Your browser doesn't support javascript.
loading
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed A M; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin.
Affiliation
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India.
  • Hardigan AA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India.
  • Alawi M; Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Center for Bioinformatics, University of Hamburg, 20246 Hamburg, Germany; Virus Genomics, Heinrich Pette Institute, Leibniz Institute for Experimental Virology, 20246 Hamburg, Germany.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, 500001 Hyderabad, Telangana, India.
  • Brady L; Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada.
  • Tarnopolsky M; Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada.
  • Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92123, USA; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA 92123, USA.
  • Ceulemans S; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA 92123, USA.
  • Bebin M; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL35294, USA.
  • Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Lose EJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Primiano M; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
  • Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bainbridge M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Drummond-Borg M; Cook Children's Genetic Clinic, Fort Worth, TX 76102, USA.
  • Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, 15258 Al-Ain, United Arab Emirates.
  • Saleh MAM; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, 11564 Riyadh, Saudi Arabia.
  • Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France.
  • Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France.
  • Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France; INSERM UMR-S 957, 44035 Nantes, France.
  • Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.
Am J Hum Genet ; 100(1): 117-127, 2017 Jan 05.
Article in En | MEDLINE | ID: mdl-28017373
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Ataxia / Transcription Factors / Transcription, Genetic / Face / Neurodevelopmental Disorders / Language Development Disorders / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Ataxia / Transcription Factors / Transcription, Genetic / Face / Neurodevelopmental Disorders / Language Development Disorders / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article