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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid, Cosima M; Gregor, Anne; Costain, Gregory; Morel, Chantal F; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J; Cohen, Ana S A; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Kianmahd Shamshoni, Jessica; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, André; Sticht, Heinrich; Chung, Wendy K; Zweier, Christiane.
Affiliation
  • Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research, University of Bern, Bern, Switzerland.
  • Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research, University of Bern, Bern, Switzerland; Bern Center for Precision Medicine (BCPM), University of Bern, Bern, Switzerland.
  • Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Massingham L; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI.
  • Schwab J; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI.
  • Quélin C; Clinical Genetics Department, CHU Hôspital Sud, Rennes, France.
  • Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France.
  • Kaplan J; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE.
  • Procopio R; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE.
  • Saunders CJ; Genomic Medicine Center, Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; University of Missouri-Kansas City School of Medicine, Kansas City, MO.
  • Cohen ASA; Genomic Medicine Center, Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; University of Missouri-Kansas City School of Medicine, Kansas City, MO.
  • Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Segal RJ; Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
  • Kianmahd Shamshoni J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA.
  • Schweitzer D; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA.
  • Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Monaghan K; GeneDx, LLC, Gaithersburg, MD.
  • Palculict TB; GeneDx, LLC, Gaithersburg, MD.
  • Napier MP; GeneDx, LLC, Gaithersburg, MD.
  • Tao A; Columbia University Vagelos College of Physicians and Surgeons, New York, NY.
  • Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France.
  • Moradkhani K; Department of Medical Genetics, CHU Nantes, Nantes, France.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY.
  • Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research, University of Bern, Bern, Switzerland; Bern Center for Precision Medicine (BCPM), University of Bern, Bern, Switzerland. Electronic address: Christiane.zweier@insel.ch.
Genet Med ; 25(7): 100839, 2023 Jul.
Article in En | MEDLINE | ID: mdl-37057675
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Autism Spectrum Disorder / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Autism Spectrum Disorder / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Switzerland