Representative Papers:

PTSD
[1] A. Hwang, M. Skarica, S. Xu, J. Coudriet, C. Y. Lee, L. Lin, R. Terwilliger, A.-N. Leverington, J. Wang, T. Nguyen, H. Li, M. Wu, Y. Dai, Z. Duan, S. Srinivasan, X. Zhang, Y. Lin, D. Cruz, P. J. M. Deans, B. R. Huber, D. Levey, J. R. Glausier, D. A. Lewis, J. Gelernter, P. E. Holtzheimer, M. J. Friedman, M. Gerstein, N. Sestan, K. Brennand, K. Xu, H. Zhao, J. Krystal, K. Young, D. Williamson, A. Che, J. Zhang, M. Girgenti (2025) Single cell transcriptomic and chromatin dynamics of the human PTSD brain. Nature, 643: 744-754.

[2] Wang J, Liu Y, Li H, Nguyen TP, Soto-Vargas JL, Wilson R, Wang W, Lam TT, Zhang C, Lin C; Traumatic Stress Brain Research Group; Lewis DA, Glausier J, Holtzheimer PE, Friedman MJ, Williams KR, Picciotto MR, Nairn AC, Krystal JH, Duman RS, Young KA, Zhao H, Girgenti MJ (2025) A multi-omic approach implicates novel protein dysregulation in post-traumatic stress disorder. Genome Medicine, 17: 43.

[3] Nievergelt C.M., Maihofer A.X., Atkinson E.G., Chen C.-Y., Choi K.W., Coleman J.R.I., Daskalakis N.P., Duncan L.E., Polimanti R., Aaronson C., Amstadter A.B., Andersen S.B., Andreassen O.A., Arbisi P.A., Ashley-Koch A.E., Austin S.B., Avdibegoviç E., Babić D., Bacanu S.-A., Baker D.G., Batzler A., Beckham J.C., Belangero S., Benjet C., Bergner C., Bierer L.M., Biernacka J.M., Bierut L.J., Bisson J.I., Boks M.P., Bolger E.A., Brandolino A., Breen G., Bressan R.A., Bryant R.A., Bustamante A.C., Bybjerg-Grauholm J., Bækvad-Hansen M., Børglum A.D., Børte S., Cahn L., Calabrese J.R., Caldas-de-Almeida J.M., Chatzinakos C., Cheema S., Clouston S.A.P., Colodro-Conde L., Coombes B.J., Cruz-Fuentes C.S., Dale A.M., Dalvie S., Davis L.K., Deckert J., Delahanty D.L., Dennis M.F., Desarnaud F., DiPietro C.P., Disner S.G., Docherty A.R., Domschke K., Dyb G., Džubur Kulenović A., Edenberg H.J., Evans A., Fabbri C., Fani N., Farrer L.A., Feder A., Feeny N.C., Flory J.D., Forbes D., Franz C.E., Galea S., Garrett M.E., Gelaye B., Gelernter J., Geuze E., Gillespie C.F., Goleva S.B., Gordon S.D., Goçi A., Grasser L.R., Guindalini C., Haas M., Hagenaars S., Hauser M.A., Heath A.C., Hemmings S.M.J., Hesselbrock V., Hickie I.B., Hogan K., Hougaard D.M., Huang H., Huckins L.M., Hveem K., Jakovljević M., Javanbakht A., Jenkins G.D., Johnson J., Jones I., Jovanovic T., Karstoft K.-I., Kaufman M.L., Kennedy J.L., Kessler R.C., Khan A., Kimbrel N.A., King A.P., Koen N., Kotov R., Kranzler H.R., Krebs K., Kremen W.S., Kuan P.-F., Lawford B.R., Lebois L.A.M., Lehto K., Levey D.F., Lewis C., Liberzon I., Linnstaedt S.D., Logue M.W., Lori A., Lu Y., Luft B.J., Lupton M.K., Luykx J.J., Makotkine I., Maples-Keller J.L., Marchese S., Marmar C., Martin N.G., Martínez-Levy G.A., McAloney K., McFarlane A., McLaughlin K.A., McLean S.A., Medland S.E., Mehta D., Meyers J., Michopoulos V., Mikita E.A., Milani L., Milberg W., Miller M.W., Morey R.A., Morris C.P., Mors O., Mortensen P.B., Mufford M.S., Nelson E.C., Nordentoft M., Norman S.B., Nugent N.R., O’Donnell M., Orcutt H.K., Pan P.M., Panizzon M.S., Pathak G.A., Peters E.S., Peterson A.L., Peverill M., Pietrzak R.H., Polusny M.A., Porjesz B., Powers A., Qin X.-J., Ratanatharathorn A., Risbrough V.B., Roberts A.L., Rothbaum A.O., Rothbaum B.O., Roy-Byrne P., Ruggiero K.J., Rung A., Runz H., Rutten B.P.F., Saenz de Viteri S., Salum G.A., Sampson L., Sanchez S.E., Santoro M., Seah C., Seedat S., Seng J.S., Shabalin A., Sheerin C.M., Silove D., Smith A.K., Smoller J.W., Sponheim S.R., Stein D.J., Stensland S., Stevens J.S., Sumner J.A., Teicher M.H., Thompson W.K., Tiwari A.K., Trapido E., Uddin M., Ursano R.J., Valdimarsdóttir U., Van Hooff M., Vermetten E., Vinkers C.H., Voisey J., Wang Y., Wang Z., Waszczuk M., Weber H., Wendt F.R., Werge T., Zhao H., Zoellner L.A., Zwart J.-A., deRoon-Cassini T., van Rooij S.J.H., van den Heuvel L.L., AURORA Study, Estonian Biobank Research Team, FinnGen Investigators, HUNT All-In Psychiatry, Stein M.B., Ressler K.J., Koenen K.C. (2024) Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. Nature Genetics, 56: 792-808.

[4] M. B. Stein, D. F. Levey, Z. Cheng, F. R. Wendt, K. Harrington, K. Cho, R. Quaden, K. Radhakrishnan, G. A. Pathak, M. J. Girgenti, Y.-L. A. Ho, D. Posner, PTSD Working Group of the Psychiatric Genomics Consortium (PGC), VA Million Veteran Program, VA Cooperative Studies Program, M. Aslan, R. S. Duman, H. Zhao, R. Polimanti, J. Concato, J. Gelernter (2021). Genomic characterization of posttraumatic stress disorder and its symptom subdomains in the Million Veteran Program. Nature Genetics, 53: 174-184.

[5] M. J. Girgenti, J. Wang, D. Ji, D. Cruz, Traumatic Stress Brain Research Study Group, the Million Veteran Program, M. B. Stein, J. Gelernter, K. A. Young, B. R. Huber, D. E. Williamson, M. J. Friedman, J. H. Krystal, H. Zhao, R. S. Duman (2021) Transcriptomic organization of the human brain in posttraumatic stress disorder. Nature Neuroscience, 24: 24-33.

[6] J. Gelernter, N. Sun, R. Polimanti, R. Pietrzak, J. Bryois, Q. Lu, Y Hu, B. Li, K. Radhakrishnan, M. Aslan, K.H. Cheung, Y. Li, N. Rajeevan, F. Sayward, K. Harrington, Q. Chen, K. Cho, S. Pyarajan, P.F. Sullivan, R. Quaden, Y. Shi, H. Hunter-Zinck, J. M. Gaziano, J. Concato, H. Zhao, M.B. Stein, on behalf of the Department of Veterans Affairs Cooperative Studies Program (#575B) and Million Veteran Program (2019) GWAS of PTSD re-experiencing symptoms in >165,000 US veterans yields new biological knowledge. Nature Neuroscience, 22: 1394-1401.

IPF
[1]M. Chen, Y. Zhang, T. S. Adams, D. Ji, W. Jiang, L. V. Wain, M. H. Cho, N. Kaminski, H. Zhao (2023) Integrative analyses for the identification of idiopathic pulmonary fibrosis associated genes and shared loci with other diseases. Thorax, 78: 792-798.

[2] J. D Herazo-Maya, J. Sun, P. L. Molyneaux, Q Li , J. Villalba-Nunez, A. Tzouvelekis, H. Lynn, B. M. Juan-Guardela, C. Risquez, J. C. Osorio, X. Yan, G. Michel, N. Aurelien, K. O. Lindell, M. J. Klesen, M. F. Moffatt, W. O. Cookson, Y. Zhang, J. G. Garcia, I. Noth, A. Prasse, Z. Bar-Joseph, K. F. Gibson, H. Zhao, E. L. Herzog, I. O. Rosas, T. M. Maher, N. Kaminski (2017) Validation of a 52-gene risk profile for outcome prediction in patients with idiopathic pulmonary fibrosis: an international, multicentre, cohort study. Lancet Respiratory Medicine, 5: 857–868.

Neuroscience
[1]Y. Zhu, A. M. M. Sousa, T. Gao, M. Skarica, M. Li, G. Santpere, P. Esteller-Cucala, D. Juan, L. Ferrández-Peral, F. O. Gulden, M. Yang, D. J. Miller, T. Marques-Bonet, Y. Imamura Kawasawa, H. Zhao, N. Sestan (2018) Spatiotemporal transcriptomic divergence across human and macaque brain development. Science 362(6420): eatt8077.

Imaging
[1] J. Shen, Y. Zhang, Z. Zhu, Y. Cheng, B. Cai, Y. Zhao, H. Zhao (2024) Joint modeling of human cortical structure: Genetic correlation network and composite-trait genetic correlation. NeuroImage, 297: 120739.

Cardiovascular diseases
[1]Y. Ye, X. Chen, J. Han, W. Jiang, P. Natarajan, H. Zhao (2021) Interactions between enhanced polygenic risk scores and lifestyle for cardiovascular disease, diabetes mellitus and lipid levels. Circulation: Genomic and Precision Medicine, 14: e003128.

Substance dependence
[1] Zhou H, Kember RL, Deak JD, Xu H, Toikumo S, Yuan K, Lind PA, Farajzadeh L, Wang L, Hatoum AS, Johnson J, Lee H, Mallard TT, Xu J, Johnston KJA, Johnson EC, Nielsen TT, Galimberti M, Dao C, Levey DF, Overstreet C, Byrne EM, Gillespie NA, Gordon S, Hickie IB, Whitfield JB, Xu K, Zhao H, Huckins LM, Davis LK, Sanchez-Roige S, Madden PAF, Heath AC, Medland SE, Martin NG, Ge T, Smoller JW, Hougaard DM, Børglum AD, Demontis D, Krystal JH, Gaziano JM, Edenberg HJ, Agrawal A; Million Veteran Program; Justice AC, Stein MB, Kranzler HR, Gelernter J (2023) Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. Nature Medicine, 24: 3184-3192.

[2] K. Xu, B. Li, K. McGinnis, R. V. Smith, C. Dao, N. Sun, R. L. Kember, H. Zhou, W. C. Becker, J. Gelernter, H. R. Kranzler, H. Zhao, A. C. Justice (2020) Genome-wide association study of a longitudinal phenotype of smoking and meta-analysis of smoking status in up to 842,000 individuals. Nature Communications, 11: 5302.

[3] H. Kranzler, H. Zhou, R. Kember, R. V. Smith, A. Justice, S. Damrauder, P. Tsao, D. Klarin, D. Rader, N. Katsanis, Z. Cheng, J. Tate, W. Becker, J. Concato, K. Xu, R. Polimanti, H. Zhao, J. Gelernter (2019) Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. Nature Communications, 10: 1499.

Cancer
[1] Jia G, Chen Z, Ping J, Cai Q, Tao R, Li C, Bauer JA, Xie Y, Ambs S, Barnard ME, Chen Y, Choi JY, Gao YT, Garcia-Closas M, Gu J, Hu JJ, Iwasaki M, John EM, Kweon SS, Li CI, Matsuda K, Matsuo K, Nathanson KL, Nemesure B, Olopade OI, Pal T, Park SK, Park B, Press MF, Sanderson M, Sandler DP, Shen CY, Troester MA, Yao S, Zheng Y, Ahearn T, Brewster AM, Falusi A, Hennis AJM, Ito H, Kubo M, Lee ES, Makumbi T, Ndom P, Noh DY, O'Brien KM, Ojengbede O, Olshan AF, Park MH, Reid S, Yamaji T, Zirpoli G, Butler EN, Huang M, Low SK, Obafunwa J, Weinberg CR, Zhang H, Zhao H, Cote ML, Ambrosone CB, Huo D, Li B, Kang D, Palmer JR, Shu XO, Haiman CA, Guo X, Long J, Zheng W (2025) Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions. Nature Genetics, 57: 80-87.

[2] Desai SS, Salahuddin S, Yusuf R, Ranjan K, Gu J, Osmani L, Lin YE, Mehta S, Talmon R, Kang I, Kluger Y, Zhao H, Schalper KA, Emu B (2025) The tumor microenvironment of non-small cell lung cancer impairs immune cell function among people with HIV. Journal of Clinical Investigation, 135: e177310.

[3] J. Hu, Y. Ye, G. Zhou, H. Zhao (2024) Using clinical and genetic risk factors for risk prediction of 8 cancers in the UK Biobank. JNCI Cancer Spectr. 8(2): pkae008.

Congenital diseases
[1] Sierant MC, Jin SC, Bilguvar K, Morton SU, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Sedore SC, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter GA Jr, Newburger JW, Seidman JG, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Chung WK, Gelb BD, Seidman CE, Brueckner M, Lifton RP (2025) Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences, 122: e2420343122.

[2] Dong W, Jin SC, Sierant MC, Lu Z, Li B, Lu Q, Morton SU, Zhang J, López-Giráldez F, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, Cnota JF, Wagner M, Srivastava D, Bernstein D, Porter GA Jr, Newburger J, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Seidman J, Chung WK, Gelb BD, Seidman CE, Lifton RP, Brueckner M (2025) Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences, 122: e2419992122.

[3] S. C. Jin, J. Homsy, S. Zaidi, Q. Lu, S. Morton, S. R. DePalma, X. Zeng, H. Qi, W. Chang, W.-C. Hung, M. C. Sierant, S. Haider, J. Zhang, J. Knight, R. D. Bjornson, C. Castaldi, I. R. Tikhonoa, K. Bilguvar, S. M. Mane, S. J. Sanders, S. Mital, M. Russell, W. Gaynor, J. Deanfield, A. Giardini, G. A. Porter Jr., D. Srivastava, C. W. Lo, Y. Shen, W. S. Watkins, M. Yandell, H. J. Yost, M. Tristani-Firouzi, J. W. Newburger, A. E. Roberts, R. Kim, H. Zhao, J. R. Kaltman, E. Goldmuntz, W. K. Chung, J. G. Seidman, B. D. Gelb, C. E. Seidman2, R. P. Lifton, M. Brueckner (2017) Contribution of rare inherited and de novo variants among 2,871 congenital heart disease probands. Nature Genetics, 49: 1593-1601.

[4] S. Zaidi, M. Choi, H. Wakimoto, L. Ma, J. Jiang, J. D. Overton, A. Romano-Adesman, R. D. Bjornson, R. E. Breitbart, K. K. Brown, N. J. Carriero, Y. H. Cheung, J. Deanfield, S. DePalma, K. A. Fakhro, J. Glessner, H. Hakonarson, M. J. Italia, J. R. Kaltman, J. Kaski, R. Kim, J. K. Kline, T. Lee, J. Leipzig, A. Lopez, S. M. Mane, L. E. Mitchell, J. W. Newburger, M. Parfenov, I. Pe'er, G. Porter, A. E. Roberts, R. Sachidanandam, S. J. Sanders, H. S. Seiden, M. W. State, S. Subramanian, I. R. Tikhonova, W. Wang, D. Warburton, P. S. White, I. A. Williams, H. Zhao, J. G. Seidman, M. Brueckner, W. K. Chung, B. D. Gelb, E. Goldmuntz, C. E. Seidman, R. P. Lifton (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature, 498: 220-223.

COVID 19
[1] Verma A, Tsao NL, Thomann LO, Ho YL, Iyengar SK, Luoh SW, Carr R, Crawford DC, Efird JT, Huffman JE, Hung A, Ivey KL, Levin MG, Lynch J, Natarajan P, Pyarajan S, Bick AG, Costa L, Genovese G, Hauger R, Madduri R, Pathak GA, Polimanti R, Voight B, Vujkovic M, Zekavat SM, Zhao H, Ritchie MD; VA Million Veteran Program COVID-19 Science Initiative, Chang KM, Cho K, Casas JP, Tsao PS, Gaziano JM, O'Donnell C, Damrauer SM, Liao KP. A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. PLOS Genetics, 18: 1010113.

