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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
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  Data: Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.
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  Data: <searchLink fieldCode="AU" term="%22Robinson+KR%22">Robinson KR</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Curtis+SW%22">Curtis SW</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Paschall+JE%22">Paschall JE</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA.<br /><searchLink fieldCode="AU" term="%22Adeyemo+WL%22">Adeyemo WL</searchLink>; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos 101017, Nigeria.<br /><searchLink fieldCode="AU" term="%22Beaty+TH%22">Beaty TH</searchLink>; Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA.<br /><searchLink fieldCode="AU" term="%22Butali+A%22">Butali A</searchLink>; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Buxó+CJ%22">Buxó CJ</searchLink>; School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA.<br /><searchLink fieldCode="AU" term="%22Cutler+DJ%22">Cutler DJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Epstein+MP%22">Epstein MP</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Gowans+LJJ%22">Gowans LJJ</searchLink>; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.<br /><searchLink fieldCode="AU" term="%22Hecht+JT%22">Hecht JT</searchLink>; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Shaw+GM%22">Shaw GM</searchLink>; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Uribe+LM%22">Uribe LM</searchLink>; Department of Orthodontics and the Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Murray+JC%22">Murray JC</searchLink>; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Weinberg+SM%22">Weinberg SM</searchLink>; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA.<br /><searchLink fieldCode="AU" term="%22Marazita+ML%22">Marazita ML</searchLink>; Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA.<br /><searchLink fieldCode="AU" term="%22Doheny+KF%22">Doheny KF</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA.<br /><searchLink fieldCode="AU" term="%22Leslie-Clarkson+EJ%22">Leslie-Clarkson EJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
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