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Paper Details

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
17
2022
CYCLIN E1, CYCLIN E1/2, CYCLIN E2, Drosophila, Drosophila ortholog, F-Box protein, F-box and WD-repeat-domain-containing 7, FBXW7, FBXW7 missense variants, FBXW7 neurodevelopmental syndrome, NOTCH, Neurodevelopmental disorders, WD40 domain, abnormalities of brain architecture and/or function, archipelago, cultured cells, developmental delay, frameshift, gastrointestinal issues, germline monoallelic chromosomal deletions, hypotonia, intellectual disability, missense variants, neurodevelopmental disorder, neurodevelopmental syndrome, recombinant, splice-site, structural abnormalities, tumor, ubiquitin
Author NameAffiliation
Susan WalkerThe Hospital for Sick Children
Sally Ann Lynch
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Orrin DevinskyNew York University Langone Medical Center
Tony RoscioliPrince of Wales Private Hospital, Prince of Wales Clinical School, University of New South Wales, Sydney Children's Hospital
Suzanna E L TemplePrince of Wales Private Hospital, Prince of Wales Clinical School, University of New South Wales, Sydney Children's Hospital
Ingrid E SchefferMurdoch Children's Research Institute, University of Melbourne, Australia Epilepsy Research Centre
Lindsay Fernández-Rhodes
Michael S HildebrandMurdoch Children's Research Institute, Australia Epilepsy Research Centre, University of Melbourne
Melanie BahloThe Walter and Eliza Hall Institute for Medical Research, University of Melbourne
Patrick Sulem
Kari StefanssonUniversity of Iceland
Kari StefanssonUniversity of Iceland
Simone MandelstamUniversity of Melbourne, The Royal Children's Hospital
Hugoline G de HaanAmsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam
John ChristodoulouMurdoch Children's Research Institute, University of Melbourne, Australia Victorian Clinical Genetics Services
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