Research Funding

  • September 7, 2015 - August 31, 2020 - Pharmacogenomics of Statin Therapy, Co-Investigator. Sponsor: NIH/NIGMS, Sponsor Award ID: P50GM115318
  • September 30, 2009 - August 31, 2012 - A Resource for Genetic Epidemiology Research in Adult Health and Aging, Principal Investigator. Sponsor: NIH/NIA, Sponsor Award ID: RC2AG036607
  • April 1, 2000 - July 14, 2010 - Pharmacogenetics of Membrane Transporters, Co-Investigator. Sponsor: NIH, Sponsor Award ID: U01GM061390
  • April 1, 1998 - February 28, 2010 - Linkage Disequilibrium and Human Genetic Studies, Co-Investigator. Sponsor: NIH, Sponsor Award ID: P01GM057672

Education

California Institute of Technology, BS, 1972, Mathematics
Univ of Illinois at Urbana, MS, 1973, Mathematics
Univ of California, Los Angeles, PhD, 1979, Biomathematics

Honors & Awards

  • 1972
    University Fellow, University of Illinois
  • 1974
    UCLA Regents Fellow
  • 1978
    UCLA University Fellow
  • 1987
    NIH Research Career Development Award
  • 1987
    American Mental Health Fund Research Award
  • 1993
    Honorary Master of Arts Degree, Yale University
  • 2004
    Curt Stern Award, Amer Society of Human Genetics
  • 2005
    First Interviewee, PLoS Genetics

