Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.

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Title: Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
Authors: Mukhopadhyay N; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA., Feingold EE; College of Science, Oregon State University., Brand H; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Surgery, Harvard Medical School, Boston, MA, USA., Lee MK; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA., Kurtas EN; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114., Sanchis-Juan A; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114., Moreno-Uribe L; Department of Orthodontics, & The Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, IA, USA., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA., Valencia-Ramirez LC; Fundación Clínica Noel; Calle 14 # 43B - 146, Medellín, Antioquia, Colombia., Muñeton CPR; Fundación Clínica Noel; Calle 14 # 43B - 146, Medellín, Antioquia, Colombia., Padilla C; Department of Pediatrics, College of Medicine, Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, the Philippines., Deleyiannis F; UCHealth Medical Group, Colorado Springs, CO. USA., Poletta FA; CEMIC-CONICET: Center for Medical Education and Clinical Research, Buenos Aires, Argentina., Orioli IM; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.; Instituto Nacional de Genética Médica Populacional INAGEMP, Porto Alegre, Brazil., Hecht JT; Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX, USA., Buxó CJ; Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico., Butali A; Department of Oral Pathology, Radiology and Medicine and Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, IA, USA., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria., Abebe ME; Department of Plastic and Reconstructive Surgery, Addis Ababa University, Ethiopia., Vieira AR; East Carolina University, School of Dental Medicine, Greenville, NC 27834-4354., Shaffer JR; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Ruczinski I; Department of Biostatistics, Johns Hopkins School of Public Health. 615 North Wolfe Street, Baltimore, MD 21205-2179., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jan 15. Date of Electronic Publication: 2026 Jan 15.
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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  Data: Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.
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  Data: <searchLink fieldCode="AU" term="%22Mukhopadhyay+N%22">Mukhopadhyay N</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.<br /><searchLink fieldCode="AU" term="%22Feingold+EE%22">Feingold EE</searchLink>; College of Science, Oregon State University.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Surgery, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+MK%22">Lee MK</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.<br /><searchLink fieldCode="AU" term="%22Kurtas+EN%22">Kurtas EN</searchLink>; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114.<br /><searchLink fieldCode="AU" term="%22Sanchis-Juan+A%22">Sanchis-Juan A</searchLink>; Center for Genomic Medicine, Mass General Research Institute, Boston, MA 02114.<br /><searchLink fieldCode="AU" term="%22Moreno-Uribe+L%22">Moreno-Uribe L</searchLink>; Department of Orthodontics, & The Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Wehby+G%22">Wehby G</searchLink>; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Valencia-Ramirez+LC%22">Valencia-Ramirez LC</searchLink>; Fundación Clínica Noel; Calle 14 # 43B - 146, Medellín, Antioquia, Colombia.<br /><searchLink fieldCode="AU" term="%22Muñeton+CPR%22">Muñeton CPR</searchLink>; Fundación Clínica Noel; Calle 14 # 43B - 146, Medellín, Antioquia, Colombia.<br /><searchLink fieldCode="AU" term="%22Padilla+C%22">Padilla C</searchLink>; Department of Pediatrics, College of Medicine, Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, the Philippines.<br /><searchLink fieldCode="AU" term="%22Deleyiannis+F%22">Deleyiannis F</searchLink>; UCHealth Medical Group, Colorado Springs, CO. USA.<br /><searchLink fieldCode="AU" term="%22Poletta+FA%22">Poletta FA</searchLink>; CEMIC-CONICET: Center for Medical Education and Clinical Research, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Orioli+IM%22">Orioli IM</searchLink>; Department of Genetics, Institute of Biology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.; Instituto Nacional de Genética Médica Populacional INAGEMP, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Hecht+JT%22">Hecht JT</searchLink>; Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Buxó+CJ%22">Buxó CJ</searchLink>; Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.<br /><searchLink fieldCode="AU" term="%22Butali+A%22">Butali A</searchLink>; Department of Oral Pathology, Radiology and Medicine and Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, IA, 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, Nigeria.<br /><searchLink fieldCode="AU" term="%22Abebe+ME%22">Abebe ME</searchLink>; Department of Plastic and Reconstructive Surgery, Addis Ababa University, Ethiopia.<br /><searchLink fieldCode="AU" term="%22Vieira+AR%22">Vieira AR</searchLink>; East Carolina University, School of Dental Medicine, Greenville, NC 27834-4354.<br /><searchLink fieldCode="AU" term="%22Shaffer+JR%22">Shaffer JR</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Murray+JC%22">Murray JC</searchLink>; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Weinberg+SM%22">Weinberg SM</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Ruczinski+I%22">Ruczinski I</searchLink>; Department of Biostatistics, Johns Hopkins School of Public Health. 615 North Wolfe Street, Baltimore, MD 21205-2179.<br /><searchLink fieldCode="AU" term="%22Leslie-Clarkson+EJ%22">Leslie-Clarkson EJ</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Marazita+ML%22">Marazita ML</searchLink>; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, 15219 USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
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