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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M G; Fitzgerald, Tomas W; Kahlert, Anne-Karin; Sifrim, Alejandro; Wünnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S; Benson, D Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers Ef; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R; Milewicz, Dianna M; Lemaire, Scott; Coselli, Joseph S; Mitchell, Michael E; Tomita-Mitchell, Aoy; Prakash, Siddharth K; Stamm, Karl; Stewart, Alexandre F R; Silversides, Candice K; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A; Vater, Inga; Postma, Alex V; Caliebe, Almuth; Brook, J David; Andelfinger, Gregor; Hurles, Matthew E; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip.
Afiliação
  • Audain E; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Wilsdon A; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Breckpot J; School of Life Sciences, University of Nottingham, University Park, Nottingham, United Kingdom.
  • Izarzugaza JMG; Centre for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
  • Fitzgerald TW; Department of Health Technology, Technical University of Denmark, Lyngby, Denmark.
  • Kahlert AK; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, United Kingdom.
  • Sifrim A; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Wünnemann F; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Perez-Riverol Y; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Abdul-Khaliq H; Department of Human Genetics, University of Leuven, KU Leuven, Leuven, Belgium.
  • Bak M; Sanger Institute-EBI Single-Cell Genomics Centre, Wellcome Trust Sanger Institute, Hinxton, United Kingdom.
  • Bassett AS; Montreal Heart Institute, Université de Montréal, Québec, Canada.
  • Benson DW; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Berger F; Clinic for Pediatric Cardiology-University Hospital of Saarland, Homburg (Saar), Germany.
  • Daehnert I; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Devriendt K; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Dittrich S; Toronto Congenital Cardiac Centre for Adults, and Division of Cardiology, Department of Medicine, University Health Network, Toronto, Canada.
  • Daubeney PE; Department of Psychiatry, University of Toronto, Toronto, Canada.
  • Garg V; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
  • Hackmann K; Department of Congenital Heart Disease-Pediatric Cardiology, German Heart Center Berlin, Berlin, Germany.
  • Hoff K; Department of Pediatric Cardiology and Congenital Heart Disease, Heart Center, University of Leipzig, Leipzig, Germany.
  • Hofmann P; Centre for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
  • Dombrowsky G; Department of Pediatric Cardiology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Pickardt T; Division of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom.
  • Bauer U; The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Keavney BD; Department of Molecular Genetics, The Ohio State University, Columbus, Ohio, United States of America.
  • Klaassen S; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
  • Kramer HH; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
  • Marshall CR; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Milewicz DM; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Lemaire S; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Coselli JS; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Mitchell ME; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Tomita-Mitchell A; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Prakash SK; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Stamm K; Competence Network for Congenital Heart Defects, Berlin, Germany.
  • Stewart AFR; Competence Network for Congenital Heart Defects, Berlin, Germany.
  • Silversides CK; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
  • Siebert R; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.
  • Stiller B; Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max-Delbrück-Center for Molecular Medicine (MDC), Berlin, Germany.
  • Rosenfeld JA; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Pediatric Cardiology, Berlin, Germany.
  • Vater I; DZHK (German Centre for Cardiovascular Research), partner site Berlin, Berlin, Germany.
  • Postma AV; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
  • Caliebe A; German Center for Cardiovascular Research (DZHK), Kiel, Germany.
  • Brook JD; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
  • Andelfinger G; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.
  • Hurles ME; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, United States of America.
  • Thienpont B; Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, United States of America.
  • Larsen LA; Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
  • Hitz MP; Department of Surgery, Division of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
PLoS Genet ; 17(7): e1009679, 2021 07.
Article em En | MEDLINE | ID: mdl-34324492

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Haploinsuficiência / Cardiopatias Congênitas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Haploinsuficiência / Cardiopatias Congênitas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos