Author details

Full Name

Uyenlinh L Mirshahi

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36692560	Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.	JAMA	2023
36257325	Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.	Am J Hum Genet	2022
36090499	Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.	Kidney Int Rep	2022
33630087	A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.	JAMA Netw Open	2021
31508243	Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.	NPJ Genom Med	2019
30449888	Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.	Genet Med	2019
29752375	Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the <i>KCNH2</i>-Encoded Kv11.1 Channel.	Circ Arrhythm Electrophysiol	2018
29899519	Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.	Nat Commun	2018
29562163	A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.	N Engl J Med	2018
27358062	A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE Îµ4 allele carriers.	BMC Genomics	2016
26866580	The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.	Genet Med	2016
25714173	Mutations in NPC1L1 and coronary heart disease.	N Engl J Med	2015
24705671	Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.	PLoS One	2014
23159449	Weight-independent effects of roux-en-Y gastric bypass on glucose homeostasis via melanocortin-4 receptors in mice and humans.	Gastroenterology	2013
23671286	A conserved mechanism for gating in an ionotropic glutamate receptor.	Journal of Biological Chemistry	2013
22207761	Synergistic roles for G-protein Î³3 and Î³7 subtypes in seizure susceptibility as revealed in double knock-out mice.	Journal of Biological Chemistry	2012
21976721	The MC4R(I251L) allele is associated with better metabolic status and more weight loss after gastric bypass surgery.	J Clin Endocrinol Metab	2011
21311511	High allelic burden of four obesity SNPs is associated with poorer weight loss outcomes following gastric bypass surgery.	Obesity (Silver Spring)	2011
21044958	G protein {beta}{gamma} gating confers volatile anesthetic inhibition to Kir3 channels.	Journal of Biological Chemistry	2010
18723823	Coassembly of different sulfonylurea receptor subtypes extends the phenotypic diversity of ATP-sensitive potassium (KATP) channels.	Molecular Pharmacology	2008
18202303	Arachidonic acid activates Kir2.3 channels by enhancing channel-phosphatidyl-inositol 4,5-bisphosphate interactions.	Molecular Pharmacology	2008