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Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

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Title: Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
Authors: Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA., Rajagopalan R; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ayazseven T; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sarmady M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Medical Genetics, Cohen Children's Medical Center, Northwell Health, New York, New York, USA.; Department of Pediatrics, Zucker School of Medicine, Hofstra University, New York, New York, USA., Abou Tayoun AN; Dubai Health Genomic Medicine Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Source: Human mutation [Hum Mutat] 2025 Dec 01; Vol. 2025, pp. 6371082. Date of Electronic Publication: 2025 Dec 01 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
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  Data: <searchLink fieldCode="AU" term="%22Rentas+S%22">Rentas S</searchLink>; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Rajagopalan+R%22">Rajagopalan R</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ayazseven+T%22">Ayazseven T</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Sarmady+M%22">Sarmady M</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Raible+SE%22">Raible SE</searchLink>; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Krantz+ID%22">Krantz ID</searchLink>; Division of Medical Genetics, Cohen Children's Medical Center, Northwell Health, New York, New York, USA.; Department of Pediatrics, Zucker School of Medicine, Hofstra University, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Abou+Tayoun+AN%22">Abou Tayoun AN</searchLink>; Dubai Health Genomic Medicine Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2025 Dec 01; Vol. 2025, pp. 6371082. <i>Date of Electronic Publication: </i>2025 Dec 01 (<i>Print Publication: </i>2025).
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        Value: 10.1155/humu/6371082
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      – TitleFull: Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.
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              Text: 2025 Dec 01
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