| 1 | Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project. (Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Vetrini F, Kalman LV) J Mol Diagn 2021 Aug;23(8):952-958 8 Citations |
| 1 | SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. (Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW) Invest Ophthalmol Vis Sci 2020 Oct 01;61(12):6 24 Citations |
| 3 | Racial and Ethnic Variation Associated With Human Papillomavirus Genotype in Anal Dysplasia. (Mather TL, Hu KY, Rein LE, Szabo A, Lundeen SJ, Peterson CY, Ludwig KA, Ridolfi TJ) J Surg Res 2020 Dec;256:311-316 2 Citations |
| 4 | p38γ MAPK Is Essential for Aerobic Glycolysis and Pancreatic Tumorigenesis. (Wang F, Qi XM, Wertz R, Mortensen M, Hagen C, Evans J, Sheinin Y, James M, Liu P, Tsai S, Thomas J, Mackinnon A, Dwinell M, Myers CR, Bartrons Bach R, Fu L, Chen G) Cancer Res 2020 Aug 15;80(16):3251-3264 41 Citations |
| 1 | Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. (Kowalski MH, Qian H, Hou Z, Rosen JD, Tapia AL, Shan Y, Jain D, Argos M, Arnett DK, Avery C, Barnes KC, Becker LC, Bien SA, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Buyske S, Cai J, Cho MH, Choi SH, Choquet H, Cupples LA, Cushman M, Daya M, de Vries PS, Ellinor PT, Faraday N, Fornage M, Gabriel S, Ganesh SK, Graff M, Gupta N, He J, Heckbert SR, Hidalgo B, Hodonsky CJ, Irvin MR, Johnson AD, Jorgenson E, Kaplan R, Kardia SLR, Kelly TN, Kooperberg C, Lasky-Su JA, Loos RJF, Lubitz SA, Mathias RA, McHugh CP, Montgomery C, Moon JY, Morrison AC, Palmer ND, Pankratz N, Papanicolaou GJ, Peralta JM, Peyser PA, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith NL, Taylor KD, Thornton TA, Tiwari HK, Tracy RP, Wang T, Weiss ST, Weng LC, Wiggins KL, Wilson JG, Yanek LR, Zöllner S, North KE, Auer PL, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Raffield LM, Reiner AP, Li Y) PLoS Genet 2019 Dec;15(12):e1008500 145 Citations |
| 2 | Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. (Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV) J Mol Diagn 2019 Nov;21(6):1034-1052 45 Citations |
| 2 | Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. (Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE) Genet Med 2020 Jan;22(1):232-233 8 Citations |
| 1 | Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia. (McMaster ML, Berndt SI, Zhang J, Slager SL, Li SA, Vajdic CM, Smedby KE, Yan H, Birmann BM, Brown EE, Smith A, Kleinstern G, Fansler MM, Mayr C, Zhu B, Chung CC, Park JH, Burdette L, Hicks BD, Hutchinson A, Teras LR, Adami HO, Bracci PM, McKay J, Monnereau A, Link BK, Vermeulen RCH, Ansell SM, Maria A, Diver WR, Melbye M, Ojesina AI, Kraft P, Boffetta P, Clavel J, Giovannucci E, Besson CM, Canzian F, Travis RC, Vineis P, Weiderpass E, Montalvan R, Wang Z, Yeager M, Becker N, Benavente Y, Brennan P, Foretova L, Maynadie M, Nieters A, de Sanjose S, Staines A, Conde L, Riby J, Glimelius B, Hjalgrim H, Pradhan N, Feldman AL, Novak AJ, Lawrence C, Bassig BA, Lan Q, Zheng T, North KE, Tinker LF, Cozen W, Severson RK, Hofmann JN, Zhang Y, Jackson RD, Morton LM, Purdue MP, Chatterjee N, Offit K, Cerhan JR, Chanock SJ, Rothman N, Vijai J, Goldin LR, Skibola CF, Caporaso NE) Nat Commun 2018 Oct 10;9(1):4182 12 Citations |
| 1 | Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience. (Perez Botero J, Coon LM, Majerus JA, Chen D, Pruthi RK) Semin Thromb Hemost 2018 Apr;44(3):287-292 2 Citations |
| 1 | Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. (Leo PJ, Madeleine MM, Wang S, Schwartz SM, Newell F, Pettersson-Kymmer U, Hemminki K, Hallmans G, Tiews S, Steinberg W, Rader JS, Castro F, Safaeian M, Franco EL, Coutlée F, Ohlsson C, Cortes A, Marshall M, Mukhopadhyay P, Cremin K, Johnson LG, Trimble CL, Garland S, Tabrizi SN, Wentzensen N, Sitas F, Little J, Cruickshank M, Frazer IH, Hildesheim A, Brown MA) PLoS Genet 2017 Aug;13(8):e1006866 77 Citations |
| 1 | Evaluation of IFITM3 rs12252 Association With Severe Pediatric Influenza Infection. (Randolph AG, Yip WK, Allen EK, Rosenberger CM, Agan AA, Ash SA, Zhang Y, Bhangale TR, Finkelstein D, Cvijanovich NZ, Mourani PM, Hall MW, Su HC, Thomas PG, Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Pediatric Influenza (PICFLU) Investigators, Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Pediatric Influenza (PICFLU) Investigators) J Infect Dis 2017 Jul 01;216(1):14-21 44 Citations |
| 1 | Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease. (Gammal RS, Crews KR, Haidar CE, Hoffman JM, Baker DK, Barker PJ, Estepp JH, Pei D, Broeckel U, Wang W, Weiss MJ, Relling MV, Hankins J) Pediatrics 2016 Jul;138(1) 79 Citations |
| 1 | Comparison of genome sequencing and clinical genotyping for pharmacogenes. (Yang W, Wu G, Broeckel U, Smith CA, Turner V, Haidar CE, Wang S, Carter R, Karol SE, Neale G, Crews KR, Yang JJ, Mullighan CG, Downing JR, Evans WE, Relling MV) Clin Pharmacol Ther 2016 Oct;100(4):380-8 40 Citations |
| 1 | Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H) N Engl J Med 2016 Mar 24;374(12):1134-44 380 Citations |
| 1 | Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. (Schick UM, Jain D, Hodonsky CJ, Morrison JV, Davis JP, Brown L, Sofer T, Conomos MP, Schurmann C, McHugh CP, Nelson SC, Vadlamudi S, Stilp A, Plantinga A, Baier L, Bien SA, Gogarten SM, Laurie CA, Taylor KD, Liu Y, Auer PL, Franceschini N, Szpiro A, Rice K, Kerr KF, Rotter JI, Hanson RL, Papanicolaou G, Rich SS, Loos RJ, Browning BL, Browning SR, Weir BS, Laurie CC, Mohlke KL, North KE, Thornton TA, Reiner AP) Am J Hum Genet 2016 Feb 04;98(2):229-42 57 Citations |
| 2 | Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. (Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV) J Mol Diagn 2016 Jan;18(1):109-23 103 Citations |
| 1 | Diversity of human papillomavirus in the anal canal of men: the HIM Study. (Sichero L, Nyitray AG, Nunes EM, Nepal B, Ferreira S, Sobrinho JS, Baggio ML, Galan L, Silva RC, Lazcano-Ponce E, Giuliano AR, Villa LL, HIM Study Group) Clin Microbiol Infect 2015 May;21(5):502-9 17 Citations |
| 1 | Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. (Hu YJ, Li Y, Auer PL, Lin DY) Proc Natl Acad Sci U S A 2015 Jan 27;112(4):1019-24 12 Citations |
| 1 | NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. (Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB, International Parkinson's Disease Genomics Consortium (IPDGC), Parkinson's Disease meta-analysis consortium) Neurobiol Aging 2015 Mar;36(3):1605.e7-12 78 Citations |
| 1 | Genetic predictors of cervical dysplasia in African American HIV-infected women: ACTG DACS 268. (Cespedes MS, Kerns SL, Holzman RS, McLaren PJ, Ostrer H, Aberg JA) HIV Clin Trials 2013;14(6):292-302 1 Citation |
| 1 | Human platelet antigens - 2013. (Curtis BR, McFarland JG) Vox Sang 2014 Feb;106(2):93-102 119 Citations |
| 1 | The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. (Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, Pereira NL, Roden DM, Johnson JA, Klein TE, Pharmacogenomics Research Network Translational Pharmacogenetics Program Group, Shuldiner AR, Vesely M, Robinson SW, Ambulos N Jr, Stass SA, Kelemen MD, Brown LA, Pollin TI, Beitelshees AL, Zhao RY, Pakyz RE, Palmer K, Alestock T, O'Neill C, Maloney K, Branham A, Sewell D, Relling MV, Crews K, Hoffman J, Cross S, Haidar C, Baker D, Hicks JK, Bell G, Greeson F, Gaur A, Reiss U, Huettel A, Cheng C, Gajjar A, Pappo A, Howard S, Hudson M, Pui CH, Jeha S, Evans WE, Broeckel U, Altman RB, Gong L, Whirl-Carrillo M, Klein TE, Sadee W, Manickam K, Sweet KM, Embi PJ, Roden D, Peterson J, Denny J, Schildcrout J, Bowton E, Pulley J, Beller M, Mitchell J, Danciu I, Price L, Pereira NL, Weinshilboum R, Wang L, Johnson JA, Nelson D, Clare-Salzler M, Elsey A, Burkley B, Langaee T, Liu F, Nessl D, Dong HJ, Lesko L, Freimuth RR, Chute CG) Clin Pharmacol Ther 2013 Aug;94(2):207-10 141 Citations |
| 1 | Gene variants in angiogenesis and lymphangiogenesis and cutaneous melanoma progression. (Park JY, Amankwah EK, Anic GM, Lin HY, Walls B, Park H, Krebs K, Madden M, Maddox K, Marzban S, Fang S, Chen W, Lee JE, Wei Q, Amos CI, Messina JL, Sondak VK, Sellers TA, Egan KM) Cancer Epidemiol Biomarkers Prev 2013 May;22(5):827-34 17 Citations |
| 1 | Differential haplotype amplification leads to misgenotyping of heterozygote as homozygote when using single nucleotide mismatch primer. (De Sarkar N, Majumder M, Roy B) Electrophoresis 2012 Dec;33(23):3564-73 2 Citations |
| 1 | Copy number variation analysis in 98 individuals with PHACE syndrome. (Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U) J Invest Dermatol 2013 Mar;133(3):677-684 24 Citations |
| 1 | Concordance of DMET plus genotyping results with those of orthogonal genotyping methods. (Fernandez CA, Smith C, Yang W, Lorier R, Crews KR, Kornegay N, Hicks JK, Stewart CF, Kawedia JD, Ramsey LB, Liu C, Evans WE, Relling MV, Broeckel U) Clin Pharmacol Ther 2012 Sep;92(3):360-5 37 Citations |
