Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Autor: Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Chung S; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Head ST; Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA., Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Hecht JT; Department of Pediatrics, McGovern Medical, School and School of Dentistry, UT Health at Houston, Houston, Texas, USA., Wehby GL; Department of Health Management and Policy, University of Iowa, Iowa City, Iowa, USA., Weinberg SM; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, Pennsylvania, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, Pennsylvania, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2558-2570. Date of Electronic Publication: 2023 Jun 23.

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.