Michael Yourshaw - Concepedia

Author

Michael Yourshaw

University of California, Los Angeles ORCID

Also Known As

M Yourshaw, Michael Yourshaw

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

University of California, Los Angeles Mattel Children's Hospital Hospital for Sick Children University of Maryland, Baltimore SickKids Foundation

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	693
2	Engineering	1	1	39
3	Natural Sciences	1	1	23
4	Cell Biology	1	1	257
5	Data Science	1	1	39

Michael Yourshaw

Publications

Citations

H-Index

Page 1

	Year	Citations
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders Hane Lee, Joshua L. Deignan, Naghmeh Dorrani, JAMA	2014	969
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Nature Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics	2012	257
Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort Iris Lindberg, R. Sergio Solórzano-Vargas, Jiafang Wang, Gastroenterology Other EndocrinopathiesGenetic DisorderInherited Metabolic DiseaseGenetic EpidemiologyPediatrics	2013	152
DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer Kurtis D. Davies, Aprille Lomboy, Carolyn A. Lawrence, Journal of Thoracic Oncology OncologyNucleic Acid BiomarkersCancer DetectionMedicinePathology	2019	148
Pontocerebellar hypoplasia type 1 Sabine Rudnik‐Schöneborn, Jan Senderek, Joanna C. Jen, Neurology	2013	103
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia Jijun Wan, Janos Steffen, Michael Yourshaw, Brain	2016	97
<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Human Mutation	2018	72
Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways Berit Kerner, Aliz R. Rao, Bryce Christensen, Frontiers in Psychiatry	2013	42
Loss of ADAM17 is associated with severe multiorgan dysfunction Robert Bandsma, Harry van Goor, Michael Yourshaw, Human Pathology PathologyDegenerative DiseaseMedicineSevere Multiorgan DysfunctionMolecular Medicine	2015	41
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins Michael Yourshaw, Samantha-Su Taylor, Aliz R. Rao, Briefings in Bioinformatics EngineeringRich AnnotationGeneticsVariant AnnotationsGenomics	2014	39

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