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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

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Title: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Authors: 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, Phoenix, AZ., 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, Phoenix, AZ., 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 Medicine of the University of Southern California, Los Angeles, CA., 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 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., 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 Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., 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., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Lion-François L; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France., Haye D; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Piton A; Department of Medical genetics, Hopitaux Universitaires de Strasbourg, France., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bassetti J; Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medicine, New York, NY., Muss C; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Gripp KW; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Procopio RA; Department of Ophthalmology, Wills Eye Hospital, Philadelphia, PA., Millan F; GeneDX, Gaithersburg, MD., Morrow MM; GeneDX, Gaithersburg, MD., Assaf M; Banner Children's Specialists Neurology Clinic, Glendale, AZ., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA., Joss S; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Hamilton MJ; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Bertoli M; Northern Genetics Service, Newcastle upon Tyne, United Kingdom., Foulds N; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., McKee S; Northern Ireland Regional Genetics Centre, Belfast, United Kingdom., MacLennan AH; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. Electronic address: mark.corbett@adelaide.edu.au.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. Date of Electronic Publication: 2022 Sep 09.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
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  Data: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kayumi+S%22">Kayumi S</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Pérez-Jurado+LA%22">Pérez-Jurado LA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Palomares+M%22">Palomares M</searchLink>; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rangu+S%22">Rangu S</searchLink>; Albert Einstein College of Medicine, Bronx, NY; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Sheppard+SE%22">Sheppard SE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; 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, Phoenix, AZ.<br /><searchLink fieldCode="AU" term="%22Kharbanda+M%22">Kharbanda M</searchLink>; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Cohen+JS%22">Cohen JS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22García-Miñaúr+S%22">García-Miñaúr S</searchLink>; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22van+Eyk+CL%22">van Eyk CL</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Harper+K%22">Harper K</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Jolly+LA%22">Jolly LA</searchLink>; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; Adelaide Biomedical School, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Webber+DL%22">Webber DL</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pacio-Míguez+M%22">Pacio-Míguez M</searchLink>; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pozo+AD%22">Pozo AD</searchLink>; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; 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, Phoenix, AZ.<br /><searchLink fieldCode="AU" term="%22Deardorff+M%22">Deardorff M</searchLink>; 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 Medicine of the University of Southern California, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Dubbs+HA%22">Dubbs HA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Izumi+K%22">Izumi K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Grand+K%22">Grand K</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Gray+C%22">Gray C</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Mark+PR%22">Mark PR</searchLink>; Spectrum Health Medical Genetics, Grand Rapids, MI.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Ortiz-Gonzalez+XR%22">Ortiz-Gonzalez XR</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Keena+B%22">Keena B</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Goldberg+EM%22">Goldberg EM</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Perez+de+Nanclares+G%22">Perez de Nanclares G</searchLink>; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.<br /><searchLink fieldCode="AU" term="%22Pereda+A%22">Pereda A</searchLink>; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Department of Genetics, Hospital de Cruces, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Arroyo+I%22">Arroyo I</searchLink>; Servicio de Neonatología, Hospital San Pedro de Alcántara, Cáceres, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Cuesta+MÁ%22">Fernández-Cuesta MÁ</searchLink>; Neuropediatrics, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; 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 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.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; 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 Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Garde+A%22">Garde A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mazel+B%22">Mazel B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tress+ML%22">Tress ML</searchLink>; Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Brilstra+E%22">Brilstra E</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Fine+AS%22">Fine AS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Crompton+KE%22">Crompton KE</searchLink>; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stegmann+APA%22">Stegmann APA</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Sinnema+M%22">Sinnema M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Stevens+SCJ%22">Stevens SCJ</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Nicolai+J%22">Nicolai J</searchLink>; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lion-François+L%22">Lion-François L</searchLink>; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Haye+D%22">Haye D</searchLink>; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Department of Medical genetics, Hopitaux Universitaires de Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Bassetti+J%22">Bassetti J</searchLink>; Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medicine, New York, NY.<br /><searchLink fieldCode="AU" term="%22Muss+C%22">Muss C</searchLink>; Nemours/A.I duPont Hospital for Children, Wilmington, DE.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Nemours/A.I duPont Hospital for Children, Wilmington, DE.<br /><searchLink fieldCode="AU" term="%22Procopio+RA%22">Procopio RA</searchLink>; Department of Ophthalmology, Wills Eye Hospital, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Millan+F%22">Millan F</searchLink>; GeneDX, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Morrow+MM%22">Morrow MM</searchLink>; GeneDX, Gaithersburg, MD.<br /><searchLink fieldCode="AU" term="%22Assaf+M%22">Assaf M</searchLink>; Banner Children's Specialists Neurology Clinic, Glendale, AZ.<br /><searchLink fieldCode="AU" term="%22Moreno-De-Luca+A%22">Moreno-De-Luca A</searchLink>; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hamilton+MJ%22">Hamilton MJ</searchLink>; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bertoli+M%22">Bertoli M</searchLink>; Northern Genetics Service, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Foulds+N%22">Foulds N</searchLink>; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McKee+S%22">McKee S</searchLink>; Northern Ireland Regional Genetics Centre, Belfast, United Kingdom.<br /><searchLink fieldCode="AU" term="%22MacLennan+AH%22">MacLennan AH</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+MA%22">Corbett MA</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. Electronic address: mark.corbett@adelaide.edu.au.
– Name: TitleSource
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. <i>Date of Electronic Publication: </i>2022 Sep 09.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36083290
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      – Type: doi
        Value: 10.1016/j.gim.2022.08.006
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
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        StartPage: 2351
    Titles:
      – TitleFull: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
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          Dates:
            – D: 01
              M: 11
              Text: 2022 Nov
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 24
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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