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Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Abul-Husn NS, et al. Among authors: metpally rp. Science. 2016 Dec 23;354(6319):aaf7000. doi: 10.1126/science.aaf7000. Science. 2016. PMID: 28008010
IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.
Verma SS, Lucas AM, Lavage DR, Leader JB, Metpally R, Krishnamurthy S, Dewey F, Borecki I, Lopez A, Overton J, Penn J, Reid J, Pendergrass SA, Breitwieser G, Ritchie MD. Verma SS, et al. Pac Symp Biocomput. 2017;22:533-544. doi: 10.1142/9789813207813_0049. Pac Symp Biocomput. 2017. PMID: 27897004 Free article.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
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 impair calcium-sensing receptor signalling.
Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV. Gorvin CM, et al. Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010. Hum Mol Genet. 2018. PMID: 29325022 Free PMC article.
Genetic susceptibility to cerebrovascular disease: A systematic review.
Griessenauer CJ, Farrell S, Sarkar A, Zand R, Abedi V, Holland N, Michael A, Cummings CL, Metpally R, Carey DJ, Goren O, Martin N, Hendrix P, Schirmer CM. Griessenauer CJ, et al. J Cereb Blood Flow Metab. 2018 Nov;38(11):1853-1871. doi: 10.1177/0271678X18797958. Epub 2018 Sep 5. J Cereb Blood Flow Metab. 2018. PMID: 30182779 Free PMC article.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Manickam K, et al. Among authors: metpally rp. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140. JAMA Netw Open. 2018. PMID: 30646163 Free PMC article.
Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population.
Miller JE, Metpally RP, Person TN, Krishnamurthy S, Dasari VR, Shivakumar M, Lavage DR, Cook AM, Carey DJ, Ritchie MD, Kim D, Gogoi R; DiscovEHR collaboration. Miller JE, et al. Among authors: metpally rp. BMC Med Genomics. 2019 May 22;12(1):65. doi: 10.1186/s12920-019-0523-6. BMC Med Genomics. 2019. PMID: 31118041 Free PMC article.
Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.
Patel P, Hu Y, Kolinovsky A, Geng Z, Ruhl J, Krishnamurthy S, deRichemond C, Khan A, Kirchner HL, Metpally R, Jones LK, Sturm AC, Carey D, Snyder S, Williams MS, Mehra VC. Patel P, et al. J Am Heart Assoc. 2019 Jul 2;8(13):e011822. doi: 10.1161/JAHA.118.011822. Epub 2019 Jun 29. J Am Heart Assoc. 2019. PMID: 31256702 Free PMC article.
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein-coupled receptors.
Dershem R, Metpally RPR, Jeffreys K, Krishnamurthy S, Smelser DT, Hershfinkel M; Regeneron Genetics Center; Carey DJ, Robishaw JD, Breitwieser GE. Dershem R, et al. J Biol Chem. 2019 Nov 29;294(48):18109-18121. doi: 10.1074/jbc.RA119.009253. Epub 2019 Oct 18. J Biol Chem. 2019. PMID: 31628190 Free PMC article.
40 results