Michael Yourshaw
University of California, Los Angeles(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Celiac Disease Research and Management, Digestive system and related health, Cancer Genomics and Diagnostics, Peptidase Inhibition and Analysis
Most-Cited Works
- → Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders(2014)978 cited
- → Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration(2012)259 cited
- → Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort(2013)152 cited
- → DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer(2019)149 cited
- → Pontocerebellar hypoplasia type 1(2013)105 cited
- → Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia(2016)97 cited
- → EPCAMmutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome(2018)79 cited
- → Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways(2013)43 cited
- → Loss of ADAM17 is associated with severe multiorgan dysfunction(2015)41 cited
- → Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins(2014)39 cited