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Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

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Title: Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.
Authors: Sheth F; FRIGE Institute of Human Genetics, Ahmedabad, India., Shah J; FRIGE Institute of Human Genetics, Ahmedabad, India., Muranjan M; Seth GSMC & KEM Hospital, Mumbai, India., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany., Padutsch N; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany., Mane S; Yale Centre for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA., Ng SME; Yale Centre for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA., Li P; Department of Genetics, Yale University, New Haven, Connecticut, USA., Desai M; FRIGE Institute of Human Genetics, Ahmedabad, India., Kansara H; FRIGE Institute of Human Genetics, Ahmedabad, India., Sheth JJ; FRIGE Institute of Human Genetics, Ahmedabad, India., Sheth H; FRIGE Institute of Human Genetics, Ahmedabad, India.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1673-1681. Date of Electronic Publication: 2026 Feb 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Shah+J%22">Shah J</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; Seth GSMC & KEM Hospital, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Liehr+T%22">Liehr T</searchLink>; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Padutsch+N%22">Padutsch N</searchLink>; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Mane+S%22">Mane S</searchLink>; Yale Centre for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Ng+SME%22">Ng SME</searchLink>; Yale Centre for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Li+P%22">Li P</searchLink>; Department of Genetics, Yale University, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Desai+M%22">Desai M</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Kansara+H%22">Kansara H</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+JJ%22">Sheth JJ</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Sheth+H%22">Sheth H</searchLink>; FRIGE Institute of Human Genetics, Ahmedabad, India.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1673-1681. <i>Date of Electronic Publication: </i>2026 Feb 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.70105
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        Text: English
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      – TitleFull: Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.
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              Text: 2026 Jul
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