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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.

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Title: Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.
Authors: Kao HJ; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Wang EHF; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Yeh EC; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Chen HH; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Hsieh FJ; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Ko TM; Genephile Bioscience Laboratory, Taipei, Taiwan., Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Kwok PY; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.; Cardiovascular Research Institute, Institute for Human Genetics, and Department of Dermatology, University of California, San Francisco, San Francisco, California, USA., Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2025 Jun; Vol. 13 (6), pp. e70115.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.
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  Data: <searchLink fieldCode="AU" term="%22Kao+HJ%22">Kao HJ</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wang+EHF%22">Wang EHF</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Yeh+EC%22">Yeh EC</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+HH%22">Chen HH</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hsieh+FJ%22">Hsieh FJ</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ko+TM%22">Ko TM</searchLink>; Genephile Bioscience Laboratory, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hwu+WL%22">Hwu WL</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Kwok+PY%22">Kwok PY</searchLink>; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.; Cardiovascular Research Institute, Institute for Human Genetics, and Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Lee+NC%22">Lee NC</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE
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        Value: 10.1002/mgg3.70115
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      – Code: eng
        Text: English
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        StartPage: e70115
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      – TitleFull: Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.
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            – D: 01
              M: 06
              Text: 2025 Jun
              Type: published
              Y: 2025
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