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Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Huth, Emily A; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N; Vogel, Ida; Dorf, Inger L H; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J; Louw, Jacoba J; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S; Rankin, Julia; Helvaty, Lindsey R; Landis, Benjamin J; Geddes, Gabrielle C; McBride, Kim L; Ware, Stephanie M; Shaw, Chad A; Lalani, Seema R; Rosenfeld, Jill A; Scott, Daryl A.
Afiliación
  • Huth EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Owen N; Baylor Genetics, Houston, TX, USA.
  • Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Vogel I; Baylor Genetics, Houston, TX, USA.
  • Dorf ILH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Joss S; Department of Clinical Medicine, Aarhus University, 8000, Aarhus, C, Denmark.
  • Clayton-Smith J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
  • Parker MJ; West of Scotland Genomics Service, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
  • Louw JJ; Manchester Centre For Genomic Medicine, Manchester University Hospitals, Manchester, M13 9WL, UK.
  • Gewillig M; University of Manchester, Manchester, M13 9PL, UK.
  • Breckpot J; Department of Clinical Genetics, Sheffield, Children's Hospital, UK.
  • Kraus A; Pediatric Cardiology Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Sasaki E; Department of Cardiovascular Sciences KU Leuven, Leuven, Belgium.
  • Kini U; Pediatric Cardiology University Hospitals Leuven, Leuven, Belgium.
  • Burgess T; Center for Human Genetics, University Hospitals Leuven, Catholic University, Leuven, Belgium.
  • Tan TY; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
  • Armstrong R; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK.
  • Neas K; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK.
  • Ferrero GB; Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.
  • Brusco A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Kerstjens-Frederikse WS; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Rankin J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Helvaty LR; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Landis BJ; East Anglian Medical Genetics Service, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.
  • Geddes GC; Genetic Health Service NZ, Wellington, New Zealand.
  • McBride KL; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy.
  • Ware SM; Department of Medical Sciences, University of Torino, Torino, Italy.
  • Shaw CA; Città della Salute e della Scienza University Hospital, Torino, Italy.
  • Lalani SR; Department Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Rosenfeld JA; Peninsula Clinical Genetics Service, Exeter, UK.
  • Scott DA; Indiana University School of Medicine, Indianapolis, IN, USA.
Eur J Hum Genet ; 31(12): 1430-1439, 2023 12.
Article en En | MEDLINE | ID: mdl-37673932

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Cimitarra / Anomalías Múltiples / Cardiopatías Congénitas Límite: Animals Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Cimitarra / Anomalías Múltiples / Cardiopatías Congénitas Límite: Animals Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos