Neil J. Risch , PhD
Publications
A large genome-wide association study of QT interval length utilizing electronic health records
Authors: Hoffmann, Thomas J; Lu, Meng; Oni-Orisan, Akinyemi; Lee, Catherine; Risch, Neil; Iribarren, Carlos
Genetics. 2022 Nov 30;222(4).
Polygenic risk score and statin relative risk reduction for primary prevention of myocardial infarction in a real-world population
Authors: Oni-Orisan, Akinyemi; Haldar, Tanushree; Cayabyab, Mari A S; Ranatunga, Dilrini K; Hoffmann, Thomas J; Iribarren, Carlos; Krauss, Ronald M; Risch, Neil
Clin Pharmacol Ther. 2022 Nov;112(5):1070-1078. Epub 2022-08-24.
Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort
Authors: Haldar, Tanushree; Oni-Orisan, Akinyemi; Hoffmann, Thomas J; Schaefer, Catherine; Iribarren, Carlos; Krauss, Ronald M; Medina, Marisa W; Risch, Neil
Cardiovasc Diabetol. 2022 Jul 14;21(1):132. Epub 2022-07-14.
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
Authors: Palmer, Duncan S; Schaefer, Catherine; Scott, Laura; Neale, Benjamin M; et al.
Nat Genet. 2022 05;54(5):541-547. Epub 2022-04-11.
The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change
Authors: Oni-Orisan A; Haldar T; Ranatunga DK; Medina MW; Schaefer C; Krauss RM; Iribarren C; Risch N; Hoffmann TJ
NPJ Genom Med. 2020;5:1. Epub 2020-01-16.
Genetic ancestry does not explain increased atopic dermatitis susceptibility or worse disease control among African American subjects in 2 large US cohorts
Authors: Abuabara K; You Y; Margolis DJ; Hoffmann TJ; Risch N; Jorgenson E
J Allergy Clin Immunol. 2020 01;145(1):192-198.e11. Epub 2019-07-29.
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry
Authors: Genetics of Glaucoma in People of African Descent (GGLAD) Consortium; Risch N; Khor CC; et al.
JAMA. 2019 11 05;322(17):1682-1691.
Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system
Authors: Fohner AE; Ranatunga DK; Thai KK; Lawson BL; Risch N; Oni-Orisan A; Jelalian AT; Rettie AE; Liu VX; Schaefer CA
Pharmacogenet Genomics. 2019 10;29(8):192-199.
Newton E. Morton (1929–2018)
Authors: Sherman, Stephanie L; Rao, D C; Keats, Bronya J; Yee, Shirley; Spence, M Anne; Hassold, Terry J; Chakravarti, Aravinda; Elston, Robert C; Crolla, John A; Ennis, Sarah; Risch, Neil
Am J Hum Genet. 2018 Jun 07;102(6):1011-1017. Epub 2018-06-08.
A large electronic-health-record-based genome-wide study of serum lipids
Authors: Hoffmann TJ; Schaefer C; Iribarren C; Risch N; et al.
Nat Genet. 2018 03;50(3):401-413. Epub 2018-03-05.
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
Authors: Choquet H; Thai KK; Yin J; Hoffmann TJ; Kvale MN; Banda Y; Schaefer C; Risch N; Nair KS; Melles R; Jorgenson E
Nat Commun. 2017 Dec 13;8(1):2108. Epub 2017-12-13.
Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study
Authors: Jorgenson E; Thai KK; Hoffmann TJ; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Mertens J; Weisner C; Choquet H
Mol Psychiatry. 2017 Sep;22(9):1359-1367. Epub 2017-05-09.
Structured mating: Patterns and implications
Authors: Sebro R; Peloso GM; Dupuis J; Risch NJ
PLoS Genet. 2017 Apr;13(4):e1006655. Epub 2017-04-06.
Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer
Authors: Hoffmann TJ; Sakoda LC; Habel LA; Quesenberry CP; Schaefer C; Risch N; Van Den Eeden SK; Witte JS; et al.
Nat Commun. 2017 Jan 31;8:14248. Epub 2017-01-31.
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation
Authors: Hoffmann TJ; Ehret GB; Nandakumar P; Ranatunga D; Schaefer C; Kwok PY; Iribarren C; Chakravarti A; Risch N
Nat Genet. 2017 Jan;49(1):54-64. Epub 2016-11-14.
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records
Authors: Hoffmann TJ; Keats BJ; Yoshikawa N; Schaefer C; Risch N; Lustig LR
PLoS Genet. 2016 Oct;12(10):e1006371. Epub 2016-10-20.
The Association of Refractive Error with Glaucoma in a Multiethnic Population
Authors: Shen L; Melles RB; Metlapally R; Barcellos L; Schaefer C; Risch N; Herrinton LJ; Wildsoet C; Jorgenson E
Ophthalmology. 2015 Aug 7.
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration
Authors: Jorgenson E; Melles RB; Hoffmann TJ; Jia X; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Shen L
Eur J Hum Genet. 2016 Jul;24(7):1049-55. Epub 2016-01-06.
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Authors: Kvale MN; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.
Genetics. 2015 Aug;200(4):1051-60. Epub 2015-06-19.
Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Authors: Lapham K; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Risch N; Schaefer C; Blackburn EH; et al.
Genetics. 2015 Aug;200(4):1061-72. Epub 2015-06-19.
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Authors: Banda Y; Croen LA; Iribarren C; Kushi LH; Quesenberry CP; Sakoda LC; Van Den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.
Genetics. 2015 Aug;200(4):1285-95. Epub 2015-06-19.
Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes
Authors: Shen L; Hoffmann TJ; Melles RB; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Jorgenson E
Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4290-9.
Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response
Authors: Wen CC; Yee SW; Liang X; Hoffmann TJ; Kvale MN; Banda Y; Jorgenson E; Schaefer C; Risch N; Giacomini KM
Clin Pharmacol Ther. 2015 May;97(5):518-25. Epub 2015-04-06.
Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort
Authors: Hoffmann TJ; Sakoda LC; Habel LA; Asgari MM; Corley D; Kushi LH; Quesenberry CP; Schaefer C; Van Den Eeden SK; Risch N; Witte JS; et al.
PLoS Genet. 2015 Jan;11(1):e1004930. Epub 2015-01-28.
Genome-wide association and admixture analysis of glaucoma in the Women’s Health Initiative
Authors: Hoffmann TJ; Tang H; Thornton TA; Caan B; Haan M; Millen AE; Thomas F; Risch N
Hum Mol Genet. 2014 Dec 15;23(24):6634-43. Epub 2014-07-15.
Estimating genotype error rates from high-coverage next-generation sequence data
Authors: Wall JD; Tang LF; Zerbe B; Kvale MN; Kwok PY; Schaefer C; Risch N
Genome Res. 2014 Nov;24(11):1734-9. Epub 2014-10-10.
Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
Authors: Risch N; Hoffmann TJ; Anderson M; Croen LA; Grether JK; Windham GC
Am J Psychiatry. 2014 Nov 1;171(11):1206-13.
Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder: A Large, Population-Based Cohort Study
Authors: Hoffmann TJ; Windham GC; Anderson M; Croen LA; Grether JK; Risch N
JAMA Psychiatry. 2014 Aug;71(8):943-51.
African American race but not genome-wide ancestry is negatively associated with atrial fibrillation among postmenopausal women in the Women’s Health Initiative
Authors: Perez MV; Hoffmann TJ; Tang H; Thornton T; Stefanick ML; Larson JC; Kooperberg C; Reiner AP; Caan B; Iribarren C; Risch N
Am Heart J. 2013 Sep;166(3):566-72.
Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
Authors: Coram MA; Risch NJ; Tang H; et al.
Am J Hum Genet. 2013 Jun 6;92(6):904-16. Epub 2013-05-30.
Estimating kinship in admixed populations
Authors: Thornton T; Tang H; Hoffmann TJ; Ochs-Balcom HM; Caan BJ; Risch N
Am J Hum Genet. 2012 Jul 13;91(1):122-38. Epub 2012 Jun 28.
Differentiating Population Stratification from Genotyping Error Using Family Data
Authors: Sebro R; Lange C; Laird NM; Rogus JJ; Risch NJ
Ann Hum Genet. 2012 Jan;76(1):42-52. Epub 2011 Nov 23.
Genetic Epidemiology and Gene Discovery in Epilepsy
Authors: Ottman R; Risch N
Bethesda (MD): National Center for Biotechnology Information (US); 2012.
Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm
Authors: Hoffmann TJ; Iribarren C; Quesenberry C; Van den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.
Genomics. 2011 Dec;98(6):422-30. Epub 2011 Aug 28.
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Authors: Hallmayer J; Croen LA; Risch N; et al.
Arch Gen Psychiatry. 2011 Nov;68(11):1095-102. Epub 2011 Jul 4.
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array
Authors: Hoffmann TJ; Iribarren C; Quesenberry C; Van den Eeden SK; Whitmer RA; Schaefer C; Risch N; et al.
Genomics. 2011 Aug;98(2):79-89. Epub 2011 Apr 30.
