diamond-Blackfan Anemia （ポスター掲示，一般） 2019/06/13
44.	A case of chromosome 8p inverted duplication deletion syndrome with infantile spasms and severe developmental delay （ポスター掲示，一般） 2019/05/31
45.	A new case of 19q13.32 deletion with psychomotor delay, characteristic face, cardiac malformation （ポスター掲示，一般） 2019/05/31
46.	Successful treatment with perampanel to control myclonic seizure in an infant with neuronal ceroid lipofuscinosis type 14 （ポスター掲示，一般） 2019/05/31
47.	Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing （ポスター掲示，一般） 2018/10/18
48.	Screening for mutations in 14 kinds of MODY genes in Patients with MODY in Japanese by Next generation sequencing （口頭，一般） 2018/10/13
49.	Clinical and laboratory characteristics of neonatal cases suspected with infantile pyknocytosis. （ポスター掲示，一般） 2018/10/12
50.	Usefulness of comprehensive genetic testing for the diagnosis of congenital hemolytic anemia （口頭，一般） 2018/10/12
51.	Pyruvate kinase deficiency in Japan: A Summary of clinical feature, laboratory data and enzymatic diagnosis. （ポスター掲示，一般） 2018/06/15
52.	A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations? （ポスター掲示，一般） 2018/06/01
53.	A patient with epileptic encephalopathy associated with highly abnormal EEG and MED13L mutation （ポスター掲示，一般） 2018/05/31
54.	The Strict Management of Low-Density Lipoprotein Cholesterol in Heterozygous Familial Hypercholesterolemia for the Secondary Prevention of Cardiovascular Disease （ポスター掲示，一般） 2018/03/23
55.	Insight into Polygenetic Abnormalities in Japanese Heterozygous Familial Hypercholesterolemia （ポスター掲示，一般） 2018/01/06
56.	The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis （ポスター掲示，一般） 2017/12/09
57.	Neuro-functional analysis using disease-specific iPS cells （口頭，シンポジウム・ワークショップパネル（公募）） 2017/09/08
58.	Rapid Resolution of Tendon Xanthomas in Elder Heterozygous Familial Hyperchorestelemia Treated With Evolocumab （ポスター掲示，一般） 2017/03/17
59.	The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia. （口頭，一般） 2016/12/03
60.	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts （口頭，一般） 2016/06/04
61.	Mutation in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease （ポスター掲示，一般） 2016/04/05
62.	A case of mandibulofacial dysostosis with microcephaly presenting with epilepsy. （ポスター掲示，一般） 2016/04/03
63.	CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. （ポスター掲示，一般） 2016/04/03
64.	Mutation in the gene encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. （ポスター掲示，一般） 2016/04/03
65.	Novel mutation in the COL1A1 gene causes severe scoliosis and valvular heart disease in a Japanese family with osteogenesis imperfecta. （ポスター掲示，一般） 2016/04/03
66.	Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. （ポスター掲示，一般） 2016/04/03
67.	Similarities of the ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum (OMIM 225040) and cardio-facio-cutaneous syndrome (OMIM 115150). （ポスター掲示，一般） 2016/04/03
68.	Similarities of the ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum (OMIM 225040) and cardio-facio-cutaneous syndrome (OMIM 115150). （ポスター掲示，一般） 2016/04/03
69.	Single nucleotide variation in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. （ポスター掲示，一般） 2016/04/03
70.	Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. （ポスター掲示，一般） 2016/04/03
71.	Two cases of monosomy of 3q with cerebral MRI findings. （ポスター掲示，一般） 2016/04/03
72.	Genetic basis of benign infantile epilepsy （口頭，特別講演・招待講演など） 2015/09/25
73.	A new KCNT1 mutation in a patient with epilepsy of infancy with migrating focal seizures （ポスター掲示，一般） 2014/11/19
74.	Characteristics of the patients with benign partial epilepsy in infancy due to PRRT2 mutations （ポスター掲示，一般） 2014/11
75.	[Special Lecture] Practical application of chromosomal microarray testing （口頭，特別講演・招待講演など） 2013/09
76.	Whole-exome sequence for a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasia. （口頭，一般） 2013/05
77.	Comprehensive analysis of CDKL5 in patients with epileptic encephalopathy （口頭，一般） 2011/08/13
78.	Xq11.1 nullisomy including ARHGEF9 （ポスター掲示，一般） 2011/08/12
79.	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2009/10
80.	Microdeletion and triplication around 17p13 including PAFAH1B/LIS1 in three patients with MR and epilepsy 2009/10
81.	Autism related 593-kb microdeletion of 16p11.2 in a mother and son without autism but MR 2009/05
82.	CDKL5 mutations in patients with early-onset intractable epilepsy and autistic behavior 2009/05
83.	DETECTION OF GENOMIC REARRANGEMENTS OF MODY GENE IN JAPANESE PATIENTS 2009/04
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■ Research areas

Embryonic medicine and pediatrics

■ Education

1983/04～1989/03

Faculty of Medicine, Tottori University, Graduated,

■ Academic & professional experience

1.	2017/07	Professor
2.	2017/07～	Professor
3.	2010/04～	Tokyo Women's Medical University Institute for Integrated Medical Sciences Associate Professor
4.	2006/01～2008/03	Lecturer

■ Rsearch funding number

20252851