CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.

Autor: Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu., Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Abe K; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Oginuma M; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Harako S; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ishitani S; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Lehesjoki AE; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ehmke N; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Holtgrewe M; Charité - Universitätsmedizin Berlin, Berlin, Germany.; Core Unit Bioinformatics - CUBI, Berlin Institute of Health, Berlin, Germany., Anderson K; Department of Pediatrics, University of Vermont Medical Center, Burlington, VT, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Edgar-Zarate CL; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Morrow MM; GeneDx, Gaithersburg, MD, USA., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA., Pappas J; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA., Rabin R; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA., Muona M; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.; Blueprint Genetics, Helsinki, Finland., Anttonen AK; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.; Department of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany., Kaname T; Department of Genome Medicine, National Center for Child Health and Developemt, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan., Kaido Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ohkuma Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Hirose Y; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan., Ishitani T; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1050-1057. Date of Electronic Publication: 2021 Jan 25.

Using Didactics and Simulation to Enhance Comfort, Knowledge, and Skills of Nonsurgical Trainees Caring for Patients With Tracheostomy and Laryngectomy.

Autor: Davis KA; From the Departments of Internal Medicine (K.A.D., T.N.A., C.L.E.-Z.) and Pediatrics (C.L.E.-Z.), University of Arkansas for Medical Sciences, Little Rock, AR; Division of Pediatric Otolaryngology (J.B.-V.), Seattle Children's Hospital, University of Washington, Seattle, WA; Department of Otolaryngology-Head and Neck Surgery (O.E.T.-U., J.B.-V), University of Arkansas for Medical Sciences, Little Rock, AR; and Division of Pediatric Pulmonary and Sleep Medicine (A.A.), Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR., Edgar-Zarate CL, Bonilla-Velez J, Atkinson TN, Tulunay-Ugur OE, Agarwal A

Publikováno v: Simulation in healthcare : journal of the Society for Simulation in Healthcare [Simul Healthc] 2019 Dec; Vol. 14 (6), pp. 384-390.