Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ... JAMA Network Open 1 (5), e182140-e182140, 2018 | 197 | 2018 |
Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population R Dershem, CM Gorvin, RPR Metpally, S Krishnamurthy, DT Smelser, ... The American Journal of Human Genetics 106 (6), 734-747, 2020 | 51 | 2020 |
Assessment of probable opioid use disorder using electronic health record documentation SA Palumbo, KM Adamson, S Krishnamurthy, S Manoharan, D Beiler, ... JAMA network open 3 (9), e2015909-e2015909, 2020 | 48 | 2020 |
A community resource of experimental data for NMR/X‐ray crystal structure pairs JK Everett, R Tejero, SBK Murthy, TB Acton, JM Aramini, MC Baran, ... Protein science 25 (1), 30-45, 2016 | 29 | 2016 |
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that … CM Gorvin, R Metpally, VJ Stokes, FM Hannan, SB Krishnamurthy, ... Human Molecular Genetics 27 (5), 901-911, 2018 | 21 | 2018 |
Hidden Burden of Electronic Health Record‐Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care P Patel, Y Hu, A Kolinovsky, Z Geng, J Ruhl, S Krishnamurthy, ... Journal of the American Heart Association 8 (13), e011822, 2019 | 20 | 2019 |
Identifying genetic associations with variability in metabolic health and blood count laboratory values: diving into the quantitative traits by leveraging longitudinal data … SS Verma, AM Lucas, DR Lavage, JB Leader, R Metpally, ... PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017, 533-544, 2017 | 16 | 2017 |
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors R Dershem, RPR Metpally, K Jeffreys, S Krishnamurthy, DT Smelser, ... Journal of Biological Chemistry 294 (48), 18109-18121, 2019 | 13* | 2019 |
Genomic Disorders in CKD across the Lifespan M Verbitsky, S Krishnamurthy, P Krithivasan, D Hughes, A Khan, ... Journal of the American Society of Nephrology 34 (4), 607-618, 2023 | 6 | 2023 |
The imperative of clinical and molecular research on neonatal opioid withdrawal syndrome VTWHB Raghu P. Metpally, Sarath Krishnamurthy, Karena M. Moran, Andrew E ... Molecular Psychiatry 24, 1568–1571, 2019 | 6 | 2019 |
Clinical and genetic characteristics of CKD patients with high-risk APOL1 genotypes MD Elliott, M Marasa, E Cocchi, N Vena, JY Zhang, A Khan, SK Murthy, ... Journal of the American Society of Nephrology 34 (5), 909-919, 2023 | 5 | 2023 |
A framework for integrated clinical risk assessment using population sequencing data JD Fife, T Tran, JR Bernatchez, KE Shepard, C Koch, AP Patel, AC Fahed, ... medRxiv, 2021.08. 12.21261563, 2021 | 4 | 2021 |
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease E Zhao, M Bomback, A Khan, S Krishna Murthy, D Solowiejczyk, NL Vora, ... Prenatal Diagnosis, 2024 | 1 | 2024 |
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population JE Miller, RP Metpally, TN Person, S Krishnamurthy, VR Dasari, ... BMC medical genomics 12, 1-12, 2019 | 1 | 2019 |
Anti-proliferative and cytotoxic effects of verteporfin in endometrial cancer cells RP Gogoi, JM Castañeda-Gill, RP Metpally, SB Krishnamurthy, ... Cancer Research 77 (13_Supplement), 117-117, 2017 | 1 | 2017 |
Genetic testing in kidney transplantation helped develop a morbidity gene panel for evaluation of kidney transplant recipients BM Ma, N Elefant, M Tedesco, K Bogyo, N Vena, SK Murthy, SA Bheda, ... Kidney International, 2024 | | 2024 |
Calcium Sensing Receptor Common Variants Influence the Effects of Serum Calcium on Coronary Artery Disease Risks DT Smelser, FM Hannan, RPR Metpally, S Krishnamurthy, DJ Carey, ... bioRxiv, 644559, 2019 | | 2019 |
Sarcomeric Variants in an Imaging-Based, Cardiovascular Phenotype From the Discovehr Cohort P Patel, Y Hu, S Krishnamurthy, A Kolinovsky, J Ruhl, A Khan, L Kirchner, ... Circulation 138 (Suppl_1), A16505-A16505, 2018 | | 2018 |
Hypertrophic Cardiomyopathy in the Geisinger Population: Genetic Architecture and Phenotype P Patel, SB Krishnamurthy, S Pinnamaneni, A Kolinovsky, S Hussain, ... Circulation 136 (suppl_1), A16237-A16237, 2017 | | 2017 |
UNM Digital Repositor y M Verbitsky, S Krishnamurthy, P Krithivasan, D Hughes, A Khan | | |