Concepedia

Michael Yourshaw

MY

15

Publications

2K

Citations

14

H-Index

2012

Active since

Affiliations

University of California, Los Angeles(Current)

Mattel Children's Hospital

Hospital for Sick Children

University of Maryland, Baltimore

SickKids Foundation

Michael Yourshaw is an author at University of California, Los Angeles specializing in medicine, genetics, and pathology.

Top concepts

MedicineGeneticsPathologyMolecular GeneticsGenetic EpidemiologyInherited Metabolic DiseaseOmicsGenomicsOncologyPediatrics

Publications per year

2012–2019

15

Publications

15

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

Iris Lindberg, R. Sergio Solórzano-Vargas, Jiafang Wang et al. · Gastroenterology · 2013 · 152 citations · Full text

Other Endocrinopathies, Genetic Disorder, Inherited Metabolic Disease +10

DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer

Kurtis D. Davies, Aprille Lomboy, Carolyn A. Lawrence et al. · Journal of Thoracic Oncology · 2019 · 148 citations · Full text

Oncology, Nucleic Acid Biomarkers, Cancer Detection +9

Pontocerebellar hypoplasia type 1

Sabine Rudnik‐Schöneborn, Jan Senderek, Joanna C. Jen et al. · Neurology · 2013 · 103 citations · Full text

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