Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.

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Title: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.
Authors: Robinson KR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Paschall JE; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD., Butali A; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA., Buxó CJ; School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Hecht JT; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX., Uribe LM; Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Mar 04. Date of Electronic Publication: 2025 Mar 04.
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
Description
DOI:10.1101/2025.03.03.25323233