Lindsay A. Farrer, Ph.D.
Chief, Biomedical Genetics
BU Distinguished Professor of Genetics
Professor of Medicine, Neurology, Ophthalmology, Epidemiology, and Biostatistics
Director, Boston University Molecular Genetics Core Facility
Director, Boston University Transformative Training Program in Addiction Science
Selected Recent Publications
1. Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Clarke T-K, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu S-A, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley R, Costello EJ, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MW, Vrieze S, the Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Davis LK, Bogdan R, Gelernter J, Edenberg HJ, Stefansson K, Børglum AD, Agrawal A. Genome-wide association study meta-analysis of cannabis use disorder in over 380,000 individuals reveals distinct genetic architectures of cannabis use and use disorder. Lancet Psychiatry In press. https://www.thelancet.com/journals/lanpsy/article/PIIS2215-0366(20)30339-4/fulltext
2. Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Martinez I, Ayodele T, Crane PK, Buxbaum JD, Ertekin-Taner N, Logue M, Barnes LL, Cantwell LB, Jean-Francois, Kuzma AB, Adams LD, Fallin MD, Vance JM, Cuccaro ML, Manly JJ, Jun G, Chung J, Mez J, Go RC, Griffith P, Obisesan TO, Lunetta KL, Kamboh MI, Lopez OL, Alzheimer’s Disease Genetics Consortium (ADGC), Bennett DA, Hall KS, Hendrie H, Reiman E, Kowall N, Leverenz J, Small S, Levey A, Golde T, Saykin A, Albert M, Hyman B, Peterson R, Sano M, Wisniewski T, Vassar R, Kaye J, Henderson V, DeCarli C, LeFerla F, Brewer J, Miller B, Swerdlow R, Van Eldik L, Paulson H, Trojanowski JQ, Chui H, Rosenberg R, Craft S, Grabowski T, Asthan S, Morris J, StrittmatterS, Goate AM, Kukull WA, Foroud TM, Martin ER, Wang L-S, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C. Novel Alzheimer disease risk loci and pathways in African American individuals using the African Genome Resources panel: A meta-analysis. JAMA Psychiatry 2020. In press. https://jamanetwork.com/journals/jamaneurology/fullarticle/2771828
3. Lancour D, Dupuis J, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GC, Crovella M, Farrer LA, Kasif S. Analysis of brain region-specific co-expression networks reveals clustering of previously established and novel genes associated with Alzheimer disease. Alzheimer Res Ther 2020; 12(1):103. PMID: 32878640 https://alzres.biomedcentral.com/articles/10.1186/s13195-020-00674-7
4. Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton KL, Bush WS, Salerno W, Lancour D, Ma Y, Renton AE, Marcora EM, Farrell J, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues J-F, Debette S, Deleuze J-F, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance M, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes A, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton T, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan BN, Wang W, Wijsman E, Wilson RK, Witten D, Worley K, Zhang X, Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert J-C, Kurki M, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer’s-associated variants involved in immune response and transcriptional regulation. Mol Psychiatry 2020; 25:1859-1875. PMID: 30108311 https://www.nature.com/articles/s41380-018-0112-7
5. Fan CC. Banks SJ, Thompson WK, Chen C-H. McEvoy LK, Tan CH. Kukull W, Bennett DA, Farrer LA. Mayeux R, Schellenberg GD, Andreassen OA, Desikan R, Dale AM. Sex-dependent polygenic effects on the clinical progression of Alzheimer’s disease. Brain 2020; 143:2272-2280. PMID: 32591829 https://academic.oup.com/brain/article/doi/10.1093/brain/awaa164/5863662
6. Sherva R, Gross A, Mukherjee S, Koesterer R, Amouyel P, Bellenguez C, Bennett D, Chibnik L, Cruchaga C, Farrer LA, Kraft P, Mayeux R, Munsie L, Newhouse S, Saykin A, Schellenberg G, the Alzheimer’s Disease Genetics Consortium, Crane PK, Green RC. Genome-wide association study of rate of cognitive decline in Alzheimer’s disease patients identifies novel genes and pathways. Alzheimer Dement 2020; 16:1134-1145. PMID: 32573913 https://alz-journals.onlinelibrary.wiley.com/doi/full/10.1002/alz.12106
7. Cox J, Sherva R, Lunetta KL, Saitz R, Kon M, Kranzler HR, Gelernter J, Farrer LA. Identifying factors associated with opioid cessation in a biracial sample using machine learning. Explor Med 2020; 1:27-41. https://doi.org/10.37349/emed.2020.00003
8. Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Myers AJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene C, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Kramer P, Dickson DW, Frosch MP, Ghetti B, Wang L-S, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg G, Beecham GW, Montine TJ, Jun GR for the Alzheimer’s Disease Genetics Consortium. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Commun 2020; 11:667. PMID: 32015339 https://www.nature.com/articles/s41467-019-14279-8.pdf
9. Cox JW, Sherva RM, Lunetta KL, Johnson EC, Martin NG, Degenhardt L, Agrawal A, Nelson EC, Kranzler H, Gelernter J, Farrer LA. Genome-wide association study of opioid cessation. J Clin Med 2020; 9:180. PMID: 31936517 https://www.mdpi.com/2077-0383/9/1/180
10. Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Zhang X, Zhu C; Choi YY, Lim HJ, Park JE, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko P-W, Han J-W, Farrell J, Alzheimer’s Disease Neuroimaging Initative, Lunetta KL, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, An SSA, Won S, Choi S-M, Ha J-M, Lee H-W, Park KW, Lee YM, Choi SH, Rhee S, Kim K-W, Song WK, Lee JS, Song MK, Nho K, Jun GR, Kim SY, Choo IH, Lee DY, Kim BC, Kim H, Ikeuchi T, Farrer LA, Lee KH. APOE promoter polymorphism -219T/G is an effect modifier of the Influence of APOE ε4 on Alzheimer’s disease risk in a multiracial sample. J Clin Med 2019; 8(8). pii: E1236. PMID: 31426376 https://www.mdpi.com/2077-0383/8/8/1236/pdf
11. Handa,JT, Bowes Rickman C, DickAD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration. Nat Commun 2019; 10:3347. PMID: 31350409 https://www.nature.com/articles/s41467-019-11262-1
12. Ma Y, Zhang X, Jun G, Chung J, Naj AC, Belinguez C, Hamilton-Nelson K, Martin ER, Kunkle BW, Alzheimer Disease Sequencing Project, ADES-FR, Bis JC, DeStefano AL, Fornage M, van Duijn C, Bennett D, DeJager P, Mayeux R, Haines JL, Pericak-Vance MA, Seshadri S, Lambert J-C, Schellenberg GD, Lunetta KL, Farrer LA. Novel Alzheimer disease loci identified in subsets of whole exome sequencing data stratified by APOE genotype. JAMA Neurol 2019; 76:1099-1108. PMID: 31180460 https://jamanetwork.com/journals/jamaneurology/fullarticle/2735123
13. Ma Y, Jun GR, Chung J, Zhang X, Kunkle BW, Naj AC, White CC, De Jager PL, Bennett DA, Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, Farrer LA, Lunetta KL. CpG-related SNPs in the MS4A Region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell 2019; 18(4):e12964. PMID: 31144443 https://onlinelibrary.wiley.com/doi/epdf/10.1111/acel.12964
14. Wachman EM, Farrer LA. The genetics and epigenetics of Neonatal Abstinence Syndrome. Semin Fetal Neonatal Med 2019; 4:105-110 PMID: 30709700 https://www.sciencedirect.com/science/article/pii/S1744165X19300101?via%3Dihub
15. Patel D, Mez J, Vardarajan B, Staley L, Chung J, Zhang X, Farrell JJ, Rynkiewicz MJ, Cannon-Albright LA, Teerlink CC, Stevens J, Corcoran C, Gonzalez Murcia JD, Lopez OL, Alzheimer Disease Sequencing Project, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Kauwe JSK, Lunetta KL, Farrer LA. Association of rare coding mutations with Alzheimer disease and other dementias among adults of European ancestry. JAMA Network Open2019; 2(3):e191350. PMID: 30924900 https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2729478
16. Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Alzheimer’s Disease Sequencing Project, Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. A rare missense variant in CASP7 is associated with familial late-onset Alzheimer disease. Alzheimer Dement 2019; 15:441-452. PMID: 30503768 https://www.sciencedirect.com/science/article/pii/S1552526018335799?via%3Dihub
17. Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests using common variants for complex disease. Eur J Hum Genet 2019; 27:811-823. PMID: 30683923 https://www.nature.com/articles/s41431-018-0327-8
18. Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, The Alzheimer’s Disease Neuroimaging Initiative, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer disease endophenotypes at prediagnosis stages. Alzheimers Dement 2018; 14:623-633. PMID: 29274321 http://www.sciencedirect.com/science/article/pii/S1552526017338426
19. Lancour D, Naj A, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GC, Crovella M, Farrer LA, Kasif S. One for all and all for one: improving replication of genetic studies through network diffusion. PLoS Genet 2018; 14(4):e1007306. PMID: 29684019 http://www.journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007306
20. Ikezu T, Chen C, DeLeo AM, Zeldich E, Fallin MD, Kanaan NM, Lunetta KL, Abraham CR, Logue MW, Farrer LA. Tau phosphorylation is impacted by rare AKAP9 mutations associated with Alzheimer disease. J Neuroimmune Pharmol2018; 13:254-264. PMID: 29516269 https://link.springer.com/article/10.1007%2Fs11481-018-9781-x
21. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beecham G, Montine, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Lunetta KL, Mez J, Alzheimer Disease Genetics Consortium, Mayeux R, Haines J, Pericak-Vance M, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer disease. Alzheimers Res Ther 2018;10:22. PMID:29458411 https://alzres.biomedcentral.com/articles/10.1186/s13195-018-0349-z
22. Jun G, Chung J, Mez, J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carasquillo M, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JSK, Kukull WA, Kunkle BW, Kuwano R, Logue MW, Manly JJ, Larson EB, Martin ER, Montine TJ, Naj A, Reiman EM, Reitz C, Sherva R, St. George-Hyslop PH, Younkin SG, Vardarajan BN, Wang L-S, Wendlund JR, Winslow AR, Alzheimer Disease Genetics Consortium, Haines J, Mayeux R, Pericak-Vance MA, Schellenberg G, Lunetta K, Farrer LA. Transethnic Genome-Wide Scan Identifies Novel Alzheimer Disease Loci. Alzheimers Dement 2017; 13:727-738. PMID: 28183528 http://www.sciencedirect.com/science/article/pii/S1552526017300031
23. Smith AH, Jensen KP, Li J, Nunez Y, Farrer LA, Hakonarson H, Cook-Sather SD, Kranzler HR, Gelernter J. Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. Mol Psychiatry 2017; 22:346-352. PMID: 28115739 https://www.ncbi.nlm.nih.gov/pubmed/28115739
24. Mez J, Chung J, Jun G, Kriegel J, Bourlas AP, Sherva R, Logue MW, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Fallin MD, Foroud T, Goate A, Graff-Radford NR, Kamboh MI, Kukull WA, Manly JJ, Alzheimer Disease Genetics Consortium, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Farrer LA. Identification of two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans using informed conditioning on clinical covariates. Alzheimers Dement 2017; 13:119-129. PMID: 27770636 http://www.sciencedirect.com/science/article/pii/S1552526016329314
25. Wachman EM, Hayes MJ, Sherva R, Brown MS, Shrestha H, Logan BA, Heller NA, Nielsen DA, Farrer LA. Association of maternal and infant variants in PNOC and COMT genes with neonatal abstinence syndrome severity. Am J Addict 2017; 26:42-49. PMID: 27983768 http://onlinelibrary.wiley.com/doi/10.1111/ajad.12483/abstract
26. Jensen KP, Smith AH, Herman AI, Farrer LA, Kranzler HR, Sofuoglu M, Gelernter J. A protocadherin gene cluster regulatory variant is associated with nicotine withdrawal and the urge to smoke. Mol Psychiatry 2017; 22:242-249. PMID:27067016 http://www.nature.com/mp/journal/vaop/ncurrent/pdf/mp201643a.pdf
Jaeyoon Chung, Ph.D.
