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Selected publications:

  1. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569.

  2. Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity. Dalton R, Lee SB, Claw KG, Prasad B, Phillips BR, Shen DD, Wong LH, Fade M, McDonald MG, Dunham MJ, Fowler DM, Rettie AE, Schuetz E, Thornton TA, Nickerson DA, Gaedigk A, Thummel KE, Woodahl EL. Clin Transl Sci. 2020 Jan;13(1):147-156.

  3. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Genet Med. 2020 Feb;22(2):427-431.

  4. Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences. Lee SB, Wheeler MM, Thummel KE, Nickerson DA. Clin Pharmacol Ther. 2019 Dec;106(6):1328-1337.

  5. Discovery of common and rare genetic risk variants for colorectal cancer. Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, et. al. Nat Genet. 2019 Jan;51(1):76-87.

  6. Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts. Wheeler MM, Lannert KW, Huston H, Fletcher SN, Harris S, Teramura G, Maki HJ, Frazar C, Underwood JG, Shaffer T, Correa A, Delaney M, Reiner AP, Wilson JG, Nickerson DA, Johnsen JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Genet Med. 2019 Feb;21(2):477-486.

For a complete listing of publications - PubMed Query