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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenael; Ljungblad, Ulf W; Brenman, Leslie Manace; Martinez-Agosto, Julian A; Might, Matthew; Miller, David T; Minks, Kelly Q; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F; Parant, John M; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone F; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.
Afiliación
  • Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Dang NDP; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA.
  • Huber H; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany.
  • Murry JB; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Abramson J; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.
  • Althoff T; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA.
  • Banka S; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA.
  • Baynam G; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Bearden D; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Beleza-Meireles A; Faculty of Medicine and Health Sciences, University of Western Australia, Perth, WA, Australia.
  • Benke PJ; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.
  • Berland S; Telethon Kids Institute, Perth, Australia.
  • Bierhals T; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA.
  • Bilan F; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK.
  • Bindoff LA; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
  • Braathen GJ; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.
  • Busk ØL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Chenbhanich J; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
  • Denecke J; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France.
  • Escobar LF; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
  • Estes C; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
  • Fleischer J; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
  • Groepper D; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
  • Haaxma CA; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Hempel M; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.
  • Holler-Managan Y; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.
  • Houge G; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.
  • Jackson A; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA.
  • Kellogg L; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA.
  • Keren B; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Kiraly-Borri C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Kraus C; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Kubisch C; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.
  • Le Guyader G; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Ljungblad UW; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Brenman LM; Kaiser Permanente Sacramento, Sacramento, USA.
  • Martinez-Agosto JA; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Might M; Genetic Services of Western Australia, Perth, Western Australia, 6008, Australia.
  • Miller DT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.
  • Minks KQ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Moghaddam B; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.
  • Nava C; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France.
  • Nelson SF; Department of Pediatrics, Vestfold Hospital, 3116, Tønsberg, Norway.
  • Parant JM; Department of Genetics, Kaiser Permanente Northern California, Oakland, USA.
  • Prescott T; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.
  • Rajabi F; Semel Institute of Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
  • Randrianaivo H; Department of Pediatrics, Division of Medical Genetics at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Reiter SF; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.
  • Schuurs-Hoeijmakers J; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA.
  • Shieh PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Genome Med ; 13(1): 90, 2021 05 21.
Article en En | MEDLINE | ID: mdl-34020708
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / ARN Helicasas / Estudios de Asociación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / ARN Helicasas / Estudios de Asociación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido