Naomichi Matsumoto


Ontology type: schema:Person     


Person Info

NAME

Naomichi

SURNAME

Matsumoto

Publications in SciGraph latest 50 shown

  • 2021-12-06 Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia in BMC MEDICAL GENOMICS
  • 2021-11-23 Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities in PROGRESS IN HERITABLE SOFT CONNECTIVE TISSUE DISEASES
  • 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
  • 2021-08-17 Intellectual disability and microcephaly associated with a novel CHAMP1 mutation in HUMAN GENOME VARIATION
  • 2021-07-20 A novel LRP6 variant in a Japanese family with oligodontia in HUMAN GENOME VARIATION
  • 2021-07-12 Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant in HUMAN GENOME VARIATION
  • 2021-07-07 Novel CLTC variants cause new brain and kidney phenotypes in JOURNAL OF HUMAN GENETICS
  • 2021-06-18 A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 in HUMAN GENOME VARIATION
  • 2021-06-18 Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder in NATURE COMMUNICATIONS
  • 2021-06-10 Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders in GENETICS IN MEDICINE
  • 2021-05-24 Cerebrovascular diseases in two patients with entire NSD1 deletion in HUMAN GENOME VARIATION
  • 2021-05-04 Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy in HUMAN GENETICS
  • 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
  • 2021-04-06 Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling in NATURE COMMUNICATIONS
  • 2021-02-15 Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2021-01-29 Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder in JOURNAL OF HUMAN GENETICS
  • 2021-01-11 Any modality of renal replacement therapy can be a treatment option for Joubert syndrome in SCIENTIFIC REPORTS
  • 2021-01-07 Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population in BMC MEDICAL GENOMICS
  • 2021-01-06 Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis in JOURNAL OF HUMAN GENETICS
  • 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
  • 2020-10-09 The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins in JOURNAL OF HUMAN GENETICS
  • 2020-10-09 The identification of two pathogenic variants in a family with mild and severe forms of developmental delay in JOURNAL OF HUMAN GENETICS
  • 2020-09-18 Nonsense variants of STAG2 result in distinct congenital anomalies in HUMAN GENOME VARIATION
  • 2020-07-31 A pipeline for complete characterization of complex germline rearrangements from long DNA reads in GENOME MEDICINE
  • 2020-06-15 Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes in JOURNAL OF HUMAN GENETICS
  • 2020-06-12 Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome in NPJ BREAST CANCER
  • 2020-05-14 A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction in JOURNAL OF HUMAN GENETICS
  • 2020-04-27 De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms in JOURNAL OF HUMAN GENETICS
  • 2020-04-15 Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4 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
  • 2020-01-31 A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly in JOURNAL OF HUMAN GENETICS
  • 2020-01-21 A message for 2020 in JOURNAL OF HUMAN GENETICS
  • 2019-12-19 The 2019 JHG Young Scientist Award in JOURNAL OF HUMAN GENETICS
  • 2019-11-04 A genome-wide DNA methylation signature for SETD1B-related syndrome in CLINICAL EPIGENETICS
  • 2019-11-01 Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis in CEN CASE REPORTS
  • 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
  • 2019-09-27 Long-read sequencing for rare human genetic diseases in JOURNAL OF HUMAN GENETICS
  • 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
  • 2019-07-22 Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease in NATURE GENETICS
  • 2019-07-16 Entire FGF12 duplication by complex chromosomal rearrangements associated with West 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
  • 2019-06-28 A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy in NATURE COMMUNICATIONS
  • 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
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