Neil J. Risch, PhD

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. Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10.  View on PubMed
2. Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry. medRxiv. 2023 May 24.  View on PubMed
3. Ollila HM, Sharon E, Lin L, Sinnott-Armstrong N, Ambati A, Yogeshwar SM, Hillary RP, Jolanki O, Faraco J, Einen M, Luo G, Zhang J, Han F, Yan H, Dong XS, Li J, Zhang J, Hong SC, Kim TW, Dauvilliers Y, Barateau L, Lammers GJ, Fronczek R, Mayer G, Santamaria J, Arnulf I, Knudsen-Heier S, Bredahl MKL, Thorsby PM, Plazzi G, Pizza F, Moresco M, Crowe C, Van den Eeden SK, Lecendreux M, Bourgin P, Kanbayashi T, Martínez-Orozco FJ, Peraita-Adrados R, Benetó A, Montplaisir J, Desautels A, Huang YS, FinnGen, Jennum P, Nevsimalova S, Kemlink D, Iranzo A, Overeem S, Wierzbicka A, Geisler P, Sonka K, Honda M, Högl B, Stefani A, Coelho FM, Mantovani V, Feketeova E, Wadelius M, Eriksson N, Smedje H, Hallberg P, Hesla PE, Rye D, Pelin Z, Ferini-Strambi L, Bassetti CL, Mathis J, Khatami R, Aran A, Nampoothiri S, Olsson T, Kockum I, Partinen M, Perola M, Kornum BR, Rueger S, Winkelmann J, Miyagawa T, Toyoda H, Khor SS, Shimada M, Tokunaga K, Rivas M, Pritchard JK, Risch N, Kutalik Z, O'Hara R, Hallmayer J, Ye CJ, Mignot EJ. Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nat Commun. 2023 05 15; 14(1):2709.  View on PubMed
4. Hoffmann TJ, Lu M, Oni-Orisan A, Lee C, Risch N, Iribarren C. A large genome-wide association study of QT interval length utilizing electronic health records. Genetics. 2022 11 30; 222(4).  View on PubMed
5. Oni-Orisan A, Haldar T, Cayabyab MAS, Ranatunga DK, Hoffmann TJ, Iribarren C, Krauss RM, Risch N. Polygenic Risk Score and Statin Relative Risk Reduction for Primary Prevention of Myocardial Infarction in a Real-World Population. Clin Pharmacol Ther. 2022 11; 112(5):1070-1078.  View on PubMed
6. Haldar T, Oni-Orisan A, Hoffmann TJ, Schaefer C, Iribarren C, Krauss RM, Medina MW, Risch N. Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort. Cardiovasc Diabetol. 2022 07 14; 21(1):132.  View on PubMed
7. Collins R, Balaconis MK, Brunak S, Chen Z, De Silva M, Gaziano JM, Ginsburg GS, Jha P, Kuri P, Metspalu A, Mulder N, Risch N. Global priorities for large-scale biomarker-based prospective cohorts. Cell Genom. 2022 Jun 08; 2(6):100141.  View on PubMed
8. Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MPM, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, Clair DS, Stahl EA, Vreeker A, Walters JTR, Wang W, Watts NA, Yolken R, Zandi PP, Neale BM. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. Nat Genet. 2022 05; 54(5):541-547.  View on PubMed
9. Norstad M, Outram S, Brown JEH, Zamora AN, Koenig BA, Risch N, Norton ME, Slavotinek A, Ackerman SL. The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research. Genet Med. 2022 02; 24(2):410-418.  View on PubMed
10. Mantri N, Lu M, Zaroff JG, Risch N, Hoffmann T, Oni-Orisan A, Lee C, Jorgenson E, Iribarren C. QT Interval Dynamics and Cardiovascular Outcomes: A Cohort Study in an Integrated Health Care Delivery System. J Am Heart Assoc. 2021 10 05; 10(19):e018513.  View on PubMed
11. Mantri N, Lu M, Zaroff JG, Risch N, Hoffmann T, Oni-Orisan A, Lee C, Iribarren C. Torsade de pointes: A nested case-control study in an integrated healthcare delivery system. Ann Noninvasive Electrocardiol. 2022 01; 27(1):e12888.  View on PubMed
12. 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 Sep; 26(9):5251.  View on PubMed
13. 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
14. 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
15. 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
16. 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 09; 26(9):5239-5250.  View on PubMed
17. 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
18. 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
19. 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
20. 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

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