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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Bakhtiari, Somayeh; Kruer, Michael C; Salih, Mustafa A; Kuechler, Alma; Muller, Eric A; Blocker, Karli; Kuismin, Outi; Park, Kristen L; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad.
Afiliação
  • Langhammer F; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Badar R; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
  • Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.
  • Rochman M; Department of Neurology, Thomas Jefferson University, Philadelphia, PA.
  • Ratliff JB; Department of Neurology, Thomas Jefferson University, Philadelphia, PA.
  • Koopmans M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Heron D; Department of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Mignot C; Department of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
  • Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.
  • Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.
  • Ben-Zeev B; The Neurology Department at Sheba Medical Center, Ramat Gan, Israel.
  • Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA.
  • Sherr EH; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA.
  • Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
  • Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
  • 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
  • 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
  • Salih MA; Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, Almughtaribeen University, Khartoum, Sudan.
  • Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Muller EA; Clinical Genetics, Stanford Children's Health, San Francisco, CA.
  • Blocker K; Clinical Genetics, Stanford Children's Health, San Francisco, CA.
  • Kuismin O; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Park KL; Anschutz Medical Campus Department of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO.
  • Kochhar A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
  • Brown K; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO.
  • Ramanathan S; Division of Genetics, Loma Linda University Health, San Bernardino, CA.
  • Clark RD; Division of Genetics, Loma Linda University Health, San Bernardino, CA.
  • Elgizouli M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Melikishvili G; Department of pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
  • Tabatadze N; Department of pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA.
  • Ong J; Child Neurology Consultants of Austin, Austin, TX.
  • Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Bevot A; Department of Pediatric Neurology and Developmental Medicine, Children's Hospital, University Hospital of Tuebingen, Tuebingen, Germany.
  • von Wintzingerode L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Hennig Y; Department of Pediatrics, University of Leipzig Medical Center, Leipzig, Germany.
  • Goldenberg P; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA.
  • Al Alam C; Pediatric Neurology Department, American Center for Psychiatry and Neurology, Abu Dhabi, United Arab Emirates; Pediatric Neurology department, Haykel Hospital, El Koura, Lebanon.
  • Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Mor
  • Boulouiz R; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Bellaoui M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Amrani R; Department of Neonatology, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Al Mutairi F; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Genet Med ; 25(8): 100885, 2023 08.
Article em En | MEDLINE | ID: mdl-37165955
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça