| 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 | 674 | 2018 |
| 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 | 375 | 2016 |
| 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 | 123 | 2018 |
| 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 | 119 | 2011 |
| 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 | 88 | 2013 |
| 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 | 83 | 2011 |
| 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 | 78 | 2023 |
| 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 | 57 | 2012 |
| 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 | 54 | 2014 |
| 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 | 47 | 2008 |
| 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 | 35 | 2022 |
| 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 | 28 | 2021 |
| 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 | 28 | 2016 |
| 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 | 18 | 2010 |
| 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 | 17 | 2008 |
| 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 | 16 | 2013 |
| 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 | 14 | 2019 |
| Mutations in NPC1L1 and coronary heart disease G Silbernagel, I Baumgartner, W März New England journal of medicine NEJM 372 (9), 882, 2015 | 9 | 2015 |
| 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 | 7 | 2020 |
| The penetrance of age-related monogenic disease depends on ascertainment context UL Mirshahi, K Colclough, CF Wright, AR Wood, RN Beaumont, J Tyrrell, ... MedRxiv, 2021.06. 28.21259641, 2021 | 6 | 2021 |
