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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 MT; Dept. of Genetics, Stanford Univ., Stanford, CA., Mendez R; Department of Medicine, Stanford Univ., Stanford, CA., Ungar RA; Dept. of Genetics, Stanford Univ., Stanford, CA.; Stanford Center for Biomedical Ethics, Stanford Univ., Stanford, CA., Bonner DE; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA., Matalon DR; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Goddard PC; Dept. of Genetics, Stanford Univ., Stanford, CA., Padhi EM; Dept. of Pathology, Stanford Univ., Stanford, CA., Miller AM; Dept. of Pathology, Stanford Univ., Stanford, CA., Nguyen JV; Dept. of Pathology, Stanford Univ., Stanford, CA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Smith KS; Dept. of Pathology, Stanford Univ., Stanford, CA., Scott SA; Dept. of Pathology, Stanford Univ., Stanford, CA.; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Marwaha S; Div. of Cardiovascular Medicine, Stanford Univ. School of Medicine, Stanford, CA., Bademci G; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Bivona SA; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Tekin M; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Bernstein JA; Dept. of Pediatrics, Stanford Univ. School of Medicine, Stanford., Montgomery SB; Dept. of Pathology, Stanford Univ., Stanford, CA.; Dept. of Genetics, Stanford Univ., Stanford, CA.; Dept. of Biomedical Data Science, Stanford Univ., Stanford, CA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Wheeler MT; Department of Medicine, Stanford Univ., Stanford, CA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA.
Corporate Authors: Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jan 03. Date of Electronic Publication: 2025 Jan 03.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
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  Data: <searchLink fieldCode="AU" term="%22Arriaga+MT%22">Arriaga MT</searchLink>; Dept. of Genetics, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Mendez+R%22">Mendez R</searchLink>; Department of Medicine, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Ungar+RA%22">Ungar RA</searchLink>; Dept. of Genetics, Stanford Univ., Stanford, CA.; Stanford Center for Biomedical Ethics, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Bonner+DE%22">Bonner DE</searchLink>; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Matalon+DR%22">Matalon DR</searchLink>; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Lemire+G%22">Lemire G</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Goddard+PC%22">Goddard PC</searchLink>; Dept. of Genetics, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Padhi+EM%22">Padhi EM</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Miller+AM%22">Miller AM</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Nguyen+JV%22">Nguyen JV</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Ma+J%22">Ma J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Smith+KS%22">Smith KS</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Scott+SA%22">Scott SA</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Liao+L%22">Liao L</searchLink>; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Ng+Z%22">Ng Z</searchLink>; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Marwaha+S%22">Marwaha S</searchLink>; Div. of Cardiovascular Medicine, Stanford Univ. School of Medicine, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Bademci+G%22">Bademci G</searchLink>; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL.<br /><searchLink fieldCode="AU" term="%22Bivona+SA%22">Bivona SA</searchLink>; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Dept. of Pediatrics, Stanford Univ. School of Medicine, Stanford.<br /><searchLink fieldCode="AU" term="%22Montgomery+SB%22">Montgomery SB</searchLink>; Dept. of Pathology, Stanford Univ., Stanford, CA.; Dept. of Genetics, Stanford Univ., Stanford, CA.; Dept. of Biomedical Data Science, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Wheeler+MT%22">Wheeler MT</searchLink>; Department of Medicine, Stanford Univ., Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA.
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39802771
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        Value: 10.1101/2025.01.02.24318941
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        Text: English
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