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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood, Kelly; Watt, Kristin E N; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P; Begtrup, Amber; Bertola, Debora R; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R; Guillen Sacoto, Maria J; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L; Slavotinek, Anne; Sullivan, Bonnie R; Stark, Zornitza; Symonds, Joseph D; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W; Trainor, Paul A; Weaver, K Nicole.
Afiliação
  • Smallwood K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Watt KEN; Stowers Institute for Medical Research, Kansas City, MO, USA.
  • Ide S; Genome Dynamics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan; Department of Genetics, School of Life Science, Sokendai (Graduate University for Advanced Studies), Mishima, Shizuoka, Japan.
  • Baltrunaite K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Brunswick C; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Inskeep K; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Capannari C; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Adam MP; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.
  • Bertola DR; University of São Paulo, São Paulo, Brazil.
  • Demmer L; Atrium Health's Levine Children's Hospital, Charlotte, NC, USA.
  • Demo E; Sibley Heart Center, Atlanta, GA, USA.
  • Devinsky O; Department of Neurology, Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA.
  • Gallagher ER; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Guillen Sacoto MJ; GeneDx, LLC, Gaithersburg, MD, USA.
  • Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
  • Kussmann J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA.
  • Ladda R; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA, USA.
  • Lansdon LA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA; Genomic Medicine Center, Children's Mercy Research Institute, 2401 Gillham Road, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, K
  • Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.
  • Mardy A; Department of Women's Health, University of Texas Austin Dell Medical Center, Austin, TX, USA.
  • McWalters K; GeneDx, LLC, Gaithersburg, MD, USA.
  • Person R; GeneDx, LLC, Gaithersburg, MD, USA.
  • Raiti L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia.
  • Saitoh N; The Cancer Institute of JFCR, Tokyo, Japan.
  • Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA; Genomic Medicine Center, Children's Mercy Research Institute, 2401 Gillham Road, Kansas City, MO, USA; School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, K
  • Schnur R; GeneDx, LLC, Gaithersburg, MD, USA.
  • Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Sell SL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA, USA.
  • Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Sullivan BR; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, USA.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Melbourne, VIC, Australia.
  • Symonds JD; Paediatric Neuroscience Research Group, Royal Hospital for Children, Glasgow G667AB, UK.
  • Wenger T; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Weber S; CCA-AHU de génétique clinique et de neurogénétique, Service de Génétique et de Neurologie, CHU de Caen, Caen, France.
  • Whalen S; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia.
  • Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
  • Maeshima K; Genome Dynamics Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan; Department of Genetics, School of Life Science, Sokendai (Graduate University for Advanced Studies), Mishima, Shizuoka, Japan.
  • Stottmann RW; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, OH, USA.
  • Trainor PA; Stowers Institute for Medical Research, Kansas City, MO, USA; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.
  • Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: kathryn.weaver@cchmc.org.
Am J Hum Genet ; 110(5): 809-825, 2023 05 04.
Article em En | MEDLINE | ID: mdl-37075751
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Disostose Mandibulofacial Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Disostose Mandibulofacial Idioma: En Ano de publicação: 2023 Tipo de documento: Article