Satoko Miyatake

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Publications in SciGraph latest 50 shown

  • 2021-12-06 Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia in BMC MEDICAL GENOMICS
  • 2021-11-13 Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing in CLINICAL EPIGENETICS
  • 2021-11-01 Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms in JOURNAL OF HUMAN GENETICS
  • 2021-09-17 Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features in JOURNAL OF HUMAN GENETICS
  • 2021-07-07 Novel CLTC variants cause new brain and kidney phenotypes in JOURNAL OF HUMAN GENETICS
  • 2021-05-24 Cerebrovascular diseases in two patients with entire NSD1 deletion in HUMAN GENOME VARIATION
  • 2021-04-08 ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice in NATURE COMMUNICATIONS
  • 2020-12-03 Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia in HUMAN GENOME VARIATION
  • 2020-11-03 Whole exome sequencing of fetal structural anomalies detected by ultrasonography in JOURNAL OF HUMAN GENETICS
  • 2020-10-10 Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy in JOURNAL OF HUMAN GENETICS
  • 2020-02-18 Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS in JOURNAL OF HUMAN GENETICS
  • 2019-10-27 Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report in BMC NEUROLOGY
  • 2019-09-17 Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients in JOURNAL OF HUMAN GENETICS
  • 2019-08-13 Comparison of mitochondrial DNA variants detection using short- and long-read sequencing in JOURNAL OF HUMAN GENETICS
  • 2019-07-23 Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-07-04 Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 in JOURNAL OF HUMAN GENETICS
  • 2019-06-18 Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant in JOURNAL OF HUMAN GENETICS
  • 2019-06-07 Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy in NATURE COMMUNICATIONS
  • 2019-06-04 Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease in ARTHRITIS RESEARCH & THERAPY
  • 2019-05-20 A novel de novo frameshift variant in SETD1B causes epilepsy in JOURNAL OF HUMAN GENETICS
  • 2019-03-19 Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads in GENOME BIOLOGY
  • 2019-02-13 A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2019-01-09 A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 in JOURNAL OF HUMAN GENETICS
  • 2018-12-17 Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases in JOURNAL OF HUMAN GENETICS
  • 2018-11-28 De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-09-27 Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic in JOURNAL OF HUMAN GENETICS
  • 2018-07-19 PEX10-related autosomal recessive cerebellar ataxia with hearing loss in ACTA NEUROLOGICA BELGICA
  • 2018-07-17 A novel SLC9A1 mutation causes cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2018-04-23 A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies in THE CEREBELLUM
  • 2018-02-28 A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2018-02-13 A homozygous NOP14 variant is likely to cause recurrent pregnancy loss in JOURNAL OF HUMAN GENETICS
  • 2018-02-06 A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features in JOURNAL OF HUMAN GENETICS
  • 2018-02-05 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations in JOURNAL OF HUMAN GENETICS
  • 2018-01-16 Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy in JOURNAL OF HUMAN GENETICS
  • 2017-12-05 A novel mutation in SLC1A3 causes episodic ataxia in JOURNAL OF HUMAN GENETICS
  • 2017-11-09 A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation in HUMAN GENOME VARIATION
  • 2017-07-20 An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination in JOURNAL OF HUMAN GENETICS
  • 2017-03-02 ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-02-16 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-01-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2017-01-12 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2016-07-20 Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay in SCIENTIFIC REPORTS
  • 2016-03-31 WDR45 mutations in three male patients with West syndrome in JOURNAL OF HUMAN GENETICS
  • 2016-03-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-02-18 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations in JOURNAL OF HUMAN GENETICS
  • 2016-01-14 De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia in JOURNAL OF HUMAN GENETICS
  • 2015-11-12 Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing in HUMAN GENETICS
  • 2015-10-19 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing in SCIENTIFIC REPORTS
  • 2015-09-10 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance in JOURNAL OF HUMAN GENETICS
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