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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi, Sayaka; Pérez-Jurado, Luis A; Palomares, María; Rangu, Sneha; Sheppard, Sarah E; Chung, Wendy K; Kruer, Michael C; Kharbanda, Mira; Amor, David J; McGillivray, George; Cohen, Julie S; García-Miñaúr, Sixto; van Eyk, Clare L; Harper, Kelly; Jolly, Lachlan A; Webber, Dani L; Barnett, Christopher P; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela Del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R; Bhoj, Elizabeth J; Li, Dong; Ortiz-Gonzalez, Xilma R; Keena, Beth; Zackai, Elaine H; Goldberg, Ethan M; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E; Stegmann, Alexander P A; Sinnema, Margje; Stevens, Servi C J.
Affiliation
  • Kayumi S; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Pérez-Jurado LA; Genetics Service, Hospital del Mar Medical Research Institute (IMIM), Network Research Centre for Rare Diseases (CIBERER), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
  • Palomares M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.
  • Rangu S; Albert Einstein College of Medicine, Bronx, NY; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY.
  • Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, P
  • Kharbanda M; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom.
  • Amor DJ; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • McGillivray G; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD.
  • García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.
  • van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Harper K; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; Adelaide Biomedical School, The University of Adelaide, Adelaide, South Australia, Australia.
  • Webber DL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
  • Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.
  • Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.
  • Pozo AD; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.
  • Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, P
  • Deardorff M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Departments of Pathology and Laboratory Medicine and Pediatrics, Children's Hospital Los Angeles, Keck School of
  • Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Grand K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA.
  • Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI.
  • Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA.
  • Ortiz-Gonzalez XR; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Perez de Nanclares G; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
  • Pereda A; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
  • Llano-Rivas I; Department of Genetics, Hospital de Cruces, Barakaldo, Spain.
  • Arroyo I; Servicio de Neonatología, Hospital San Pedro de Alcántara, Cáceres, Spain.
  • Fernández-Cuesta MÁ; Neuropediatrics, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain.
  • Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromos
  • Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromos
  • Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Bruel AL; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France.
  • Tress ML; Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Fine AS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD.
  • Crompton KE; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Stevens SCJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Genet Med ; 24(11): 2351-2366, 2022 11.
Article in En | MEDLINE | ID: mdl-36083290
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: Genet Med Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: Genet Med Year: 2022 Document type: Article