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The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.

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Title: The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.
Authors: Zhao S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Sinson JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Li S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Macakova K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Pena M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Maywald B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Clark T; Ultima Genomics, Newark, CA 94538, USA., Lithwick GY; Ultima Genomics, Newark, CA 94538, USA., Shipony Z; Ultima Genomics, Newark, CA 94538, USA., Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pengfeil@bcm.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2578-2590. Date of Electronic Publication: 2025 Oct 10.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Zhao+S%22">Zhao S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Sinson+JC%22">Sinson JC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Li+S%22">Li S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Zapata+G%22">Zapata G</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Macakova+K%22">Macakova K</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Pena+M%22">Pena M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Maywald+B%22">Maywald B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Worley+KC%22">Worley KC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Weisz-Hubshman+M%22">Weisz-Hubshman M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Ketkar+S%22">Ketkar S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Craigen+W%22">Craigen W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Emrick+L%22">Emrick L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Clark+T%22">Clark T</searchLink>; Ultima Genomics, Newark, CA 94538, USA.<br /><searchLink fieldCode="AU" term="%22Lithwick+GY%22">Lithwick GY</searchLink>; Ultima Genomics, Newark, CA 94538, USA.<br /><searchLink fieldCode="AU" term="%22Shipony+Z%22">Shipony Z</searchLink>; Ultima Genomics, Newark, CA 94538, USA.<br /><searchLink fieldCode="AU" term="%22Eng+C%22">Eng C</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Liu+P%22">Liu P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pengfeil@bcm.edu.
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