Research Assistant Professor of Medicine
Selected Publications
1. Chung J, Marini S, Pera J, Norrving B, Jimenez-Conde J, Roquer J, Fernandez-Cadenas I, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Demel S, Greenberg SM, Slowik A, Lindgren A, Schmidt R, Traylor M, Sargurupremraj M, Tiedt S, Malik R, Debette S, Dichgans M, Langefeld CD, Woo D, Rosand J, Anderson CD. Genome-wide Association Study of Cerebral Small Vessel Disease Reveals Established and Novel Loci. Brain. 2019. PubMed PMID: 31430377
2. Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. Eur J Hum Genet. 2019. PubMed PMID: 30683923.
3. Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer’s disease endophenotypes at prediagnosis stages. Alzheimers Dement. 2018;14(5):623-633. PubMed PMID: 29274321.
4. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beecham G, Montine TJ, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Lunetta KL, Mez J, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease.Alzheimers Res Ther. 2018;10(1):22. PubMed PMID: 29458411.
5. Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JSK, Kukull WA, Kunkle BW, Kuwano R, Larson EB, Logue MW, Manly JJ, Martin ER, Montine TJ, Mukherjee S, Naj A, Reiman EM, Reitz C, Sherva R, St George-Hyslop PH, Thornton T, Younkin SG, Vardarajan BN, Wang LS, Wendlund JR, Winslow AR, Haines J, Mayeux R, Pericak-Vance MA, Schellenberg G, Lunetta KL, Farrer LA. Transethnic genome-wide scan identifies novel Alzheimer’s disease loci. Alzheimers Dement. 2017;13(7):727-738. PubMed PMID: 28183528.
6. Mez J, Chung J, Jun G, Kriegel J, Bourlas AP, Sherva R, Logue MW, Barnes LL, Bennett DA, Buxbaum JD, Byrd GS, Crane PK, Ertekin-Taner N, Evans D, Fallin MD, Foroud T, Goate A, Graff-Radford NR, Hall KS, Kamboh MI, Kukull WA, Larson EB, Manly JJ, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Farrer LA. Two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans. Alzheimers Dement. 2017;13(2):119-129. PubMed PMID: 27770636.
Shoumita Dasgupta, Ph.D.
Professor of Medicine
Selected Publications
2. K Hyland, K Garber, and S Dasgupta (2019) From Helices to Health: Undergraduate Medical Education in Genetics and Genomics. Personalized Medicine. https://doi.org/10.2217/pme-2018-0081.
3. MA Campion, C Goldgar, RJ Hopkin, CA Prows, and S Dasgupta (2019) Genomic Education for the Next Generation of Healthcare Providers. Genetics in Medicine. https://doi.org/10.1038/s41436-019-0548-4.
4. H-Y Park, O Berkowitz, K Symes, and S Dasgupta (2018) The Art and Science of Selecting Graduate Students in the Biomedical Sciences: Performance in Doctoral Study of the Foundational Sciences. PLOS ONE. doi: 10.1371/journal.pone.0193901.
5. Niederhoffer EC, Cline SD, Osheroff N, Simmons JM, Diekman AB, Franklin DS, Abali EE, Bateman RC, Fontes JD, Lindsley JE, Pearson D, Rubenstein PA, Slaughter CA, Bernstein JA, Hyland KM, Park VM, Sobering AK, Weiler TA, Dasgupta S. Teaching Biochemistry and Genetics to Students of Dentistry, Medicine, and Pharmacy 6th International Conference of the Association of Biochemistry Educators (ABE) Clearwater Beach, FL, USA, May 7-11, 2017. Med Sci Educ. 2017 Dec; 27(4):855-859. PMID: 29291139.Read at: PubMed
6. Hyland K, Dasgupta S. Medical genetics and genomics education and its impact on genomic literacy of the clinical workforce. Genet Med. 2017 Sep 14. PMID: 28914266.Read at: PubMed
7. Jin H and Dasgupta S. Genetics in LGB Assisted Reproduction: Two Flipped Classroom, Progressive Disclosure Cases. MedEdPORTAL Publications. 2017; (13):10607.Read at: Custom
8. Dasgupta S. Medical genetics ethics case collection: discussion materials for medical students in the genomic era. MedEdPORTAL Publications. 2017; (13):10562.Read at: Custom
9. Mundluru SN, Therkelsen KE, Verscaj CP, Dasgupta S. Conflicts Between Non-Directive Counseling and Unbiased Patient Care: the Influence of Medical Students’ Personal Beliefs on Proposed Huntington’s Disease Genetic Testing Recommendations. Medical Science Educator. 2016.Read at: Custom
10. Jin H, Dasgupta S. Disparities between online assisted reproduction patient education for same-sex and heterosexual couples. Hum Reprod. 2016 Oct; 31(10):2280-4. PMID: 27530417.Read at: PubMed
11. Dasgupta S. Common Threads: Reflective Practice Connecting Medical Genetics Concepts Across and Integrated Curriculum. Medical Science Educator. 2016. Read at: Custom
12. Garber KB, Hyland KM, Dasgupta S. Participatory Genomic Testing as an Educational Experience. Trends Genet. 2016 Jun; 32(6):317-20. PMID: 27117243. Read at: PubMed
13. Dasgupta S. Differential Acceptance of Genomic Medicine Approaches Between Future and Practicing Physicians. Medical Science Educator. 2015. Read at: Custom
Gyungah Jun, Ph.D.
Assistant Professor of Medicine, Ophthalmology, and Biostatistics
Selected Publications
1. Friedberg JS, Aytan N, Cherry JD, Xia W, Standring OJ, Alvarez VE, Nicks R, Svirsky S, Meng G, Jun G, Ryu H, Au R, Stein TD. Associations between brain inflammatory profiles and human neuropathology are altered based on apolipoprotein E ɛ4 genotype. Scientific Reports. 2020;10:2924. PMID: 32076055.
2. Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J, Paul Vonsattel J, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Keene CD, Kamboh MI, Kofler JK, Duque L, Gilbert JR, Gwirtsman HE, Buxbaum JD, Dickson DW, Frosch MP, Ghetti BF, Lunetta KL, Wang LS, Hyman BT, Kukull WA, Foroud T, Haines JL, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Farrer LA, Schellenberg GD, Beecham GW, Montine TJ, Jun GR; Alzheimer’s Disease Genetics Consortium. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nat Commun. 2020 Feb 3;11(1):667. PMID: 32015339.
3. Arboleda-Velasquez JF, Lopera F, O’Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report. Nat Med. 2019 Nov;25(11):1680-1683. PMID: 31686034.
4. Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Lim HJ, Zhang X, Zhu C, Won SY, Choi YY, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko PW, Han JW, McLean C, Farrell J, Lunetta KL, Miyashita A, Hara N, Won S, Choi SM, Ha JM, Jeong JH, Kuwano R, Song MK, An SSA, Lee YM, Park KW, Lee HW, Choi SH, Rhee S, Song WK, Lee JS, Mayeux R, Haines JL, Pericak-Vance MA, Choo ILH, Nho K, Kim KW, Lee DY, Kim S, Kim BC, Kim H, Jun GR, Schellenberg GD, Ikeuchi T, Farrer LA, Lee KH, Neuroimaging Initative AD. APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer’s Disease Risk in a Multiracial Sample. J Clin Med. 2019 Aug 16;8(8). PMID: 31426376.
5. Ma Y, Jun GR, et al. CpG-related SNPs in the MS4A Region have a Dose-Dependent Effect on Risk of Late-onset Alzheimer Disease. Aging Cell. 2019 Aug;18(4):e12964. PMID: 31144443.
6. Ma Y, Jun GR, et al. Novel Alzheimer’s Disease Identified in Subsets of Whole Exome Sequencing Data Stratified by APOE Genotype. JAMA Neurol. 2019 Jun 10. PMID: 31180460.
7. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beechan G, Montine TJ, Golde TE, Price ND, Ertekin-Taner N, Junetta KL, Mez J, Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease. Alzheimers Res Ther. 2018 Feb 20;10(1):22. PMID: 29458411.
8. Chung J, Jun GR, Dupuis J, Farrer LA. Comparison of methods for multivariate gene-based association tests for complex diseases using common variants. Eur J Hum Genet. 2019 Jan 25. PMID: 30683923.
9. Chung J, Wang X, Maruyama T, Ma Y, Zhang X, Mez J, Sherva R, Takeyama H, ADNI, Lunetta KL, Farrer LA, Jun GR. Genome-wide association study of Alzheimer’s disease endophenotypes at prediagnosis stages. Alzheimers Dement. 2017 Dec 20. pii: S1552-5260(17)33842-6. doi: 10.1016/j.jalz.2017.11.006. PMID: 29274321.
10. Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, Foroud TM, Friedland RP, Goate AM, Graff-Radford NR, Hendrie H, Hall KS, Hamilton-Nelson KL, Inzelberg R, Kamboh MI, Kauwe JSK, Kukull WA, Kunkle BW, Kuwano R, Larson EB, Logue MW, Manly JJ, Martin ER, Montine TJ, Mukherjee S, Naj A, Reiman EM, Reitz C, Sherva R, St George-Hyslop PH, Thornton T, Younkin SG, Vardarajan BN, Wang LS, Wendlund JR, Winslow AR; Alzheimer’s Disease Genetics Consortium, Haines J, Mayeux R, Pericak-Vance MA, Schellenberg G, Lunetta KL, Farrer LA. Transethnic genome-wide scan identifies novel Alzheimer disease loci. Alzheimers Dement. 2017;13(7):727-738. PMID: 28183528.
11. Mez J, Chung J, Jun G, et al. Two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans. Alzheimers Dement. 2017;13(2):119-129. PMID: 27770636.
12. Jun G, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016;21:108-17. PMID: 25778476.
13. Jun G, et al. PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Ann Neurol. 2014;76(3):379-92. PMID: 25043464.
14. Naj AC, Jun G, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol. 2014; 71(11):1394-404. PMID: 25199842.
15. Reitz C, Jun G, et al. Variants in the ATP-binding cassette transporter (ABCA7), Apolipoprotein E e4, and the risk of late-onset Alzheimer’s disease in African Americans. 2013;309(14):1483-92. PMID: 23571587.
16. Miyashita A*, Koike A*, Jun G*, et al. SORL1 is genetically associated with late-onset Alzheimer’s disease in Japanese, Koreans, and Caucasians. PLoS One. 2013;8(4):e58618. PMID: 23565137.
17. Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, George-Hyslop P, Goldstein LE, Farrer LA. 2012. Delta-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. PLoS One. 2012;7(9):e43728. PMID: 22984439.
18. Jun G, Vardarajan BN, Buros J, Yu CE, Hawk MV, Dombroski BA, Crane PK, Larson EB; Alzheimer’s Disease Genetics Consortium, Mayeux R, Haines JL, Lunetta KL, Pericak-Vance MA, Schellenberg GD, Farrer LA. 2012. A comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol. 2012; 69;1270-1279. PMID: 22869155.
19. Jun G, Nicolaou M, Morrison MA, Buros J, Morgan DJ, Radeke MJ, Yonekawa Y, Tsironi EE, Kotoula MG, Zacharaki F, Mollema N, Yuan Y, Miller JW, Haider NB, Hageman GS, Kim IK, Schaumberg DA, Farrer LA, DeAngelis MM. Influence of ROBO1 and RORA on Risk of Age-related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology. PLoS One. 2011;6(10):e25775. PMID: 21998696.
20. Naj AC*, Jun G*, et al. Common variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet. 2011;43(5):436-41. PMID: 21460841.
21. Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer’s Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer’s disease risk loci and reveals interactions with APOE genotypes. Arch Neurol. 2010;67(12):1473-84. PMID: 20697030.
Mark W. Logue, Ph.D.
Associate Professor of Psychiatry and Medicine
Selected Publications
1. Logue MW, van Rooij SJH, Dennis EL, Davis SL, Hayes JP, Stevens JS, Densmore M, Haswell CC, Ipser J, Koch SB, Korgaonkar M, Lebois LAM, Peverill M, Baker JT, Boedhoe PSW, Frijling JL, Gruber SA, Harpaz-Rotem I, Jahanshad N, Koopowitz S, Levy I, Nawijn L, O’Connor L, Olff M, Salat DH, Sheridan MA, Spielberg JM, van Zuiden M, Winternitz SR, Wolff JD, Wolf EJ, Wang X, Wrocklage K, Abdallah CG, Bryant RA, Geuze E, Jovanovic T, Kaufman ML, King AP, Krystal JH, Lagopoulos J, Lanius R, Liberzon I, McGlinchey RE, McLaughlin KA, Milberg WP, Miller MW, Ressler KJ, Veltman DJ, Stein DJ, Thomaes K, Thompson PM, Morey RA. 2018. Smaller Hippocampal Volume in Posttraumatic Stress Disorder: A Multi-Site ENIGMA-PGC Study. Biological Psychiatry. 83(3):244-253.
2. Logue MW, Smith AK, Wolf, EJ, Maniates H, Stone A, Schichman, SA, McGlinchey RE, Milberg W, Miller MW. 2017. The correlation of methylation levels measured using Illumina 450K and EPIC BeadChips in blood samples. Epigenomics. 9:1363-1371.
3. Logue MW, Amstadter AB, Baker DG, Duncan L, Koenen KC, Liberzon I, Miller MW, Morey RA, Nievergelt CM, Ressler KJ, Smith AK, Smoller JW, Stein MB, Sumner JA, Uddin M. 2015. The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic stress disorder enters the age of large-scale genomic collaboration. Neuropsychopharmacology. 40(10):2287-97. PMCID: PMC4538342
4. Logue MW, Smith AK, Baldwin C, Wofl EJ, Guffanti G, Ratanatharathorn A, Stone A, Schichman SA, Humphries D, Binder EB, Arloth J, Menke A, Uddin M, Wildman D, Galea S, Aiello AE, Koenen KC, Miller MW. 2015. An analysis of gene expression in PTSD implicates genes involved in the glucocorticoid receptor pathway and neural responses to stress. Psychoneuroendocrinology. 57:1-13. PMCID: PMC4437870
5. Logue MW, Schu M, Vardarajan B, Farrell J, Bennett DA, Buxbaum JD, Byrd GS, Ertekin-Taner N, Evans D, Foroud T, Goate A, Graff-Radford NR, Kamboh MI, Kukull WA, Manly JJ, Alzheimer Disease Genetics Consortium, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Baldwin CT, Fallin MD, Farrer LA. 2014. Two rare AKAP9 variants are associated with Alzheimer disease in African Americans. Alzheimer and Dementia 10(6):609-618.e11. PMCID: PMC4253055.
6. Logue MW, Baldwin C, Guffanti G, Melista E, Wolf EJ, Reardon AF, Uddin M, Wildman D, Galea S, Koenen KC, Miller MW. 2013. A genome-wide association study of post-traumatic stress disorder identifies the retinoid-related orphan receptor alpha (RORA) gene as a significant risk locus. Molecular Psychiatry. 18, 397-342. PMCID: PMC3494788.
7. Reitz C, Jun G, Naj A, Rajbhandary R,Vardarajan B, Wang L, PhD; Valladares O, Lin C, Larson EB, Graff-Radford NR, Evans D, MD; Philip L. De Jager PL, MD, PhD; Crane PK, MD, MPH; Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, MD, MPH; Barnes LL, Cantwell LB, Fallin MD, Go RCP, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Mayeux R, for the Alzheimer Disease Genetics Consortium. 2013. Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4,and the Risk of Late-Onset Alzheimer Disease in African Americans. JAMA. 309(14):1483-1492. PMCID: PMC3667653.
8. Logue MW, Schu, M, Vardarajan BN, Buros, J, Green RC, Go RCP, Griffith, P, Obisesan, TO, Shatz R, Borenstein A, Cupples, LA, Lunetta KL, Fallin MD, Baldwin CT, Farrer LA. 2011. A Comprehensive Genetic Association Study of Alzheimer Disease in African Americans. Archives of Neurology, 68:1569-1579. PMCID: PMC3356921.
9. Logue MW, Schu MS, Vardarajan BN, Farrell J, Lunetta LK, Jun G, Baldwin CT, DeAngelis MM, Farrer LA, 2014. A search for AMD risk variants in Alzheimer disease genes and pathways. Neurobiology of Aging. 35(6):1510.e7-1510.e18. PMCID: PMC3961547
10. Logue MW, Solovieff N, Leussis MP, Wolf EJ, Melista E, Baldwin C, Koenen KC, Petryshen T, Miller MW. 2013. The ankyrin-3 gene is associated with posttraumatic stress disorder and externalizing comorbidity. Psychoneuroendocrinology 38(10), 2249-2257. PMCID: PMC3775967
Richard Sherva, Ph.D.
Research Assistant Professor of Medicine
Selected Publications
1. Richard Sherva, Michael Miller, Amy Lynch, Richard Devereux, D.C. Rao, Albert Oberman, Paul Hopkins, Dalane Kitzman, Larry Atwood, Donna Arnett. A Whole Genome Scan for Pulse Pressure/Stroke Volume Ratio in African Americans: The HyperGEN Study. Am J Hypert. 2007 Apr; 20(4):398-402.
2. Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007 Jul 1.
3. Richard Sherva, Pin Yue, Gustav Schonfeld, Rosalind Neuman. Evidence for a QTL affecting low levels of apolipoprotein B and low-density lipoprotein on chromosome 10 in Caucasian families. J Lipid Res. 2007 Dec;48(12):2632-9.
4. Richard Sherva, Lingwei Sun, Joanna Biernacka, Rosalind Neuman. No evidence for multiple loci affecting rheumatoid arthritis risk on chromosome 6p21. BMC Proceedings 2007, 1(Suppl 1):S42
5. Richard Sherva, Michael B. Miller, James S. Pankow, Steven C. Hunt, Eric Boerwinkle, Thomas H. Mosley, Alan B. Weder, J. David Curb, Amy Luke, Alanna C. Morrison, Myriam Fornage, Donna K. Arnett. A whole-genome scan for stroke or myocardial infarction in family blood pressure program families. Stroke. 2008 Apr;39(4):1115-20.
6. Latisha Love-Gregory, Richard Sherva, Lingwei Sun, John Wasson, Timothy Schappe, DC Rao, Steven C. Hunt, Samuel Klein, Rosalind J. Neuman, M. Alan Permutt, Nada A Abumrad. Variants in the CD36 Gene Associate with the Metabolic Syndrome and High Density Lipoprotein Cholesterol. Hum Mol Genet. 2008 Feb 27.
7. Richard Sherva, Kirk Wilhelmsen, Cynthia S. Pomerleau, Scott A. Chasse, John P. Rice, Sandy M. Snedecor, Laura J. Bierut, Rosalind J. Neuman, Ovide F. Pomerleau. Association of a SNP in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with positive experience (“pleasurable buzz”) during initial smoking. Addiction. 2008 Sep;103(9):1544-52.
8. Inês Barroso, Jian’an Luan, Eleanor Wheeler, Pamela Whittaker, Jon Wasson, Eleftheria Zeggini, Michael N. Weedon, Sarah Hunt, Ranganath Venkatesh, Timothy M Frayling, Marcos Delgado, Rosalind J. Neuman, Jinghua Zhao, Richard Sherva, Benjamin Glaser, Mark Walker, Graham Hitman, Mark I McCarthy, Andrew T Hattersley, M. Alan Permutt, Nicholas J. Wareham, Panagiotis Deloukas. Population-specific risk of type 2 diabetes (T2D) conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes. 2008 Nov;57(11):3161-5. Epub 2008 Aug 26
9. John J. Farrell, Richard M. Sherva, Zhi-yi Chen, Hong-yuan Luo, Benjamin F. Chu, Shau Yin Ha, Chi Kong Li, Anselm C.W. Lee, Rever C.H. Li, Chi Keung Li, Hui Leung Yuen, Jason C.C. So, Edmond S.K. Ma, Li Chong Chan, Vivian Chan, Paola Sebastiani, Lindsay A. Farrer, Clinton T. Baldwin, Martin H. Steinberg, and David H.K. Chui. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood First Edition Paper, prepublished online March 8, 2011;DOI 10.1182/blood-2010317081[Abstract][PDF][Supplemental Tables and Figures]
Sam Thiagalingam, Ph.D.
Associate Professor of Medicine, Genetics & Genomics, and Pathology & Laboratory Medicine
Selected Publications
1. Thiagalingam S.2020. Epigenetic memory in development and disease: unraveling the mechanism. Biochim Biophys Acta Rev Cancer. 2020 Jan 23; 1873(2):188349. View in: PubMed
2. Wong CK, Lambert AW, Ozturk S, Papageorgis P, Lopez D, Shen N, Sen Z, Abdolmaleky HM, Győrffy B, Hui F, and Thiagalingam S. 2020. Targeting RICTOR sensitizes SMAD4-negative colon cancer to Irinotecan. Mol Cancer Res. 2020 Mar; 18(3):414-423. View in: PubMed https://www.drugtargetreview.com/news/54770/rictor-mtorc2-pathway-inhibition-could-make-chemotherapy-more-effective/; https://medicalxpress.com/news/2020-01-molecular-therapeutic-colon-cancer.html
3. Wong CK, Gromisch C, Ozturk S, Papageorgis P, Abdolmaleky HM, Reinhard BM, Thiagalingam A, Thiagalingam S. 2019.MicroRNA-4417 is a tumor suppressor and prognostic biomarker for triple-negative breast cancer. Cancer Biol Ther. 2019; 20(8):1113-1120. View in: PubMed
4. Abdolmaleky HM, Gower A, Wong CK, Cox JW, Thiagalingam A, Zhang X, Shafa R, Sivaraman V, Zhou J-R, and Thiagalingam S. 2018. Aberrant transcriptomes and DNA methylomes define pathways that drive pathogenesis and loss of brain asymmetry in schizophrenia and bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2019 03; 180(2):138-149. View in: PubMed
5. Ozturk S, Papageorgis P, Wong CK, Lambert AW, Abdolmaleky HM, Thiagalingam A, Cohen HT, Thiagalingam S. SDPR functions as a metastasis suppressor in breast cancer by promoting apoptosis. Proc Natl Acad Sci U S A. 2016; 113(3):638-43. View in: PubMed Editors’ choice: Science: Vol. 351, Issue 6271, pp. 351. http://science.sciencemag.org/content/351/6271/twil; In the news: http://health-innovations.org/2016/01/11/major-epigenetic-metastasis-supressor-identified-for-breast-cancer/
6. Lambert AW, Wong CK, Ozturk S, Papageorgis P, Raghunathan R, Alekseyev Y, Gower AC, Reinhard BM, Abdolmaleky HM, Thiagalingam S. Tumor Cell-Derived Periostin Regulates Cytokines That Maintain Breast Cancer Stem Cells. Mol Cancer Res. 2016; 14(1):103-13. View in: PubMed Highlights: http://mcr.aacrjournals.org/content/14/1/1.full.pdf+html; In the news: http://bit.ly/1WOWyD5
7. Papageorgis P, Ozturk S, Lambert AW, Neophytou CM, Tzatsos A, Wong CK, Thiagalingam S., Constantinou AI. Targeting IL13Ralpha2 activates STAT6-TP63 pathway to suppress breast cancer lung metastasis. Breast Cancer Res. 2015; 17(1):98. View in: PubMed In the news: http://tinyurl.com/o2c9net; http://tinyurl.com/pflox4o
8. Thiagalingam S. Systems Biology of Cancer, S. Thiagalingam (Ed), Cambridge University Press, UK, 2015; Chapters 1-32: 1-531. www.cambridge.org/9780521493390
9. Abdolmaleky HM, Zhou JR, Thiagalingam S. An update on the epigenetics of psychotic diseases and autism. Epigenomics. 2015; 7(3):427-49. View in: PubMed
10. Papageorgis P, Cheng K, Ozturk S, Gong Y, Lambert AW, Abdolmaleky HM, Zhou JR, Thiagalingam S. Smad4 inactivation promotes malignancy and drug resistance of colon cancer. Cancer Res. 2011; 71(3):998-1008. View in: PubMed
11. Papageorgis P, Lambert AW, Ozturk S, Gao F, Pan H, Manne U, Alekseyev YO, Thiagalingam A, Abdolmaleky HM, Lenburg M, Thiagalingam S. Smad signaling is required to maintain epigenetic silencing during breast cancer progression. Cancer Res. 2010; 70(3):968-78. View in: PubMed
12. Abdolmaleky HM, Cheng KH, Faraone SV, Wilcox M, Glatt SJ, Gao F, Smith CL, Shafa R, Aeali B, Carnevale J, Pan H, Papageorgis P, Ponte JF, Sivaraman V, Tsuang MT, Thiagalingam S. Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder. Hum Mol Genet. 2006; 15(21):3132-45. View in: PubMed
13. Thiagalingam S. A cascade of modules of a network defines cancer progression. Cancer Res. 2006; 66(15):7379-85. View in: PubMed
14. Abdolmaleky HM, Cheng KH, Russo A, Smith CL, Faraone SV, Wilcox M, Shafa R, Glatt SJ, Nguyen G, Ponte JF, Thiagalingam S., Tsuang MT. Hypermethylation of the reelin (RELN) promoter in the brain of schizophrenic patients: a preliminary report. Am J Med Genet B Neuropsychiatr Genet. 2005; 134B(1):60-6. View in: PubMed
15. Thiagalingam S,Laken S, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B, Lengauer C. Mechanisms underlying losses of heterozygosity in human colorectal cancers. Proc Natl Acad Sci U S A. 2001; 98(5):2698-702. View in: PubMed
16. Thiagalingam S, Lengauer C, Leach FS, Schutte M, Hahn SA, Overhauser J, Willson JK, Markowitz S, Hamilton SR, Kern SE, Kinzler KW, Vogelstein B. Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet. 1996; 13(3):343-6. View in: PubMed
17. Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B. Mad-related genes in the human. Nat Genet. 1996; 13(3):347-9. View in: PubMed
18. Thiagalingam S, Grossman L. The multiple roles for ATP in the Escherichia coli UvrABC endonuclease-catalyzed incision reaction. J Biol Chem. 1993; 268(24):18382-9. View in: PubMed
19. Grossman L, Thiagalingam S. Nucleotide excision repair, a tracking mechanism in search of damage. J Biol Chem. 1993; 268(23):16871-4. View in: PubMed
20. Oliner JD, Pietenpol JA, Thiagalingam S, Gyuris J, Kinzler KW, Vogelstein B. Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53. Nature. 1993; 362(6423):857-60. View in: PubMed
21. Kern SE, Pietenpol JA, Thiagalingam S, Seymour A, Kinzler KW, Vogelstein B. Oncogenic forms of p53 inhibit p53-regulated gene expression. Science. 1992; 256(5058):827-30. View in: PubMed
Huiping Zhang, Ph.D.
Associate Professor of Psychiatry and Medicine
Selected Publications
1. Wachman E, Wang A, Isley B, Boateng J, Beierle J, Hansbury A, Shrestha H, Bryant C, Zhang H. Placental OPRM1DNA methylation and associations with neonatal opioid withdrawal syndrome, a pilot study. Explor Med. 2020;1:[Online First]. https://doi.org/10.37349/emed.2020.00009.
2. Lin H, Wang F, Rosato AJ, Farrer LA, Henderson DC, Zhang H. Prefrontal cortex eQTLs/mQTLs enriched in genetic variants associated with alcohol use disorder and other diseases. Epigenomics. 2020 June 4. [Epub ahead of print] PubMed PMID: 32496132
3. Lin Y, Kranzler HR, Farrer LA, Xu H, Henderson DC, Zhang H. An analysis of the effect of mu-opioid receptor gene (OPRM1) promoter region DNA methylation on the response of naltrexone treatment of alcohol dependence. Pharmacogenomics J. 2020 Feb 7. [Epub ahead of print] PubMed PMID: 32029903.
4. Rosato AJ, Chen X, Tanaka Y, Farrer LA, Kranzler HR, Nunez YZ, Henderson DC, Gelernter J, Zhang H. Salivary microRNAs identified by small RNA sequencing and machine learning as potential biomarkers of alcohol dependence. Epigenomics. 2019; 11(7):739-749.
5. Zhang H, Zhou H, Lencz T, Farrer LA, Kranzler HR, Gelernter J. Genome-wide association study of cognitive flexibility assessed by the Wisconsin Card Sorting Test. Am J Med Genet B Neuropsychiatr Genet. 2018; 177(5):511-519.
6. Xu H, Wang F, Kranzler HR, Gelernter J, Zhang H. Alcohol and nicotine codependence-associated DNA methylation changes in promoter regions of addiction-related genes.
Scientific Reports. 2017; 7:41816.
7. Zhang H, Gelernter J. DNA methylation and alcohol use disorders: Progress and challenges. Am J Addict. 2017; 26(5):502-515.
8. Wang F, Xu H, Zhao H, Gelernter J, Zhang H. DNA co‐methylation modules in postmortem prefrontal cortex tissues of European Australians with alcohol use disorders. Scientific Reports. 2016; 6:19430.
9. Xiang Y, Kim KY, Gelernter J, Park IH, Zhang H. Ethanol upregulates NMDA receptor subunit gene expression in human embryonic stem cell‐derived cortical neurons. PLoS One. 2015; 10(8):e0134907.
10. Zhang H, Wang F, Xu H, Liu Y, Liu J, Zhao H, Gelernter J. Differentially co‐expressed genes in postmortem prefrontal cortex of individuals with alcohol use disorders: influence on alcohol metabolism‐related pathways. Hum Genet. 2014; 133(11):1383‐94.
11. Zhang H, Wang F, Kranzler HR, Yang C, Xu H, Wang Z, Zhao H, Gelernter J. Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes. Hum Genet. 2014; 133(9):1093‐104.
12. Xu H, Wang F, Liu Y, Yu Y, Gelernter J, Zhang H. Sex‐biased methylome and transcriptome in human prefrontal cortex. Hum Mol Genet. 2014; 23(5):1260‐70.
13. Wang F, Gelernter J, Zhang H. Differential Expression of miR‐130a in Postmortem Prefrontal Cortex of Subjects with Alcohol Use Disorders. J Addict Res Ther. 2013; 4(155). pii: 18179.
14. Li Z, Zhang H. Analyzing Interaction of μ-, δ- and κ-opioid Receptor Gene Variants on Alcohol or Drug Dependence Using a Pattern Discovery-based Method. J Addict Res Ther. 2013; Suppl 7:007.
15. Zhang H, Wang F, Kranzler HR, Zhao H, Gelernter J. Profiling of childhood adversity‐associated DNA methylation changes in alcoholic patients and healthy controls. PLoS One. 2013; 8(6):e65648.
16. Wang F, Simen A, Arias A, Lu QW, Zhang H. A large-scale meta-analysis of the association between the ANKK1/DRD2 Taq1A polymorphism and alcohol dependence. Hum Genet. 2013; 132(3):347-58.
17. Barker JM, Zhang Y, Wang F, Taylor JR, Zhang H. Ethanol-induced Htr3a promoter methylation changes in mouse blood and brain. Alcohol Clin Exp Res. 2013; 37 Suppl 1:E101-7.
18. Zhang H, Herman AI, Kranzler HR, Anton RF, Zhao H, Zheng W, Gelernter J. Array‐based profiling of DNA methylation changes associated with alcohol dependence. Alcohol Clin Exp Res. 2013; 37 Suppl 1:E108‐15.
19. Wang F, Gelernter J, Kranzler HR, Zhang H. Identification of POMC exonic variants associated with substance dependence and body mass index. PLoS One. 2012; 7(9):e45300.
20. Zhang H, Herman AI, Kranzler HR, Anton RF, Simen AA, Gelernter J. Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence. J Hum Genet. 2012; 57(10):670‐5.
21. Zhang H, Wang F, Kranzler HR, Anton RF, Gelernter J. Variation in regulator of G‐protein signaling 17 gene (RGS17) is associated with multiple substance dependence diagnoses. Behav Brain Funct. 2012; 8:23.
22. Zhang H, Gelernter J, Gruen JR, Kranzler HR, Herman AI, Simen AA. Functional impact of a single‐nucleotide polymorphism in the OPRD1 promoter region. J Hum Genet. 2010; 55(5):278‐84.
23. Zhang H, Kranzler HR, Poling J, Gelernter J. Variation in the nicotinic acetylcholine receptor gene cluster CHRNA5‐CHRNA3‐CHRNB4 and its interaction with recent tobacco use influence cognitive flexibility. Neuropsychopharmacology. 2010; 35(11):2211‐24.
24. Zhang H, Smith GN, Liu X, Holden JJ. Association of MAOA, 5-HTT, and NET promoter polymorphisms with gene expression and protein activity in human placentas. Physiol Genomics. 2010; 42(1):85-92.
25. Zhang H, Kranzler HR, Poling J, Gruen JR, Gelernter J. Cognitive flexibility is associated with KIBRA variant and modulated by recent tobacco use. Neuropsychopharmacology. 2009; 34(12):2508‐16.
26. Zhang H, Kranzler HR, Weiss RD, Luo X, Brady KT, Anton RF, Farrer LA, Gelernter J. Pro‐opiomelanocortin gene variation related to alcohol or drug dependence: evidence and replications across family‐ and population‐based studies. Biol Psychiatry. 2009; 66(2):128‐36.
27. Zhang H, Kranzler HR, Yang BZ, Luo X, Gelernter J. The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk. Mol Psychiatry. 2008; 13(5):531‐43.
28. Zhang H, Luo X, Kranzler HR, Lappalainen J, Yang BZ, Krupitsky E, Zvartau E, Gelernter J. Association between two mu‐opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence. Hum Mol Genet. 2006; 15(6):807‐19.
29. Zhang H, Ozbay F, Lappalainen J, Kranzler HR, van Dyck CH, Charney DS, Price LH, Southwick S, Yang BZ, Rasmussen A, Gelernter J. Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer’s disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence. Am J Med Genet B Neuropsychiatr Genet. 2006; 141B(4):387-93.
30. Zhang H, Liu X, Zhang C, Mundo E, Macciardi F, Grayson DR, Guidotti AR, Holden JJ. Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry. 2002; 7(9):1012-7.
Xiaoling Zhang, Ph.D.
Assistant Professor of Medicine and Biostatistics
Selected Publications
1. Malhotra, A.C. Mauer, X. Guo, J. Yao, X. Zhang, F. Wunderer, A.V. Smith, Q. Wong, S. Pechlivanis, S. Hwang, J. Wang, …, D.B. Bloch#, W. S. Post#,, and C.J. O’Donnell#,, for the CHARGE Extracoronary Calcium Working Group. HDAC9 is implicated in Atherosclerotic Aortic Calcification and Affects Vascular Smooth Muscle Cell Phenotype. Nature Genetics (accepted)
2. Guo C*, Zhao Z.,*, Chen D., He S., Sun N., Li Z., Liu J., Zhang D., Zhang J., Li J., Zhang M., Zhang X#, Fan Z#. Detection of clinically relevant genetic variants in Chinese patients with nanophthalmos by trio-based whole-genome sequencing study. (#Co-corresponding authors). Investigative Ophthalmology & Visual Science (accepted)
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