Common variants in P2RY11 are associated with narcolepsy
Authors: Kornum BR; Kawashima M; Faraco J; Lin L; Rico TJ; Hesselson S; Axtell RC; Kuipers H; Weiner K; Hamacher A; Kassack MU; Han F; Knudsen S; Li J; Dong X; Winkelmann J; Plazzi G; Nevsimalova S; Hong SC; Honda Y; Honda M; Hogl B; Ton TG; Montplaisir J; Bourgin P; Kemlink D; Huang YS; Warby S; Einen M; Eshragh JL; Miyagawa T; Desautels A; Ruppert E; Hesla PE; Poli F; Pizza F; Frauscher B; Jeong JH; Lee SP; Strohl KP; Longstreth WT; Kvale M; Dobrovolna M; Ohayon MM; Nepom GT; Wichmann HE; Rouleau GA; Gieger C; Levinson DF; Gejman PV; Meitinger T; Peppard P; Young T; Jennum P; Steinman L; Tokunaga K; Kwok PY; Risch N; Hallmayer J; Mignot E
Nat Genet. 2011 Jan;43(1):66-71. Epub 2010 Dec 19.
History shaped the geographic distribution of genomic admixture on the island of Puerto Rico
Authors: Via M; Burchard EG; Martinez-Cruzado JC; et al.
PLoS One. 2011 Jan 31;6(1):e16513.
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies
Authors: Assimes TL; Iribarren C; Go A; Cardiogenics; et al.
J Am Coll Cardiol. 2010 Nov 2;56(19):1552-63.
Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study
Authors: Sebro R; Hoffman TJ; Lange C; Rogus JJ; Risch NJ
Genet Epidemiol. 2010 Nov;34(7):674-9.
Human genetic variation recognizes functional elements in noncoding sequence
Authors: Lomelin D; Jorgenson E; Risch N
Genome Res. 2010 Mar;20(3):311-9. Epub 2009 Dec 23.
Ancestry-related assortative mating in Latino populations
Authors: Risch N; Choudhry S; Via M; Basu A; Sebro R; Eng C; Beckman K; Thyne S; Chapela R; Rodriguez-Santana JR; Rodriguez-Cintron W; Avila PC; Ziv E; Gonzalez Burchard E
Genome Biol. 2009;10(11):R132. Epub 2009 Nov 20.
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis
Authors: Risch N; Herrell R; Lehner T; Liang KY; Eaves L; Hoh J; Griem A; Kovacs M; Ott J; Merikangas KR
JAMA. 2009 Jun 17;301(23):2462-71.
Admixture mapping of quantitative trait loci for BMI in African Americans: evidence for loci on chromosomes 3q, 5q, and 15q
Authors: Basu A; Tang H; Arnett D; Gu CC; Mosley T; Kardia S; Luke A; Tayo B; Cooper R; Zhu X; Risch N
Obesity (Silver Spring). 2009 Jun;17(6):1226-31. Epub 2009 Feb 19.
Admixture mapping of quantitative trait loci for blood lipids in African-Americans
Authors: Basu A; Tang H; Lewis CE; North K; Curb JD; Quertermous T; Mosley TH; Boerwinkle E; Zhu X; Risch NJ
Hum Mol Genet. 2009 Jun 1;18(11):2091-8. Epub 2009 Mar 20.
Narcolepsy is strongly associated with the T-cell receptor alpha locus
Authors: Hallmayer J; Risch N; Mignot E; et al.
Nat Genet. 2009 Jun;41(6):708-11. Epub 2009 May 3.
Characterizing the admixed African ancestry of African Americans
Authors: Zakharia F; Go AS; Iribarren C; Risch N; Tang H; et al.
Genome Biol. 2009;10(12):R141. Epub 2009 Dec 22.
Genome-wide distribution of ancestry in Mexican Americans
Authors: Basu A; Tang H; Zhu X; Gu CC; Hanis C; Boerwinkle E; Risch N
Hum Genet. 2008 Oct;124(3):207-14. Epub 2008 Aug 28.
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
Authors: Assimes TL; Iribarren C; Go AS; Risch N; Quertermous T; et al.
Hum Mol Genet. 2008 Aug 1;17(15):2320-8. Epub 2008 Apr 28.
Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region
Authors: Choudhry S; Taub M; Mei R; Rodriguez-Santana J; Rodriguez-Cintron W; Shriver MD; Ziv E; Risch NJ; Burchard EG
Hum Genet. 2008 Jun;123(5):455-68. Epub 2008 Apr 10.
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
Authors: Assimes TL; Knowles JW; Priest JR; Basu A; Volcik KA; Southwick A; Tabor HK; Hartiala J; Allayee H; Grove ML; Tabibiazar R; Sidney S; Fortmann SP; Go A; Hlatky M; Iribarren C; Boerwinkle E; Myers R; Risch N; Quertermous T
Hum Genet. 2008 May;123(4):399-408. Epub 2008 Mar 28.
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD
Authors: Knowles JW; Go A; Iribarren C; Risch N; Quertermous T; et al.
BMC Med Genet. 2008 Apr 2;9:23.
Recent genetic selection in the ancestral admixture of Puerto Ricans
Authors: Tang H; Choudhry S; Mei R; Morgan M; Rodriguez-Cintron W; Burchard EG; Risch NJ
Am J Hum Genet. 2007 Sep;81(3):626-33. Epub 2007 Aug 1.
Minimum incidence of primary cervical dystonia in a multiethnic health care population
Authors: Marras C; Van Den Eeden SK; Fross RD; Benedict-Albers KS; Klingman J; Leimpeter AD; Nelson LM; Risch N; Karter AJ; Bernstein AL; Tanner CM
Neurology. 2007 Aug 14;69(7):676-80.
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
Authors: Risch NJ; Bressman SB; Senthil G; Ozelius LJ
Am J Hum Genet. 2007 Jun;80(6):1188-93. Epub 2007 Apr 27.
Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by race
Authors: He XS; Risch N; Greenberg HB; et al.
Hepatology. 2006 Aug;44(2):352-9.
Twins of mistaken zygosity (TOMZ): evidence for genetic contributions to dietary patterns and physiologic traits
Authors: Gunderson EP; Tsai AL; Selby JV; Caan B; Mayer-Davis EJ; Risch N
Twin Res Hum Genet. 2006 Aug;9(4):540-9.
Dissecting racial and ethnic differences
Authors: Risch N
N Engl J Med. 2006 Jan 26;354(4):408-11.
Response to Zhang et al. (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. Neuron 45, 11-16
Authors: Glatt CE; Carlson E; Taylor TR; Risch N; Reus VI; Schaefer CA
Neuron. 2005 Dec 8;48(5):704-5; author reply 705-6.
Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research
Authors: Gonzalez Burchard E; Risch N; et al.
Am J Public Health. 2005 Dec;95(12):2161-8. Epub 2005 Oct 27.
Admixture mapping for hypertension loci with genome-scan markers
Authors: Zhu X; Luke A; Cooper RS; Quertermous T; Hanis C; Mosley T; Gu CC; Tang H; Rao DC; Risch N; Weder A
Nat Genet. 2005 Feb;37(2):177-81. Epub 2005 Jan 23.
Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies
Authors: Tang H; Risch NJ; et al.
Am J Hum Genet. 2005 Feb;76(2):268-75. Epub 2004 Dec 29.
2004 Curt Stern Award Address. The SNP endgame: a multidisciplinary approach
Authors: Risch N
Am J Hum Genet. 2005 Feb;76(2):221-6.
Ethnicity and human genetic linkage maps
Authors: Jorgenson E; Tang H; Gadde M; Province M; Leppert M; Kardia S; Schork N; Cooper R; Rao DC; Boerwinkle E; Risch N
Am J Hum Genet. 2005 Feb;76(2):276-90. Epub 2004 Dec 30.
Assessing genetic contributions to phenotypic differences among ‘racial’ and ‘ethnic’ groups
Authors: Mountain JL; Risch N
Nat Genet. 2004 Nov;36(11 Suppl):S48-53.
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population
Authors: Ekstein J; Rubin BY; Anderson SL; Weinstein DA; Bach G; Abeliovich D; Webb M; Risch N
Am J Med Genet A. 2004 Aug 30;129A(2):162-4.
Genomic priorities and public health
Authors: Merikangas KR; Risch N
Science. 2003 Oct 24;302(5645):599-601.
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints
Authors: Leabman MK; de la Cruz M; Pharmacogenetics Of Membrane Transporters Investigators; et al.
Proc Natl Acad Sci U S A. 2003 May 13;100(10):5896-901. Epub 2003 Apr 28.
Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
Authors: Risch N; Tang H; Katzenstein H; Ekstein J
Am J Hum Genet. 2003 Apr;72(4):812-22. Epub 2003 Feb 24.
The importance of race and ethnic background in biomedical research and clinical practice
Authors: Burchard EG; Ziv E; Coyle N; Gomez SL; Tang H; Karter AJ; Mountain JL; Perez-Stable EJ; Sheppard D; Risch N
N Engl J Med. 2003 Mar 20;348(12):1170-5.
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
Authors: Botstein D; Risch N
Nat Genet. 2003 Mar;33 Suppl:228-37.
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide
Authors: Kim UK; Jorgenson E; Coon H; Leppert M; Risch N; Drayna D
Science. 2003 Feb 21;299(5610):1221-5.
On the twin risk in autism
Authors: Hallmayer J; Glasson EJ; Bower C; Petterson B; Croen L; Grether J; Risch N
Am J Hum Genet. 2002 Oct;71(4):941-6. Epub 2002 Sep 12.
Candidate-gene approaches for studying complex genetic traits: practical considerations
Authors: Tabor HK; Risch NJ; Myers RM
Nat Rev Genet. 2002 May;3(5):391-7.
