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Uyenlinh Mirshahi, PhD
Uyenlinh Mirshahi, PhD
Verified email at geisinger.edu
Title
Cited by
Cited by
Year
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
NS Abul-Husn, X Cheng, AH Li, Y Xin, C Schurmann, P Stevis, Y Liu, ...
New England Journal of Medicine 378 (12), 1096-1106, 2018
7442018
The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research
DJ Carey, SN Fetterolf, FD Davis, WA Faucett, HL Kirchner, U Mirshahi, ...
Genetics in medicine 18 (9), 906-913, 2016
4142016
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
V Gusarova, C O’Dushlaine, TM Teslovich, PN Benotti, T Mirshahi, ...
Nature communications 9 (1), 2252, 2018
1352018
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
DB Beck, DL Bodian, V Shah, UL Mirshahi, J Kim, Y Ding, SJ Magaziner, ...
Jama 329 (4), 318-324, 2023
1302023
High allelic burden of four obesity SNPs is associated with poorer weight loss outcomes following gastric bypass surgery
CD Still, GC Wood, X Chu, R Erdman, CH Manney, PN Benotti, AT Petrick, ...
Obesity 19 (8), 1676-1683, 2011
1212011
Weight-independent effects of roux-en-Y gastric bypass on glucose homeostasis via melanocortin-4 receptors in mice and humans
JF Zechner, UL Mirshahi, S Satapati, ED Berglund, J Rossi, MM Scott, ...
Gastroenterology 144 (3), 580-590. e7, 2013
902013
The MC4R(I251L) Allele Is Associated with Better Metabolic Status and More Weight Loss after Gastric Bypass Surgery
UL Mirshahi, CD Still, KK Masker, GS Gerhard, DJ Carey, T Mirshahi
The Journal of Clinical Endocrinology & Metabolism 96 (12), E2088-E2096, 2011
842011
Synergistic roles for G-protein γ3 and γ7 subtypes in seizure susceptibility as revealed in double knock-out mice
WF Schwindinger, UL Mirshahi, KA Baylor, KM Sheridan, AM Stauffer, ...
Journal of Biological Chemistry 287 (10), 7121-7133, 2012
622012
Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants
BS Moore, UL Mirshahi, EA Yost, AN Stepanchick, MD Bedrin, AM Styer, ...
PLoS One 9 (4), e93629, 2014
562014
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
UL Mirshahi, K Colclough, CF Wright, AR Wood, RN Beaumont, J Tyrrell, ...
The American Journal of Human Genetics 109 (11), 2018-2028, 2022
472022
Coassembly of different sulfonylurea receptor subtypes extends the phenotypic diversity of ATP-sensitive potassium (KATP) channels
A Wheeler, C Wang, K Yang, K Fang, K Davis, AM Styer, U Mirshahi, ...
Molecular pharmacology 74 (5), 1333-1344, 2008
472008
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance, and phenotype
UL Mirshahi, J Kim, AF Best, ZE Chen, Y Hu, JS Haley, A Golden, R Stahl, ...
JAMA Network Open 4 (2), e210112-e210112, 2021
302021
A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers
KL Ayers, UL Mirshahi, AH Wardeh, MF Murray, K Hao, BS Glicksberg, ...
BMC genomics 17, 229-237, 2016
282016
G protein βγ gating confers volatile anesthetic inhibition to Kir3 channels
AM Styer, UL Mirshahi, C Wang, L Girard, T Jin, DE Logothetis, T Mirshahi
Journal of Biological Chemistry 285 (53), 41290-41299, 2010
192010
Arachidonic acid activates Kir2. 3 channels by enhancing channel-phosphatidyl-inositol 4, 5-bisphosphate interactions
C Wang, UL Mirshahi, B Liu, Z Jia, T Mirshahi, H Zhang
Molecular pharmacology 73 (4), 1185-1194, 2008
172008
A conserved mechanism for gating in an ionotropic glutamate receptor
BS Moore, UL Mirshahi, TL Ebersole, T Mirshahi
Journal of Biological Chemistry 288 (26), 18842-18852, 2013
162013
Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
UL Mirshahi, JZ Luo, K Manickam, AH Wardeh, T Mirshahi, MF Murray, ...
Genetics in Medicine 21 (6), 1417-1424, 2019
142019
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
H Zhang, KA Maloney, F Barbetti, SAW Greeley, JLT Kettunen, ...
Diabetes 69 (Supplement_1), 2020
92020
Mutations in NPC1L1 and coronary heart disease
G Silbernagel, I Baumgartner, W März
New England journal of medicine NEJM 372 (9), 882, 2015
92015
Genomic ascertainment for UBA1 variants and VEXAS syndrome: a population-based study
DB Beck, DL Bodian, V Shah, UL Mirshahi, J Kim, Y Ding, NT Strande, ...
medRxiv, 2022.07. 27.22277962, 2022
62022
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