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

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Bibliographic Details
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
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.70105