[2] A. Unterman, T. S. Sumida, N. Nouri, X. Yan, A. Y. Zhao, V. Gasque, J. C. Schupp, H. Asashima, Y. Liu, C. Cosme Jr., W. Deng, M. Chen, M. S. B. Raredon, K. B. Hoehn, G. Wang, Z. Wang, G. DeIuliis, N. G. Ravindra, N. Li, C. Castaldi, P. Wong, J. Fournie, S. Bermejo, L. Sharma, A. Casanovas-Massana, C. B. F. Vogels, A. L. Wyllie, N. D. Grubaugh, A. Melillo, H. Meng, Y. Stein, M. Minasyan, S. Mohanty, W. E. Ruff, I. Cohen, K. Raddassi, The Yale IMPACT Research Team, L. E. Niklason, A. I. Ko, R. R. Montgomery, S. F. Farhadian, A. Iwasaki, A. C. Shaw, D. van Dijk, H. Zhao, S. H. Kleinstein, D. A. Hafler, N. Kaminski, C. S. Dela Cruz (2022) Single-cell multi-omics reveals dyssynchrony of the innate and adaptive immune system in progressive COVID-19. Nature Communications, 13: 440.

[3] S. M. Zekavat, S.-H. Lin, A. G. Bick, K. Paruchuri, M. M. Uddin, X. Liu, Y. Kamatani, J. P. Pirruccello, A. Pampana, P.-R. Loh, P. Kohli, S. A. McCarroll, B. Neale, E. A. Engels, D. W. Brown, J. Smoller, R. Green, E. Karlson, M. Lebo, P. Ellinor, S. T. Weiss, The Biobank Japan Project, C. Terao, H. Zhao, B. L. Ebert, COVID-19 Host Genetics Initiative, M. J. Machiela, G. Genovese, P. Natarajan (2021) Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine, 27: 1012-1024.

[4] R. M. Samuel, H. Majd, M. N. Richter, Z. Ghazizadeh, S. M. Zekavat, A. Navickas, J. T. Ramirez, H. Asgharian, C. R. Simoneau, L. R. Bonser, K. D. Koh, M. Garcia-Knight, M. Tassetto, S. Sunshine, S. Farahvashi, A. Kalantari, W. Liu, R. Andino, H. Zhao, P. Natarajan, D. J. Erle, M. Ott, H. Goodarzi, F. Fattahi F (2020) Androgen regulates SARS-CoV-2 receptor levels and is associated with severe COVID-19 symptoms in men. Cell Stem Cell, 27: 876-889.

Immunology
[1] Yoshida TM, Nguyen M, Zhang L, Lu BY, Zhu B, Murray KN, Mineur YS, Zhang C, Xu D, Lin E, Luchsinger J, Bhatta S, Waizman DA, Coden ME, Ma Y, Israni-Winger K, Russo A, Wang H, Song W, Al Souz J, Zhao H, Craft JE, Picciotto MR, Grutzendler J, Distasio M, Palm NW, Hafler DA, Wang A (2025) The subfornical organ is a nucleus for gut-derived T cells that regulate behaviour. Nature, 643: 499-508.

[2] Cui C, Wang J, Fagerberg E, Chen PM, Connolly KA, Damo M, Cheung JF, Mao T, Askari AS, Chen S, Fitzgerald B, Foster GG, Eisenbarth SC, Zhao H, Craft J, Joshi NS (2021) Neoantigen driven B cell and CD4 T follicular helper cell collaboration promotes anti-tumor CD8 T cell responses. Cell, 184: 6101-6118.e13.

Genetics
[1] T. H. H. Coorens, A. Guillaumet-Adkins, R. Kovner, R. L. Linn, V. H. J. Roberts, A. Sule, P. M. Van Hoose, dGTEx Consortium (2025) The human and non-human primate developmental GTEx projects. Nature, 637: 557-564.

[2] Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M (2024) Quantifying constraint in the human mitochondrial genome. Nature, 635: 390-397.

[3] Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD; NHLBI Trans-Omics for Precision Medicine Consortium, Auer PL, Kooperberg C, Laurie CC, Blackwell TW, Smith AV, Zhao H, Lange E, Lange L, Rich SS, Rotter JI, Wilson JG, Scheet P, Kitzman JO, Lander ES, Engreitz JM, Ebert BL, Reiner AP, Jaiswal S, Abecasis G, Sankaran VG, Kathiresan S, Natarajan P (2020) Inherited causes of clonal hematopoiesis of indeterminate potential in TOPMed whole genomes. Nature, 586: 763-768.