H. Ohashi

Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services
20232 citationsauthor #18
RASopathies and spinal deformities for screening of scoliosis
20231 citationsauthor #3
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
202312 citationsauthor #6
DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
20231 citationsauthor #15
Lacosamide Was Effective for Epilepsy in Two Infants with KCNQ2-related Developmental and Epileptic Encephalopathy
20230 citationsauthor #8
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
20235 citationsauthor #9
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
20235 citationsauthor #20
A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability
20231 citationsauthor #4
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation.
202216 citationsauthor #8
Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome
202212 citationsauthor #32
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
20226 citationsauthor #11
Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan
20221 citationsauthor #3
Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan
20220 citationsauthor #3
Back Cover, Volume 43, Issue 7
20220 citationsauthor #32
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
202210 citationsauthor #6
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome
20222 citationsauthor #9
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
20229 citationsauthor #4
Identification of Disease Gene for Camurati-Engelmann Disease, Type II
20220 citationsauthor #10
Adapted whole‐body surveillance for von Hippel–Lindau‐associated tumors in 3p deletion syndrome with VHL deletion: A case report
20220 citationsauthor #5
Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course
20224 citationsauthor #6
20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report
20214 citationsauthor #4
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
20210 citationsauthor #3
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
20210 citationsauthor #3
Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan
20210 citationsauthor #3
Hypoplasia of abdominal wall muscles following massive fetal persistent chylous ascites without anemia
20210 citationsauthor #6
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
202132 citationsauthor #23
Large deletion in 6q containing the TNFAIP3 gene associated with autoimmune lymphoproliferative syndrome.
20214 citationsauthor #4
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
202012 citationsauthor #9
[Chromosome 17].
20205 citationsauthor #1
The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients
20203 citationsauthor #6
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report
20207 citationsauthor #8
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
201955 citationsauthor #25
Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26)
20192 citationsauthor #3
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
2019107 citationsauthor #26
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
201949 citationsauthor #4
TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum
201912 citationsauthor #4
Progressive subglottic stenosis in a child with Pallister‐Killian syndrome
20184 citationsauthor #4
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
201866 citationsauthor #10
Facultative commensalism of a free-burrowing urothoid amphipod with a deep burrow-dwelling callianassid shrimp in intertidal sand
201812 citationsauthor #4
First Patient With Salla Disease Confirmed by Genomic Analysis in Japan.
20182 citationsauthor #5
Catathrenia in Pitt–Hopkins syndrome associated with 18q interstitial deletion
20183 citationsauthor #3
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation
201737 citationsauthor #10
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.
20179 citationsauthor #2
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.
20170 citationsauthor #3
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.
201652 citationsauthor #3
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
201615 citationsauthor #3
Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1–23.3
20168 citationsauthor #5
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
201685 citationsauthor #22
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
201530 citationsauthor #8
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
20150 citationsauthor #22
Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan
201510 citationsauthor #2
Improved growth velocity of a patient with Noonan‐like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low‐dose growth hormone therapy
20156 citationsauthor #5
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
201424 citationsauthor #17
Coffin–Siris syndrome is a SWI/SNF complex disorder
2014138 citationsauthor #3
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations
201435 citationsauthor #10
Shimizu et al. Microarray and FISH-based Genotype-Phenotype Analysis of 22 Japanese Patients with Wolf-Hirschhorn Syndrome
20140 citationsauthor #19
De novo SOX11 mutations cause Coffin–Siris syndrome
2014138 citationsauthor #3
Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome
201434 citationsauthor #16
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
2013302 citationsauthor #13
Patient with terminal 9 Mb deletion of chromosome 9p: Refining the critical region for 9p monosomy syndrome with trigonocephaly
201319 citationsauthor #6
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
2013113 citationsauthor #26
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
201321 citationsauthor #13
MLL2 and KDM6A Mutations in Patients With
20134 citationsauthor #8
Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi‐detector row computed tomography
20139 citationsauthor #2
Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
201397 citationsauthor #3
KDM6A Point Mutations Cause Kabuki Syndrome
2013201 citationsauthor #4
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
201332 citationsauthor #13
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
20134 citationsauthor #12
Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
20130 citationsauthor #12
MLL2 and KDM6A mutations in patients with Kabuki syndrome
2013181 citationsauthor #8
Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomes
201335 citationsauthor #6
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome
201376 citationsauthor #2
PAPSS2 mutations cause autosomal recessive brachyolmia
201251 citationsauthor #12
Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey
201279 citationsauthor #7
Focal Segmental Glomerulosclerosis in Patients With Complete Deletion of One WT1 Allele
201213 citationsauthor #7
Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion
20127 citationsauthor #3
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
201130 citationsauthor #5
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
201113 citationsauthor #12
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
201162 citationsauthor #12
Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients
201165 citationsauthor #8
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
2011196 citationsauthor #20
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader–Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation
20116 citationsauthor #2
Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene
201116 citationsauthor #3
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader–Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation
201110 citationsauthor #2
Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome
2010142 citationsauthor #15
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant
201045 citationsauthor #11
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
201050 citationsauthor #7
A Comparison between Two-Dimensional and Three-Dimensional Cephalometry on Lateral Radiographs and Multi-Detector Row Computed Tomography of Human Skulls
20103 citationsauthor #6
Severe Peters Plus syndrome‐like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome
201016 citationsauthor #9
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
2010117 citationsauthor #20
Accuracy of Tooth Development Stage, Tooth Size and Dental Arch width in Multi-Detector Row Computed Tomography of Human Skulls
20103 citationsauthor #7
A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
201087 citationsauthor #15
A patient with early onset Huntington disease and severe cerebellar atrophy
200927 citationsauthor #8
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
200939 citationsauthor #4
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
200839 citationsauthor #8
No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome
20081 citationsauthor #4
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
2008304 citationsauthor #19
Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome
20080 citationsauthor #4
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
200818 citationsauthor #4
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan
200814 citationsauthor #9

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