Koh-Ichiro Yoshiura

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Publications in SciGraph latest 50 shown

  • 2022-05-17 Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia in CLINICAL EPIGENETICS
  • 2021-11-24 Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency in NATURE COMMUNICATIONS
  • 2021-10-15 BCS1L mutations produce Fanconi syndrome with developmental disability in JOURNAL OF HUMAN GENETICS
  • 2021-06-02 Bile extracellular vesicles from end-stage liver disease patients show altered microRNA content in HEPATOLOGY INTERNATIONAL
  • 2021-02-18 A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models in TRANSLATIONAL PSYCHIATRY
  • 2020-12-06 General Remarks About Autosomal Diseases in FETAL MORPH FUNCTIONAL DIAGNOSIS
  • 2020-08-11 KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome in SCIENTIFIC REPORTS
  • 2020-06-22 Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report in BMC ENDOCRINE DISORDERS
  • 2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) in HUMAN GENOME VARIATION
  • 2019-08-14 Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report in SURGICAL CASE REPORTS
  • 2019-05-29 Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan in JOURNAL OF HUMAN GENETICS
  • 2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-01-31 Identification of a novel CCDC22 mutation in a patient with severe Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2019-01-28 A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency in JOURNAL OF HUMAN GENETICS
  • 2018-12-04 Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer in CLINICAL EPIGENETICS
  • 2018-03-29 Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome in HUMAN GENOME VARIATION
  • 2018-02-07 Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2018-02-02 Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder in TRANSLATIONAL PSYCHIATRY
  • 2018-01-15 A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome in JOURNAL OF HUMAN GENETICS
  • 2018-01-09 A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure in CEN CASE REPORTS
  • 2017-12-26 Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2017-11-09 Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism in HUMAN GENOME VARIATION
  • 2017-09-12 Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease in ARTHRITIS RESEARCH & THERAPY
  • 2017-07-27 Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death in JOURNAL OF HUMAN GENETICS
  • 2017-07-27 Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease in HUMAN GENOME VARIATION
  • 2017-05-26 Erratum: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome in NATURE GENETICS
  • 2017-04-27 Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum in JOURNAL OF HUMAN GENETICS
  • 2017-03-23 Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation in JOURNAL OF HUMAN GENETICS
  • 2017-01-09 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development in NATURE GENETICS
  • 2017-01-09 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome in NATURE GENETICS
  • 2016-10-22 Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature in DIAGNOSTIC PATHOLOGY
  • 2016-07-30 Familial Mediterranean fever is no longer a rare disease in Japan in ARTHRITIS RESEARCH & THERAPY
  • 2016-06-02 Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin in ENDOCRINE PATHOLOGY
  • 2016-05-19 A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population in JOURNAL OF HUMAN GENETICS
  • 2015-12-30 Increased Levels of Cell-Free miR-517a and Decreased Levels of Cell-Free miR-518b in Maternal Plasma Samples From Placenta Previa Pregnancies at 32 Weeks of Gestation in REPRODUCTIVE SCIENCES
  • 2015-09-28 A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome in PEDIATRIC RHEUMATOLOGY
  • 2015-07-16 Germline mutations causing familial lung cancer in JOURNAL OF HUMAN GENETICS
  • 2014-10-21 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-06-02 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2014-02-13 Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US in JOURNAL OF HUMAN GENETICS
  • 2014-01-09 A novel diagnostic method targeting genomic instability in intracystic tumors of the breast in BREAST CANCER
  • 2013-03-13 Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-03-07 Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer in JOURNAL OF HUMAN GENETICS
  • 2013-01-04 High expression of ATP-binding cassette transporter ABCC11 in breast tumors is associated with aggressive subtypes and low disease-free survival in BREAST CANCER RESEARCH AND TREATMENT
  • 2012-09-21 The Ruby UCSC API: accessing the UCSC genome database using Ruby in BMC BIOINFORMATICS
  • 2012-06-25 Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions in JOURNAL OF HUMAN GENETICS
  • 2012-04-01 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair in NATURE GENETICS
  • 2012-03-08 Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions in JOURNAL OF HUMAN GENETICS
  • 2011-12-07 Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization in RADIATION ONCOLOGY
  • 2011-09-08 Agile parallel bioinformatics workflow management using Pwrake in BMC RESEARCH NOTES
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