Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.

Autor: Mukhopadhyay N; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Feingold E; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Moreno-Uribe L; Department of Orthodontics, The Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, Iowa, USA., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, Iowa, USA., Valencia-Ramirez LC; Fundación Clínica Noel, Antioquia, Colombia., Restrepo Muñeton CP; Fundación Clínica Noel, Antioquia, Colombia., Padilla C; Department of Pediatrics, College of Medicine, Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila, Philippines., Deleyiannis F; UCHealth Medical Group, Colorado Springs, Colorado, USA., Christensen K; Unit of Epidemiology, Department of Public Health, University of Southern Denmark, Odense, Denmark., 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, Texas, 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, Iowa Institute for Oral Health Research, College of Dentistry, University of Iowa, Iowa City, Iowa, USA., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria., Vieira AR; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Shaffer JR; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA., Weinberg SM; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Marazita ML; Department of Oral and Craniofacial Sciences, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Clinical and Translational Science Institute, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Publikováno v: Genetic epidemiology [Genet Epidemiol] 2022 Apr; Vol. 46 (3-4), pp. 182-198. Date of Electronic Publication: 2022 Feb 22.

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.

Autor: Bishop MR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Sun M; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Ho S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Chopra P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Mukhopadhyay N; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA., Hetmanski JB; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Taub MA; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Moreno-Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA., Valencia-Ramirez LC; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Restrepo Muñeton CP; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia., Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA., Hecht JT; Department of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA., Deleyiannis F; UCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA., Weinberg SM; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chen PK; Craniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan., Brand H; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Ruczinski I; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Beaty TH; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA., Feingold E; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA., Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Marazita ML; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 124-136. Date of Electronic Publication: 2020 Jun 22.