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Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency JOURNAL ARTICLE published 3 February 2021 in Human Genome Variation |
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Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals JOURNAL ARTICLE published 31 March 2021 in Human Genome Variation |
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A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site JOURNAL ARTICLE published 21 July 2021 in Human Genome Variation |
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A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder JOURNAL ARTICLE published 17 December 2021 in Human Genome Variation |
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Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report JOURNAL ARTICLE published 22 November 2021 in Human Genome Variation |
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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation JOURNAL ARTICLE published 13 October 2016 in Human Genome Variation |
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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia JOURNAL ARTICLE published 29 October 2021 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (21ek0109489h0002) | MEXT | Japan Society for the Promotion of Science (JP21H02887) |
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Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing JOURNAL ARTICLE published 7 June 2019 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (JP17km0405205,JP17km0105001,JP17km0105002) |
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A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay JOURNAL ARTICLE published 23 May 2019 in Human Genome Variation |
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Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease JOURNAL ARTICLE published 9 January 2015 in Human Genome Variation |
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Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy JOURNAL ARTICLE published 26 November 2015 in Human Genome Variation |
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LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder JOURNAL ARTICLE published 29 September 2020 in Human Genome Variation Research funded by MEXT | Japan Society for the Promotion of Science (19H03589,22129007,20023039,20249054,18390323) |
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Distal 2q duplication in a patient with intellectual disability JOURNAL ARTICLE published 10 November 2022 in Human Genome Variation |
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Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2 JOURNAL ARTICLE published 21 August 2019 in Human Genome Variation Research funded by National Natural Science Foundation of China (no.81000104,no.81470521,no.81470521,no.81470521,no.81000104,no.81000104,no.81470521,no.81000104,no.81470521,no.81000104,no.81470521,no.81000104,no.81000104) |
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Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families JOURNAL ARTICLE published 28 August 2018 in Human Genome Variation |
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A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins JOURNAL ARTICLE published 29 February 2024 in Human Genome Variation |
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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting JOURNAL ARTICLE published 6 May 2021 in Human Genome Variation |
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Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals JOURNAL ARTICLE published 7 January 2016 in Human Genome Variation |
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family JOURNAL ARTICLE published 29 June 2017 in Human Genome Variation |
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Novel USP9X variants in two patients with X-linked intellectual disability JOURNAL ARTICLE published 21 October 2019 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (18kk02050h003) |