<i>De novo</i> and inherited variants in <i>DDX39B</i> cause a novel neurodevelopmental syndrome
Kevin T. Booth(Indiana University School of Medicine), Francesco Vetrini(Indiana University – Purdue University Indianapolis), Ty C. Lynnes(Indiana University – Purdue University Indianapolis), Shelagh Joss(Oulu University Hospital), Kayla Treat(Indiana University – Purdue University Indianapolis), Celanie K. Christensen(Riley Hospital for Children), Sandra Y.Y. Wong(Chinese University of Hong Kong), Kerry White(Indiana University Health), Lorenzo Graziani(Scuola Internazionale Superiore di Studi Avanzati), Hugo J. Bellen(Baylor College of Medicine), Brian Hon‐Yin Chung(Long Island Jewish Medical Center), Sharayu Jangam(Baylor College of Medicine), Christopher Chun Yu Mak(Chinese University of Hong Kong), Yao Ruan(University of Hong Kong), Daniela Iancu(Wessex Regional Genetics Laboratory), Erin Conboy(Indiana University – Purdue University Indianapolis), Shinya Yamamoto(Kyoto University), Remo Sanges(Stazione Zoologica Anton Dohrn), Alessia Soldano(VIB-KU Leuven Center for Cancer Biology), Sally Ann Lynch(University College Dublin), Michael F. Wangler(Baylor College of Medicine), Julia Batista(University of Plymouth), Anna Ka Yee Kwong(University of Hong Kong), Anskar Y.H. Leung(Chinese University of Hong Kong), Mandy Ho Yin Tsang(Chinese University of Hong Kong), Oguz Kanca(University of California, Los Angeles), Martin MC Chui(University of Hong Kong), Sureni V. Mullegama
Cited by 9
Related Papers
TFEB Links Autophagy to Lysosomal Biogenesis
|Science|2011|3.3k
A lysosome‐to‐nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
|The EMBO Journal|2012|1.9k
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop
|Nature Cell Biology|2013|1k