Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Author:

Stephenson Sarah E.M.,Costain Gregory,Blok Laura E.R.,Silk Michael A.,Nguyen Thanh Binh,Dong Xiaomin,Alhuzaimi Dana E.,Dowling James J.,Walker Susan,Amburgey Kimberly,Hayeems Robin Z.,Rodan Lance H.,Schwartz Marc A.,Picker Jonathan,Lynch Sally A.,Gupta Aditi,Rasmussen Kristen J.,Schimmenti Lisa A.,Klee Eric W.,Niu Zhiyv,Agre Katherine E.,Chilton Ilana,Chung Wendy K.,Revah-Politi Anya,Au P.Y. Billie,Griffith Christopher,Racobaldo Melissa,Raas-Rothschild Annick,Ben Zeev Bruria,Barel Ortal,Moutton Sebastien,Morice-Picard Fanny,Carmignac Virginie,Cornaton Jenny,Marle Nathalie,Devinsky Orrin,Stimach Chandler,Wechsler Stephanie Burns,Hainline Bryan E.,Sapp Katie,Willems Marjolaine,Bruel Ange-line,Dias Kerith-Rae,Evans Carey-Anne,Roscioli Tony,Sachdev Rani,Temple Suzanna E.L.,Zhu Ying,Baker Joshua J.,Scheffer Ingrid E.,Gardiner Fiona J.,Schneider Amy L.,Muir Alison M.,Mefford Heather C.,Crunk Amy,Heise Elizabeth M.,Millan Francisca,Monaghan Kristin G.,Person Richard,Rhodes Lindsay,Richards Sarah,Wentzensen Ingrid M.,Cogné Benjamin,Isidor Bertrand,Nizon Mathilde,Vincent Marie,Besnard Thomas,Piton Amelie,Marcelis Carlo,Kato Kohji,Koyama Norihisa,Ogi Tomoo,Goh Elaine Suk-Ying,Richmond Christopher,Amor David J.,Boyce Jessica O.,Morgan Angela T.,Hildebrand Michael S.,Kaspi Antony,Bahlo Melanie,Friðriksdóttir Rún,Katrínardóttir Hildigunnur,Sulem Patrick,Stefánsson Kári,Björnsson Hans Tómas,Mandelstam Simone,Morleo Manuela,Mariani Milena,Scala Marcello,Accogli Andrea,Torella Annalaura,Capra Valeria,Wallis Mathew,Jansen Sandra,Waisfisz Quinten,de Haan Hugoline,Sadedin Simon,Lim Sze Chern,White Susan M.,Ascher David B.,Schenck Annette,Lockhart Paul J.,Christodoulou John,Tan Tiong YangORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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