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. Ferguson EL, Zimmerman SC, Jiang C, Choi M, Meyers TJ, Hoffmann TJ, Gilsanz P, Wang J, Oni-Orisan A, Whitmer RA, Risch N, Krauss RM, Patel CJ, Schaefer CA, Glymour MM. Uncertainty in the estimated effects of statin initiation on risk of dementia: using a multiverse analysis to assess sources of variability. Eur J Epidemiol. 2025 May 03.  View on PubMed
2. Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A. A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved. medRxiv. 2025 Apr 11.  View on PubMed
3. Blair DR, Risch N. Reduced Penetrance is Common Among Predicted Loss-of-Function Variants and is Likely Driven by Residual Allelic Activity. medRxiv. 2025 Mar 20.  View on PubMed
4. Choi M, Zimmerman SC, Jiang C, Wang J, Swinnerton K, Hoffmann TJ, Oni-Orisan A, Ferguson EL, Meyers T, Choudhary V, Whitmer RA, Risch N, Krauss RM, Schaefer CM, Glymour MM, Gilsanz P. Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+ years of follow-up. Alzheimers Dement. 2025 Mar; 21(3):e14627.  View on PubMed
5. Ferguson EL, Zimmerman SC, Jiang C, Choi M, Meyers TJ, Hoffmann TJ, Gilsanz P, Oni-Orisan A, Wang J, Whitmer RA, Risch N, Krauss RM, Schaefer CA, Glymour MM. Independent associations of high-density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias. Alzheimers Dement. 2025 Feb; 21(2):e14575.  View on PubMed
6. Norton ME, Risch N. The Inclusion of Race in Prenatal Screening Algorithms. Clin Chem. 2024 Jul 05; 70(7):891-893.  View on PubMed
7. Yaacov O, Mathiyalagan P, Berk-Rauch HE, Ganesh SK, Zhu L, Hoffmann TJ, Iribarren C, Risch N, Lee D, Chakravarti A. Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure. Hypertension. 2024 Jul; 81(7):1500-1510.  View on PubMed
8. Nobile B, Jaussent I, Kahn JP, Leboyer M, Risch N, Olié E, Courtet P. Risk factors of suicide re-attempt: A two-year prospective study. J Affect Disord. 2024 07 01; 356:535-544.  View on PubMed
9. 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. Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. NPJ Genom Med. 2024 Jan 03; 9(1):1.  View on PubMed
10. 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. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34.  View on PubMed
11. Budu-Aggrey A, Kilanowski A, Sobczyk MK, 23andMe Research Team, Shringarpure SS, Mitchell R, Reis K, Reigo A, Estonian Biobank Research Team, Mägi R, Nelis M, Tanaka N, Brumpton BM, Thomas LF, Sole-Navais P, Flatley C, Espuela-Ortiz A, Herrera-Luis E, Lominchar JVT, Bork-Jensen J, Marenholz I, Arnau-Soler A, Jeong A, Fawcett KA, Baurecht H, Rodriguez E, Alves AC, Kumar A, Sleiman PM, Chang X, Medina-Gomez C, Hu C, Xu CJ, Qi C, El-Heis S, Titcombe P, Antoun E, Fadista J, Wang CA, Thiering E, Wu B, Kress S, Kothalawala DM, Kadalayil L, Duan J, Zhang H, Hadebe S, Hoffmann T, Jorgenson E, Choquet H, Risch N, Njølstad P, Andreassen OA, Johansson S, Almqvist C, Gong T, Ullemar V, Karlsson R, Magnusson PKE, Szwajda A, Burchard EG, Thyssen JP, Hansen T, Kårhus LL, Dantoft TM, Jeanrenaud ACSN, Ghauri A, Arnold A, Homuth G, Lau S, Nöthen MM, Hübner N, Imboden M, Visconti A, Falchi M, Bataille V, Hysi P, Ballardini N, Boomsma DI, Hottenga JJ, Müller-Nurasyid M, Ahluwalia TS, Stokholm J, Chawes B, Schoos AM, Esplugues A, Bustamante M, Raby B, Arshad S, German C, Esko T, Milani LA, Metspalu A, Terao C, Abuabara K, Løset M, Hveem K, Jacobsson B, Pino-Yanes M, Strachan DP, Grarup N, Linneberg A, Lee YA, Probst-Hensch N, Weidinger S, Jarvelin MR, Melén E, Hakonarson H, Irvine AD, Jarvis D, Nijsten T, Duijts L, Vonk JM, Koppelmann GH, Godfrey KM, Barton SJ, Feenstra B, Pennell CE, Sly PD, Holt PG, Williams LK, Bisgaard H, Bønnelykke K, Curtin J, Simpson A, Murray C, Schikowski T, Bunyavanich S, Weiss ST, Holloway JW, Min JL, Brown SJ, Standl M, Paternoster L. European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. Nat Commun. 2023 10 04; 14(1):6172.  View on PubMed
12. Ferguson EL, Zimmerman SC, Jiang C, Choi M, Swinnerton K, Choudhary V, Meyers TJ, Hoffmann TJ, Gilsanz P, Oni-Orisan A, Whitmer RA, Risch N, Krauss RM, Schaefer CA, Glymour MM. Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan. Neurology. 2023 Nov 21; 101(21):e2172-e2184.  View on PubMed
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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

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