Jennifer Elizabeth Below, Ph.D.

Assistant Professor

jennifer.e.below@vanderbilt.edu
Faculty Appointments
Assistant Professor of Medicine
Education
Ph.D., Human Genetics, University of Chicago, Chicago, IllinoisB.A., Mathematics, Carleton College, Northfield, Minnesota
Research Description
Generally, I am interested in developing and applying computational methodologies to further our understanding of the genetic basis of human disease. Specifically, I focus on development of novel strategies for identifying and confirming genetic risk factors to complex traits including speech and language pathologies, diabetes, obesity, Alzheimer’s disease, cardiovascular disease, and metabolic traits via ascertainment of dense genetic (specifically whole genome/exome sequenced and whole genome imputed datasets) and phenotypic data.
Research Keywords
Genetics, Genomics, Identity-by-descent, Mendelian Disease, Health Disparity Research, Hispanic/Latino Genomics, Developmental Stuttering, Alzheimer's Disease, Next Generation Sequence Data Analysis, Computational Genetics, Complex Traits, Metabolic Health
Publications
Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J. Dent. Res [print-electronic]. 2017 Aug 8/1/2017; 22034517724149. PMID: 28813618, DOI: 10.1177/0022034517724149, ISSN: 1544-0591.

Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4): e174. PMID: 28761930, PMCID: PMC5515602, PII: NG2016003707, DOI: 10.1212/NXG.0000000000000174, ISSN: 2376-7839.

Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, Flannick J, Fuchsberger C, Gamazon ER, Gaulton KJ, Im HK, Teslovich TM, Blackwell TW, Bork-Jensen J, Burtt NP, Chen Y, Green T, Hartl C, Kang HM, Kumar A, Ladenvall C, Ma C, Moutsianas L, Pearson RD, Perry JRB, Rayner NW, Robertson NR, Scott LJ, van de Bunt M, Eriksson JG, Jula A, Koskinen S, Lehtimäki T, Palotie A, Raitakari OT, Jacobs SBR, Wessel J, Chu AY, Scott RA, Goodarzi MO, Blancher C, Buck G, Buck D, Chines PS, Gabriel S, Gjesing AP, Groves CJ, Hollensted M, Huyghe JR, Jackson AU, Jun G, Justesen JM, Mangino M, Murphy J, Neville M, Onofrio R, Small KS, Stringham HM, Trakalo J, Banks E, Carey J, Carneiro MO, DePristo M, Farjoun Y, Fennell T, Goldstein JI, Grant G, Hrabé de Angelis M, Maguire J, Neale BM, Poplin R, Purcell S, Schwarzmayr T, Shakir K, Smith JD, Strom TM, Wieland T, Lindstrom J, Brandslund I, Christensen C, Surdulescu GL, Lakka TA, Doney ASF, Nilsson P, Wareham NJ, Langenberg C, Varga TV, Franks PW, Rolandsson O, Rosengren AH, Farook VS, Thameem F, Puppala S, Kumar S, Lehman DM, Jenkinson CP, Curran JE, Hale DE, Fowler SP, Arya R, DeFronzo RA, Abboud HE, Syvänen AC, Hicks PJ, Palmer ND, Ng MCY, Bowden DW, Freedman BI, Esko T, Mägi R, Milani L, Mihailov E, Metspalu A, Narisu N, Kinnunen L, Bonnycastle LL, Swift A, Pasko D, Wood AR, Fadista J, Pollin TI, Barzilai N, Atzmon G, Glaser B, Thorand B, Strauch K, Peters A, Roden M, Müller-Nurasyid M, Liang L, Kriebel J, Illig T, Grallert H, Gieger C, Meisinger C, Lannfelt L, Musani SK, Griswold M, Taylor HA, Wilson G, Correa A, Oksa H, Scott WR, Afzal U, Tan ST, Loh M, Chambers JC, Sehmi J, Kooner JS, Lehne B, Cho YS, Lee JY, Han BG, Käräjämäki A, Qi Q, Qi L, Huang J, Hu FB, Melander O, Orho-Melander M, Below JE, Aguilar D, Wong TY, Liu J, Khor CC, Chia KS, Lim WY, Cheng CY, Chan E, Tai ES, Aung T, Linneberg A, Isomaa B, Meitinger T, Tuomi T, Hakaste L, Kravic J, Jørgensen ME, Lauritzen T, Deloukas P, Stirrups KE, Owen KR, Farmer AJ, Frayling TM, O'Rahilly SP, Walker M, Levy JC, Hodgkiss D, Hattersley AT, Kuulasmaa T, Stancáková A, Barroso I, Bharadwaj D, Chan J, Chandak GR, Daly MJ, Donnelly PJ, Ebrahim SB, Elliott P, Fingerlin T, Froguel P, Hu C, Jia W, Ma RCW, McVean G, Park T, Prabhakaran D, Sandhu M, Scott J, Sladek R, Tandon N, Teo YY, Zeggini E, Watanabe RM, Koistinen HA, Kesaniemi YA, Uusitupa M, Spector TD, Salomaa V, Rauramaa R, Palmer CNA, Prokopenko I, Morris AD, Bergman RN, Collins FS, Lind L, Ingelsson E, Tuomilehto J, Karpe F, Groop L, Jørgensen T, Hansen T, Pedersen O, Kuusisto J, Abecasis G, Bell GI, Blangero J, Cox NJ, Duggirala R, Seielstad M, Wilson JG, Dupuis J, Ripatti S, Hanis CL, Florez JC, Mohlke KL, Meigs JB, Laakso M, Morris AP, Boehnke M, Altshuler D, McCarthy MI, Gloyn AL, Lindgren CM. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes [print-electronic]. 2017 Jul; 66(7): 2019-32. PMID: 28341696, PMCID: PMC5482074, PII: db16-1329, DOI: 10.2337/db16-1329, ISSN: 1939-327X.

Parra EJ, Mazurek A, Gignoux CR, Sockell A, Agostino M, Morris AP, Petty LE, Hanis CL, Cox NJ, Valladares-Salgado A, Below JE, Cruz M. Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal. PLoS ONE. 2017; 12(2): e0172880. PMID: 28245265, PMCID: PMC5330487, PII: PONE-D-16-39411, DOI: 10.1371/journal.pone.0172880, ISSN: 1932-6203.

Wang H, Cade BE, Chen H, Gleason KJ, Saxena R, Feng T, Larkin EK, Vasan RS, Lin H, Patel SR, Tracy RP, Liu Y, Gottlieb DJ, Below JE, Hanis CL, Petty LE, Sunyaev SR, Frazier-Wood AC, Rotter JI, Post W, Lin X, Redline S, Zhu X. Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. Hum. Mol. Genet. 2016 Dec 12/1/2016; 25(23): 5244-53. PMID: 27798093, PII: ddw324, DOI: 10.1093/hmg/ddw324, ISSN: 1460-2083.

Xue C, Raveendran M, Harris RA, Fawcett GL, Liu X, White S, Dahdouli M, Rio Deiros D, Below JE, Salerno W, Cox L, Fan G, Ferguson B, Horvath J, Johnson Z, Kanthaswamy S, Kubisch HM, Liu D, Platt M, Smith DG, Sun B, Vallender EJ, Wang F, Wiseman RW, Chen R, Muzny DM, Gibbs RA, Yu F, Rogers J. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res [print-electronic]. 2016 Dec; 26(12): 1651-62. PMID: 27934697, PMCID: PMC5131817, PII: gr.204255.116, DOI: 10.1101/gr.204255.116, ISSN: 1549-5469.

Cade BE, Chen H, Stilp AM, Gleason KJ, Sofer T, Ancoli-Israel S, Arens R, Bell GI, Below JE, Bjonnes AC, Chun S, Conomos MP, Evans DS, Johnson WC, Frazier-Wood AC, Lane JM, Larkin EK, Loredo JS, Post WS, Ramos AR, Rice K, Rotter JI, Shah NA, Stone KL, Taylor KD, Thornton TA, Tranah GJ, Wang C, Zee PC, Hanis CL, Sunyaev SR, Patel SR, Laurie CC, Zhu X, Saxena R, Lin X, Redline S. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am. J. Respir. Crit. Care Med. 2016 Oct 10/1/2016; 194(7): 886-97. PMID: 26977737, PMCID: PMC5074655, DOI: 10.1164/rccm.201512-2431OC, ISSN: 1535-4970.

Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI. The genetic architecture of type 2 diabetes. Nature [print-electronic]. 2016 Aug 8/4/2016; 536(7614): 41-7. PMID: 27398621, PMCID: PMC5034897, DOI: 10.1038/nature18642, ISSN: 1476-4687.

Staples J, Witherspoon DJ, Jorde LB, Nickerson DA, , Below JE, Huff CD. PADRE: Pedigree-Aware Distant-Relationship Estimation. Am. J. Hum. Genet [print-electronic]. 2016 Jul 7/7/2016; 99(1): 154-62. PMID: 27374771, PMCID: PMC5005450, PII: S0002-9297(16)30155-0, DOI: 10.1016/j.ajhg.2016.05.020, ISSN: 1537-6605.

Hanis CL, Redline S, Cade BE, Bell GI, Cox NJ, Below JE, Brown EL, Aguilar D. Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas. Cardiovasc Diabetol. 2016 Jun 6/8/2016; 15: 86. PMID: 27266869, PMCID: PMC4897940, PII: 10.1186/s12933-016-0405-6, DOI: 10.1186/s12933-016-0405-6, ISSN: 1475-2840.

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am. J. Hum. Genet. 2016 Jun 6/2/2016; 98(6): 1146-58. PMID: 27259050, PMCID: PMC4908176, PII: S0002-9297(16)30104-5, DOI: 10.1016/j.ajhg.2016.04.009, ISSN: 1537-6605.

Horikoshi M, Pasquali L, Wiltshire S, Huyghe JR, Mahajan A, Asimit JL, Ferreira T, Locke AE, Robertson NR, Wang X, Sim X, Fujita H, Hara K, Young R, Zhang W, Choi S, Chen H, Kaur I, Takeuchi F, Fontanillas P, Thuillier D, Yengo L, Below JE, Tam CH, Wu Y, Abecasis G, Altshuler D, Bell GI, Blangero J, Burtt NP, Duggirala R, Florez JC, Hanis CL, Seielstad M, Atzmon G, Chan JC, Ma RC, Froguel P, Wilson JG, Bharadwaj D, Dupuis J, Meigs JB, Cho YS, Park T, Kooner JS, Chambers JC, Saleheen D, Kadowaki T, Tai ES, Mohlke KL, Cox NJ, Ferrer J, Zeggini E, Kato N, Teo YY, Boehnke M, McCarthy MI, Morris AP, . Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Hum. Mol. Genet [print-electronic]. 2016 May 5/15/2016; 25(10): 2070-81. PMID: 26911676, PMCID: PMC5062576, PII: ddw048, DOI: 10.1093/hmg/ddw048, ISSN: 1460-2083.

Below JE, Parra EJ. Genome-Wide Studies of Type 2 Diabetes and Lipid Traits in Hispanics. Curr. Diab. Rep. 2016 May; 16(5): 41. PMID: 27007718, PII: 10.1007/s11892-016-0737-3, DOI: 10.1007/s11892-016-0737-3, ISSN: 1539-0829.

Staples J, Ekunwe L, Lange E, Wilson JG, Nickerson DA, Below JE. PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes. Bioinformatics [print-electronic]. 2016 Feb 2/15/2016; 32(4): 596-8. PMID: 26515822, PII: btv618, DOI: 10.1093/bioinformatics/btv618, ISSN: 1367-4811.

Below JE, Parra EJ, Gamazon ER, Torres J, Krithika S, Candille S, Lu Y, Manichakul A, Peralta-Romero J, Duan Q, Li Y, Morris AP, Gottesman O, Bottinger E, Wang XQ, Taylor KD, Ida Chen YD, Rotter JI, Rich SS, Loos RJ, Tang H, Cox NJ, Cruz M, Hanis CL, Valladares-Salgado A. Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. Sci Rep. 2016 Jan 1/19/2016; 6: 19429. PMID: 26780889, PMCID: PMC4726092, PII: srep19429, DOI: 10.1038/srep19429, ISSN: 2045-2322.

Blangero J, Teslovich TM, Sim X, Almeida MA, Jun G, Dyer TD, Johnson M, Peralta JM, Manning A, Wood AR, Fuchsberger C, Kent JW, Aguilar DA, Below JE, Farook VS, Arya R, Fowler S, Blackwell TW, Puppala S, Kumar S, Glahn DC, Moses EK, Curran JE, Thameem F, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis C, Abecasis G, Boehnke M, Göring H, Duggirala R, Almasy L, . Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19. BMC Proc. 2016; 10(Suppl 7): 71-7. PMID: 27980614, PMCID: PMC5133484, PII: 8, DOI: 10.1186/s12919-016-0008-y, ISSN: 1753-6561.

Palmer ND, Goodarzi MO, Langefeld CD, Wang N, Guo X, Taylor KD, Fingerlin TE, Norris JM, Buchanan TA, Xiang AH, Haritunians T, Ziegler JT, Williams AH, Stefanovski D, Cui J, Mackay AW, Henkin LF, Bergman RN, Gao X, Gauderman J, Varma R, Hanis CL, Cox NJ, Highland HM, Below JE, Williams AL, Burtt NP, Aguilar-Salinas CA, Huerta-Chagoya A, Gonzalez-Villalpando C, Orozco L, Haiman CA, Tsai MY, Johnson WC, Yao J, Rasmussen-Torvik L, Pankow J, Snively B, Jackson RD, Liu S, Nadler JL, Kandeel F, Chen YD, Bowden DW, Rich SS, Raffel LJ, Rotter JI, Watanabe RM, Wagenknecht LE. Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. Diabetes [print-electronic]. 2015 May; 64(5): 1853-66. PMID: 25524916, PMCID: PMC4407862, PII: db14-0732, DOI: 10.2337/db14-0732, ISSN: 1939-327X.

Brown EL, Below JE, Fischer RS, Essigmann HT, Hu H, Huff C, Robinson DA, Petty LE, Aguilar D, Bell GI, Hanis CL. Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. PLoS ONE. 2015; 10(11): e0142130. PMID: 26569114, PMCID: PMC4646511, PII: PONE-D-15-34257, DOI: 10.1371/journal.pone.0142130, ISSN: 1932-6203.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015; 7(1): 54. PMID: 26195989, PMCID: PMC4507324, PII: 171, DOI: 10.1186/s13073-015-0171-1, ISSN: 1756-994X.

Staples J, Qiao D, Cho MH, Silverman EK, , Nickerson DA, Below JE. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am. J. Hum. Genet [print-electronic]. 2014 Nov 11/6/2014; 95(5): 553-64. PMID: 25439724, PMCID: PMC4225580, PII: S0002-9297(14)00427-3, DOI: 10.1016/j.ajhg.2014.10.005, ISSN: 1537-6605.

Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, Wacher N, Cruz M, Hanis CL, Cox NJ. Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am. J. Hum. Genet [print-electronic]. 2014 Nov 11/6/2014; 95(5): 521-34. PMID: 25439722, PMCID: PMC4225593, PII: S0002-9297(14)00423-6, DOI: 10.1016/j.ajhg.2014.10.001, ISSN: 1537-6605.

Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC, . TCIRG1-associated congenital neutropenia. Hum. Mutat [print-electronic]. 2014 Jul; 35(7): 824-7. PMID: 24753205, PMCID: PMC4055522, DOI: 10.1002/humu.22563, ISSN: 1098-1004.

, , , , , Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MC, Prokopenko I, Saleheen D, Wang X, Zeggini E, Abecasis GR, Adair LS, Almgren P, Atalay M, Aung T, Baldassarre D, Balkau B, Bao Y, Barnett AH, Barroso I, Basit A, Been LF, Beilby J, Bell GI, Benediktsson R, Bergman RN, Boehm BO, Boerwinkle E, Bonnycastle LL, Burtt N, Cai Q, Campbell H, Carey J, Cauchi S, Caulfield M, Chan JC, Chang LC, Chang TJ, Chang YC, Charpentier G, Chen CH, Chen H, Chen YT, Chia KS, Chidambaram M, Chines PS, Cho NH, Cho YM, Chuang LM, Collins FS, Cornelis MC, Couper DJ, Crenshaw AT, van Dam RM, Danesh J, Das D, de Faire U, Dedoussis G, Deloukas P, Dimas AS, Dina C, Doney AS, Donnelly PJ, Dorkhan M, van Duijn C, Dupuis J, Edkins S, Elliott P, Emilsson V, Erbel R, Eriksson JG, Escobedo J, Esko T, Eury E, Florez JC, Fontanillas P, Forouhi NG, Forsen T, Fox C, Fraser RM, Frayling TM, Froguel P, Frossard P, Gao Y, Gertow K, Gieger C, Gigante B, Grallert H, Grant GB, Grrop LC, Groves CJ, Grundberg E, Guiducci C, Hamsten A, Han BG, Hara K, Hassanali N, Hattersley AT, Hayward C, Hedman AK, Herder C, Hofman A, Holmen OL, Hovingh K, Hreidarsson AB, Hu C, Hu FB, Hui J, Humphries SE, Hunt SE, Hunter DJ, Hveem K, Hydrie ZI, Ikegami H, Illig T, Ingelsson E, Islam M, Isomaa B, Jackson AU, Jafar T, James A, Jia W, Jöckel KH, Jonsson A, Jowett JB, Kadowaki T, Kang HM, Kanoni S, Kao WH, Kathiresan S, Kato N, Katulanda P, Keinanen-Kiukaanniemi KM, Kelly AM, Khan H, Khaw KT, Khor CC, Kim HL, Kim S, Kim YJ, Kinnunen L, Klopp N, Kong A, Korpi-Hyövälti E, Kowlessur S, Kraft P, Kravic J, Kristensen MM, Krithika S, Kumar A, Kumate J, Kuusisto J, Kwak SH, Laakso M, Lagou V, Lakka TA, Langenberg C, Langford C, Lawrence R, Leander K, Lee JM, Lee NR, Li M, Li X, Li Y, Liang J, Liju S, Lim WY, Lind L, Lindgren CM, Lindholm E, Liu CT, Liu JJ, Lobbens S, Long J, Loos RJ, Lu W, Luan J, Lyssenko V, Ma RC, Maeda S, Mägi R, Männisto S, Matthews DR, Meigs JB, Melander O, Metspalu A, Meyer J, Mirza G, Mihailov E, Moebus S, Mohan V, Mohlke KL, Morris AD, Mühleisen TW, Müller-Nurasyid M, Musk B, Nakamura J, Nakashima E, Navarro P, Ng PK, Nica AC, Nilsson PM, Njølstad I, Nöthen MM, Ohnaka K, Ong TH, Owen KR, Palmer CN, Pankow JS, Park KS, Parkin M, Pechlivanis S, Pedersen NL, Peltonen L, Perry JR, Peters A, Pinidiyapathirage JM, Platou CG, Potter S, Price JF, Qi L, Radha V, Rallidis L, Rasheed A, Rathman W, Rauramaa R, Raychaudhuri S, Rayner NW, Rees SD, Rehnberg E, Ripatti S, Robertson N, Roden M, Rossin EJ, Rudan I, Rybin D, Saaristo TE, Salomaa V, Saltevo J, Samuel M, Sanghera DK, Saramies J, Scott J, Scott LJ, Scott RA, Segrè AV, Sehmi J, Sennblad B, Shah N, Shah S, Shera AS, Shu XO, Shuldiner AR, Sigurdsson G, Sijbrands E, Silveira A, Sim X, Sivapalaratnam S, Small KS, So WY, Stancáková A, Stefansson K, Steinbach G, Steinthorsdottir V, Stirrups K, Strawbridge RJ, Stringham HM, Sun Q, Suo C, Syvänen AC, Takayanagi R, Takeuchi F, Tay WT, Teslovich TM, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tikkanen E, Trakalo J, Tremoli E, Trip MD, Tsai FJ, Tuomi T, Tuomilehto J, Uitterlinden AG, Valladares-Salgado A, Vedantam S, Veglia F, Voight BF, Wang C, Wareham NJ, Wennauer R, Wickremasinghe AR, Wilsgaard T, Wilson JF, Wiltshire S, Winckler W, Wong TY, Wood AR, Wu JY, Wu Y, Yamamoto K, Yamauchi T, Yang M, Yengo L, Yokota M, Young R, Zabaneh D, Zhang F, Zhang R, Zheng W, Zimmet PZ, Altshuler D, Bowden DW, Cho YS, Cox NJ, Cruz M, Hanis CL, Kooner J, Lee JY, Seielstad M, Teo YY, Boehnke M, Parra EJ, Chambers JC, Tai ES, McCarthy MI, Morris AP. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat. Genet [print-electronic]. 2014 Mar; 46(3): 234-44. PMID: 24509480, PMCID: PMC3969612, PII: ng.2897, DOI: 10.1038/ng.2897, ISSN: 1546-1718.

Staples J, Nickerson DA, Below JE. Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis. Genet. Epidemiol [print-electronic]. 2013 Feb; 37(2): 136-41. PMID: 22996348, PMCID: PMC3770842, DOI: 10.1002/gepi.21684, ISSN: 1098-2272.

Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ, . Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am. J. Hum. Genet [print-electronic]. 2013 Jan 1/10/2013; 92(1): 137-43. PMID: 23273567, PMCID: PMC3542462, PII: S0002-9297(12)00624-6, DOI: 10.1016/j.ajhg.2012.11.011, ISSN: 1537-6605.

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ, . Mutations in ECEL1 cause distal arthrogryposis type 5D. Am. J. Hum. Genet [print-electronic]. 2013 Jan 1/10/2013; 92(1): 150-6. PMID: 23261301, PMCID: PMC3542461, PII: S0002-9297(12)00627-1, DOI: 10.1016/j.ajhg.2012.11.014, ISSN: 1537-6605.

Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I, , Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J. Clin. Invest [print-electronic]. 2012 Jan; 122(1): 205-17. PMID: 22182842, PMCID: PMC3248284, PII: 46425, DOI: 10.1172/JCI46425, ISSN: 1558-8238.

Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M. Germline BAP1 mutations predispose to malignant mesothelioma. Nat. Genet. 2011 Aug 8/28/2011; 43(10): 1022-5. PMID: 21874000, PMCID: PMC3184199, PII: ng.912, DOI: 10.1038/ng.912, ISSN: 1546-1718.

Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, McKeigue PM, Parra EJ, Elbein SC, Hallman DM, Nicolae DL, Bell GI, Cruz M, Cox NJ, Hanis CL. Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. Diabetologia [print-electronic]. 2011 Aug; 54(8): 2047-55. PMID: 21647700, PMCID: PMC3761075, DOI: 10.1007/s00125-011-2188-3, ISSN: 1432-0428.

Parra EJ, Below JE, Krithika S, Valladares A, Barta JL, Cox NJ, Hanis CL, Wacher N, Garcia-Mena J, Hu P, Shriver MD, , Kumate J, McKeigue PM, Escobedo J, Cruz M. Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. Diabetologia [print-electronic]. 2011 Aug; 54(8): 2038-46. PMID: 21573907, PMCID: PMC3818640, DOI: 10.1007/s00125-011-2172-y, ISSN: 1432-0428.

Grassi MA, Tikhomirov A, Ramalingam S, Below JE, Cox NJ, Nicolae DL. Genome-wide meta-analysis for severe diabetic retinopathy. Hum. Mol. Genet [print-electronic]. 2011 Jun 6/15/2011; 20(12): 2472-81. PMID: 21441570, PMCID: PMC3098732, PII: ddr121, DOI: 10.1093/hmg/ddr121, ISSN: 1460-2083.

Below JE, Cox NJ, Fukagawa NK, Hirvonen A, Testa JR. Factors that impact susceptibility to fiber-induced health effects. J Toxicol Environ Health B Crit Rev. 2011; 14(1-4): 246-66. PMID: 21534090, PMCID: PMC3118508, PII: 936995939, DOI: 10.1080/10937404.2011.556052, ISSN: 1521-6950.

Pluzhnikov A, Below JE, Konkashbaev A, Tikhomirov A, Kistner-Griffin E, Roe CA, Nicolae DL, Cox NJ. Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping. Am. J. Hum. Genet. 2010 Jul 7/9/2010; 87(1): 123-8. PMID: 20598280, PMCID: PMC2896766, PII: S0002-9297(10)00308-3, DOI: 10.1016/j.ajhg.2010.06.005, ISSN: 1537-6605.

Fajans SS, Bell GI, Paz VP, Below JE, Cox NJ, Martin C, Thomas IH, Chen M. Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res [print-electronic]. 2010 Jul; 156(1): 7-14. PMID: 20621032, PMCID: PMC2904650, PII: S1931-5244(10)00074-5, DOI: 10.1016/j.trsl.2010.03.003, ISSN: 1878-1810.

Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM, , Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB, . A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes [print-electronic]. 2010 Feb; 59(2): 539-49. PMID: 19875614, PMCID: PMC2809960, PII: db09-0653, DOI: 10.2337/db09-0653, ISSN: 1939-327X.

Hayes MG, Pluzhnikov A, Miyake K, Sun Y, Ng MC, Roe CA, Below JE, Nicolae RI, Konkashbaev A, Bell GI, Cox NJ, Hanis CL. Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes [print-electronic]. 2007 Dec; 56(12): 3033-44. PMID: 17846124, PII: db07-0482, DOI: 10.2337/db07-0482, ISSN: 1939-327X.

Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI, . Insulin gene mutations as a cause of permanent neonatal diabetes. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2007 Sep 9/18/2007; 104(38): 15040-4. PMID: 17855560, PMCID: PMC1986609, PII: 0707291104, DOI: 10.1073/pnas.0707291104, ISSN: 0027-8424.