Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah Stephenson(Boston Children's Hospital), Ingrid E. Scheffer(The University of Melbourne), Ilana Chilton(Columbia University Irving Medical Center), Bryan E. Hainline(Indiana University Health), Susan Walker(Genomics England), Melissa Racobaldo(University of South Florida), Lisa A. Schimmenti(University of Minnesota), Chandler L. Stimach(Emory Healthcare), Michael Silk(Baker Heart and Diabetes Institute), Wendy K. Chung(Oregon Health & Science University), Ping Yee Billie Au(University of Calgary), Jonathan Picker(Texas A&M Health Science Center), Kristen Rasmussen(Mayo Clinic in Arizona), Tony Roscioli(New South Wales Department of Health), Joshua Baker(Boston Children's Hospital), Annick Raas‐Rothschild(Hebrew University of Jerusalem), Kerith‐Rae Dias(Queen Mary University of London), Kimberly Amburgey(University of Toronto), Eric W. Klee(Mayo Clinic), Robin Z. Hayeems(University of Toronto), Rani Sachdev(Victorian Clinical Genetics Services), Dana E. Alhuzaimi(Murdoch Children's Research Institute), Fanny Morice‐Picard(Hôpital Saint-André), Laura E.R. Blok(Radboud University Nijmegen), Marjolaine Willems(Université de Montpellier), Gregory Costain(University of Toronto), Bruria Ben Zeev(Tel Aviv University), Katherine Agre(Mayo Clinic in Florida), Suzanna E.L. Temple(UNSW Sydney), Stephanie Burns Wechsler(Pediatrics and Genetics), Xiaomin Dong(Murdoch Children's Research Institute), Carey‐Anne Evans(New South Wales Department of Health), Ange‐Line Bruel(Inserm), Virginie Carmignac(Inserm), Nathalie Marle(CHU Dijon Bourgogne), James J. Dowling, Zhiyv Niu(Mayo Clinic), Marc A. Schwartz(University of Washington), Ortal Barel(Ben-Gurion University of the Negev), Sébastien Moutton(Maison des Sciences sociales et des Humanités de Dijon), Lance H. Rodan(Boston Children's Hospital), Sally Ann Lynch(University College Dublin), Christopher Griffith(University of South Florida), Anya Revah‐Politi(A&G Pharmaceutical (United States)), Katie Sapp(Indiana University Health), Thanh Nguyen(The University of Queensland), Ying Zhu(ZheJiang Academy of Agricultural Sciences), Jenny Cornaton(Maison des Sciences sociales et des Humanités de Dijon), Aditi Gupta(Mayo Clinic), Orrin Devinsky(New York University)
Cited by 43
Related Papers
ILAE Official Report: A practical clinical definition of epilepsy
|Epilepsia|2014|5.9k
<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology
|Epilepsia|2017|4.9k
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Pediatric Pulmonary Hypertension
|Circulation|2015|1.1k