Undiagnosed rare disease clinic identifies a novel <i>UBE3A</i> variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey
R Bruns(Centers for Disease Control and Prevention), Francesco Vetrini(Indiana University – Purdue University Indianapolis), Wilfredo Torres(Indiana University School of Medicine), Kayla Treat(Indiana University – Purdue University Indianapolis), Abdul Nasır(Second Affiliated Hospital of Zhengzhou University), Khurram Liaqat(Indiana University School of Medicine), Vinaya Murthy(Indiana University School of Medicine), Erin Conboy(Indiana University – Purdue University Indianapolis), Lili Mantcheva(Indiana University School of Medicine)
Cited by 2
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
Use of Exome Sequencing for Infants in Intensive Care Units
|Archives of Pediatrics and Adolescent Medicine|2017|435
Reanalysis of Clinical Exome Sequencing Data
|New England Journal of Medicine|2019|303