Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

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Title: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Authors: Arriaga TM; Department of Genetics, Stanford University, Stanford, CA, USA., Mendez R; Department of Medicine, Stanford University, Stanford, CA, USA., Ungar RA; Department of Genetics, Stanford University, Stanford, CA, USA; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA., Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Goddard PC; Department of Genetics, Stanford University, Stanford, CA, USA., Padhi EM; Department of Pathology, Stanford University, Stanford, CA, USA., Miller AM; Department of Pathology, Stanford University, Stanford, CA, USA., Nguyen JV; Department of Pathology, Stanford University, Stanford, CA, USA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smith KS; Department of Pathology, Stanford University, Stanford, CA, USA., Scott SA; Department of Pathology, Stanford University, Stanford, CA, USA; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Marwaha S; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Bademci G; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Bivona SA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA; Department of Pathology, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Wheeler MT; Department of Medicine, Stanford University, Stanford, CA, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: vganesh@bwh.harvard.edu.
Corporate Authors: Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2458-2475. Date of Electronic Publication: 2025 Sep 19.
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
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.08.018