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A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report JOURNAL ARTICLE published 12 August 2021 in Human Genome Variation |
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A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease JOURNAL ARTICLE published 3 December 2020 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (17bm0804012h0001) |
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A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia JOURNAL ARTICLE published 12 April 2018 in Human Genome Variation |
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Mutation spectrum of Joubert syndrome and related disorders among Arabs JOURNAL ARTICLE published 6 November 2014 in Human Genome Variation |
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Primary microcephaly caused by novel compound heterozygous mutations in ASPM JOURNAL ARTICLE published 5 April 2018 in Human Genome Variation |
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A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome JOURNAL ARTICLE published 12 November 2015 in Human Genome Variation |
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A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome JOURNAL ARTICLE published 19 April 2019 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (JP17kk0205012h0002,JP18kk0205012s0303,JP18ek0109285h0002,JP18ek0109285h0002,JP18kk0205001s0203) | MEXT | Japan Society for the Promotion of Science (16K09999) |
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Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients JOURNAL ARTICLE published 1 August 2018 in Human Genome Variation |
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Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia JOURNAL ARTICLE published 14 September 2020 in Human Genome Variation |
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family JOURNAL ARTICLE published 2 February 2023 in Human Genome Variation Research funded by MEXT | Japan Society for the Promotion of Science (21K20917) |
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Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals JOURNAL ARTICLE published 18 January 2023 in Human Genome Variation Research funded by Ministry of Science and Technology, Taiwan (#101-2320-B-195-001-MY3) |
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Design and implementation of a hybrid cloud system for large-scale human genomic research JOURNAL ARTICLE published 8 February 2023 in Human Genome Variation Research funded by Japan Agency for Medical Research and Development (JP16km0405205,JP19km0405501,JP20ek0109492,JP21wm0425009,JP20ek0109485,JP18ek0109348,JP21ek0109548,JP22tm0424222,JP16km0405205,JP19km0405501,JP18ek0109348,JP21ek0109548) |
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Genome-wide association study of preterm birth and gestational age in a Japanese population JOURNAL ARTICLE published 13 June 2023 in Human Genome Variation Research funded by National Center for Child Health and Development (NCCHD 2022A-3) | MEXT | Japan Society for the Promotion of Science (21H02887) | Japan Society for the Promotion of Science London (21K19584) |
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A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene JOURNAL ARTICLE published 24 March 2023 in Human Genome Variation Research funded by Ministry of Health, Labour and Welfare, Japan | Tsubame Rosai Hospital (20FC1055) | Ministry of Health, Labour and Welfare (20FC1046) | MEXT | Japan Society for the Promotion of Science (JP16K11284,JP20K09825) | Japan Agency for Medical Research and Development (JP22ek0109549) |
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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features JOURNAL ARTICLE published 7 August 2023 in Human Genome Variation |
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Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly JOURNAL ARTICLE published 24 April 2018 in Human Genome Variation |
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Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability JOURNAL ARTICLE published 27 November 2020 in Human Genome Variation |
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The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features JOURNAL ARTICLE published 30 November 2017 in Human Genome Variation |
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Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection JOURNAL ARTICLE published 19 January 2017 in Human Genome Variation |
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Pathway activation strength is a novel independent prognostic biomarker for cetuximab sensitivity in colorectal cancer patients JOURNAL ARTICLE published 2 April 2015 in Human Genome Variation |