Yoshinori Tsurusaki


Ontology type: schema:Person     


Person Info

NAME

Yoshinori

SURNAME

Tsurusaki

Publications in SciGraph latest 50 shown

  • 2018-12 Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy in HUMAN GENOME VARIATION
  • 2018-12 Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction in HUMAN GENOME VARIATION
  • 2018-12 Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly in HUMAN GENOME VARIATION
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-04 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations in JOURNAL OF HUMAN GENETICS
  • 2018-03-29 Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome in HUMAN GENOME VARIATION
  • 2017-08 ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-06-08 A novel UBE2A mutation causes X-linked intellectual disability type Nascimento in HUMAN GENOME VARIATION
  • 2016-12 Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals in HUMAN GENOME VARIATION
  • 2016-11 TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia in CEN CASE REPORTS
  • 2016-10 The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations in JOURNAL OF HUMAN GENETICS
  • 2016-09 De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux in JOURNAL OF HUMAN GENETICS
  • 2016-06 Human genetic variation database, a reference database of genetic variations in the Japanese population in JOURNAL OF HUMAN GENETICS
  • 2016-05 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures in JOURNAL OF HUMAN GENETICS
  • 2016-03 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder in JOURNAL OF HUMAN GENETICS
  • 2016-01 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing in HUMAN GENETICS
  • 2015-12 Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals in HUMAN GENOME VARIATION
  • 2015-12 Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome in HUMAN GENOME VARIATION
  • 2015-12 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance in JOURNAL OF HUMAN GENETICS
  • 2015-12 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing in SCIENTIFIC REPORTS
  • 2015-12 DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis in BMC GENOMICS
  • 2015-10 Novel compound heterozygous LIAS mutations cause glycine encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2015-10 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders in JOURNAL OF HUMAN GENETICS
  • 2015-07 Familial schwannomatosis with a germline mutation of SMARCB1 in Japan in BRAIN TUMOR PATHOLOGY
  • 2015-05 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation in SCIENTIFIC REPORTS
  • 2015-05 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ in JOURNAL OF HUMAN GENETICS
  • 2015-04 Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach in JOURNAL OF HUMAN GENETICS
  • 2015-04 A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation in JOURNAL OF HUMAN GENETICS
  • 2015-02 Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy in JOURNAL OF HUMAN GENETICS
  • 2014-12 A novel PITX2 mutation causing iris hypoplasia in HUMAN GENOME VARIATION
  • 2014-12 Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series in ANNALS OF GENERAL PSYCHIATRY
  • 2014-12 The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome in JOURNAL OF HUMAN GENETICS
  • 2014-12 Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly in JOURNAL OF HUMAN GENETICS
  • 2014-12 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2014-12 Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2014-10 ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing in JOURNAL OF HUMAN GENETICS
  • 2014-10 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation in JOURNAL OF HUMAN GENETICS
  • 2014-08 Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 in NEUROGENETICS
  • 2014-08 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss in JOURNAL OF HUMAN GENETICS
  • 2014-05 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain in JOURNAL OF HUMAN GENETICS
  • 2014-05 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
  • 2014-05 Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy in NEUROGENETICS
  • 2014-04 A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 in JOURNAL OF HUMAN GENETICS
  • 2014-02 A hemizygous GYG2 mutation and Leigh syndrome: a possible link? in HUMAN GENETICS
  • 2013-12 Novel FIG4 mutations in Yunis–Varon syndrome in JOURNAL OF HUMAN GENETICS
  • 2013-11 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood in NEUROGENETICS
  • 2013-06 Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia in JOURNAL OF HUMAN GENETICS
  • 2013-04 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood in NATURE GENETICS
  • 2013-02 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders in JOURNAL OF HUMAN GENETICS
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