Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

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Title: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
Authors: Robinson KR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Paschall JE; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos 101017, Nigeria., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA., Butali A; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA., Buxó CJ; School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hecht JT; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA., Uribe LM; Department of Orthodontics and the Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Weinberg SM; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA., Marazita ML; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 Nov 06; Vol. 112 (11), pp. 2679-2692. Date of Electronic Publication: 2025 Oct 06.
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.2025.09.009