Selected Publications

  1. Lu B, Sun L, Seraydarian M, Hoffmann TJ, Medina MW, Risch N, Iribarren C, Krauss RM, Oni-Orisan A. Effect of SLCO1B1 T521C on Statin-Related Myotoxicity With Use of Lovastatin and Atorvastatin. Clin Pharmacol Ther. 2021 09; 110(3):733-740.  View on PubMed
  2. Veturi Y, Lucas A, Bradford Y, Hui D, Dudek S, Theusch E, Verma A, Miller JE, Kullo I, Hakonarson H, Sleiman P, Schaid D, Stein CM, Edwards DRV, Feng Q, Wei WQ, Medina MW, Krauss RM, Hoffmann TJ, Risch N, Voight BF, Rader DJ, Ritchie MD. A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. Nat Genet. 2021 07; 53(7):972-981.  View on PubMed
  3. Nussbaum RL, Slotnick RN, Risch NJ. Challenges in providing residual risks in carrier testing. Prenat Diagn. 2021 Aug; 41(9):1049-1056.  View on PubMed
  4. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 Mar 05.  View on PubMed
  5. Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Mol Psychiatry. 2021 Jan 22.  View on PubMed
  6. Jorgenson E, Choquet H, Yin J, Hoffmann TJ, Banda Y, Kvale MN, Risch N, Schaefer C, Asgari MM. Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations. Commun Biol. 2020 12 14; 3(1):765.  View on PubMed
  7. Emami NC, Cavazos TB, Rashkin SR, Cario CL, Graff RE, Tai CG, Mefford JA, Kachuri L, Wan E, Wong S, Aaronson D, Presti J, Habel LA, Shan J, Ranatunga DK, Chao CR, Ghai NR, Jorgenson E, Sakoda LC, Kvale MN, Kwok PY, Schaefer C, Risch N, Hoffmann TJ, Van Den Eeden SK, Witte JS. A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility. Cancer Res. 2021 04 01; 81(7):1695-1703.  View on PubMed
  8. Sieh W, Rothstein JH, Klein RJ, Alexeeff SE, Sakoda LC, Jorgenson E, McBride RB, Graff RE, McGuire V, Achacoso N, Acton L, Liang RY, Lipson JA, Rubin DL, Yaffe MJ, Easton DF, Schaefer C, Risch N, Whittemore AS, Habel LA. Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. Nat Commun. 2020 10 09; 11(1):5116.  View on PubMed
  9. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397.  View on PubMed
  10. Nandakumar P, Lee D, Hoffmann TJ, Ehret GB, Arking D, Ranatunga D, Li M, Grove ML, Boerwinkle E, Schaefer C, Kwok PY, Iribarren C, Risch N, Chakravarti A. Analysis of putative cis-regulatory elements regulating blood pressure variation. Hum Mol Genet. 2020 07 21; 29(11):1922-1932.  View on PubMed
  11. Choquet H, Thai KK, Jiang C, Ranatunga DK, Hoffmann TJ, Go AS, Lindsay AC, Ehm MG, Waterworth DM, Risch N, Schaefer C. Meta-Analysis of 26 638 Individuals Identifies Two Genetic Loci Associated With Left Ventricular Ejection Fraction. Circ Genom Precis Med. 2020 08; 13(4):e002804.  View on PubMed
  12. Choquet H, Melles RB, Yin J, Hoffmann TJ, Thai KK, Kvale MN, Banda Y, Hardcastle AJ, Tuft SJ, Glymour MM, Schaefer C, Risch N, Nair KS, Hysi PG, Jorgenson E. A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. Commun Biol. 2020 06 11; 3(1):301.  View on PubMed
  13. Oni-Orisan A, Haldar T, Ranatunga DK, Medina MW, Schaefer C, Krauss RM, Iribarren C, Risch N, Hoffmann TJ. The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change. NPJ Genom Med. 2020; 5:1.  View on PubMed
  14. Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. A brief history of human disease genetics. Nature. 2020 01; 577(7789):179-189.  View on PubMed
  15. Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520.  View on PubMed
  16. Genetics of Glaucoma in People of African Descent (GGLAD) Consortium , Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmichael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, Khor CC. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA. 2019 11 05; 322(17):1682-1691.  View on PubMed
  17. Fohner AE, Ranatunga DK, Thai KK, Lawson BL, Risch N, Oni-Orisan A, Jelalian AT, Rettie AE, Liu VX, Schaefer CA. Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system. Pharmacogenet Genomics. 2019 10; 29(8):192-199.  View on PubMed
  18. Abuabara K, You Y, Margolis DJ, Hoffmann TJ, Risch N, Jorgenson E. Genetic ancestry does not explain increased atopic dermatitis susceptibility or worse disease control among African American subjects in 2 large US cohorts. J Allergy Clin Immunol. 2020 01; 145(1):192-198.e11.  View on PubMed
  19. Alexeeff SE, Schaefer CA, Kvale MN, Shan J, Blackburn EH, Risch N, Ranatunga DK, Jorgenson E, Hoffmann TJ, Sakoda LC, Quesenberry CP, Van Den Eeden SK. Telomere length and socioeconomic status at neighborhood and individual levels among 80,000 adults in the Genetic Epidemiology Research on Adult Health and Aging cohort. Environ Epidemiol. 2019 Jun; 3(3):e049.  View on PubMed
  20. Kilpeläinen TO, Bentley AR, Noordam R, Sung YJ, Schwander K, Winkler TW, Jakupovic H, Chasman DI, Manning A, Ntalla I, Aschard H, Brown MR, de Las Fuentes L, Franceschini N, Guo X, Vojinovic D, Aslibekyan S, Feitosa MF, Kho M, Musani SK, Richard M, Wang H, Wang Z, Bartz TM, Bielak LF, Campbell A, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Li C, Lohman KK, Marten J, Sim X, Smith AV, Tajuddin SM, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Evangelou E, Gao C, Graff M, Harris SE, He M, Hsu FC, Jackson AU, Zhao JH, Kraja AT, Kühnel B, Laguzzi F, Lyytikäinen LP, Nolte IM, Rauramaa R, Riaz M, Robino A, Rueedi R, Stringham HM, Takeuchi F, van der Most PJ, Varga TV, Verweij N, Ware EB, Wen W, Li X, Yanek LR, Amin N, Arnett DK, Boerwinkle E, Brumat M, Cade B, Canouil M, Chen YI, Concas MP, Connell J, de Mutsert R, de Silva HJ, de Vries PS, Demirkan A, Ding J, Eaton CB, Faul JD, Friedlander Y, Gabriel KP, Ghanbari M, Giulianini F, Gu CC, Gu D, Harris TB, He J, Heikkinen S, Heng CK, Hunt SC, Ikram MA, Jonas JB, Koh WP, Komulainen P, Krieger JE, Kritchevsky SB, Kutalik Z, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Leander K, Lemaitre RN, Lewis CE, Liang J, Lifelines Cohort Study , Liu J, Mägi R, Manichaikul A, Meitinger T, Metspalu A, Milaneschi Y, Mohlke KL, Mosley TH, Murray AD, Nalls MA, Nang EK, Nelson CP, Nona S, Norris JM, Nwuba CV, O'Connell J, Palmer ND, Papanicolau GJ, Pazoki R, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous DJ, Poveda A, Raitakari OT, Rich SS, Risch N, Robinson JG, Rose LM, Rudan I, Schreiner PJ, Scott RA, Sidney SS, Sims M, Smith JA, Snieder H, Sofer T, Starr JM, Sternfeld B, Strauch K, Tang H, Taylor KD, Tsai MY, Tuomilehto J, Uitterlinden AG, van der Ende MY, van Heemst D, Voortman T, Waldenberger M, Wennberg P, Wilson G, Xiang YB, Yao J, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, de Faire U, Deary IJ, Elliott P, Esko T, Freedman BI, Froguel P, Gasparini P, Gieger C, Kato N, Laakso M, Lakka TA, Lehtimäki T, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Samani NJ, Shu XO, van der Harst P, Van Vliet-Ostaptchouk JV, Vollenweider P, Wagenknecht LE, Wang YX, Wareham NJ, Weir DR, Wu T, Zheng W, Zhu X, Evans MK, Franks PW, Gudnason V, Hayward C, Horta BL, Kelly TN, Liu Y, North KE, Pereira AC, Ridker PM, Tai ES, van Dam RM, Fox ER, Kardia SLR, Liu CT, Mook-Kanamori DO, Province MA, Redline S, van Duijn CM, Rotter JI, Kooperberg CB, Gauderman WJ, Psaty BM, Rice K, Munroe PB, Fornage M, Cupples LA, Rotimi CN, Morrison AC, Rao DC, Loos RJF. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nat Commun. 2019 01 22; 10(1):376.  View on PubMed

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