Genome-wide association study and functional validation implicates JADE1 in tauopathy

by Andrews, S.J, Attems, J., Ayalon, G., Beach, T.G, Bhangale, T., Borukov, V.Y, Bowles, K.R, Cairns, N.J, Casella, A., Cherry, J.D, Cobos, I., Cohen, H.T, Corrada, M.M, Cortes, E.P, Crary, J.F, Dangoor, D.K, de Paiva Lopes, K., Dickson, D.W, Farrell, K., Fischer, P., Flanagan, M.E, Franklin, E.E, Frosch, M.P, Frost, B., Fulton-Howard, B., Gandy, S., Gearing, M., Glass, J., Goate, A., Gonzalez, E.M, Graham, R.R, Han, N., Haroutunian, V., Hefti, M.M, Hof, P.R, Humphrey, J., Hunkapiller, J., Hyman, B.T, Iida, M.A, Kapoor, M., Kawas, C.H, Keene, C.D, Kim, S.H, Kofler, J., Kovacs, G.G, Latimer, C.S, Lee, E.B, Lutz, M.I, Mao, Q., Marcora, E., McKee, A.C, McMillan, C.T, Mesulam, M.-M, Metcalf, J., Montine, T.J, Murray, M.E, Nelson, P.T, Novikova, G., Otero-Garcia, M., Perrin, R.J, Pham, T., Poon, W., Purohit, D.P, Raj, T., Renton, A.E, Richardson, T.E, Rissman, R.A, Salehi, B., Sano, M., Schneider, J.A, Shuldberg, S., Sissoko, C.T, Stein, T.D, Tang, W., Teich, A.F, Trojanowski, J.Q, Troncoso, J.C, Udine, E., Vialle, R.A, Vonsattel, J.-P, Walker, J.M, Walsh, H., Weintraub, S., White III, C.L, Whitney, K., Wolk, D.A, Woltjer, R.L, Wong, G., Yu, L.
Published 2022

A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia

by Fu, R., Hoh, B.-P, Mokhtar, S.S, Phipps, M.E, Xu, S.
Published 2018

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

by Bye, C.R, Cheng, F.-F, Garton, F.C, Giacomotto, J., Gusev, A., Henders, A.K, Henderson, R.D, Kabashi, E., Kiernan, M.C, Mathers, S., McCombe, P.A, McRae, A.F, Nabais, M.F, Needham, M., Ngo, S.T, Ophoff, R., Qi, T., Restuadi, R., Schultz, D., Steyn, F.J, Thompson, M.J, Turner, B.J, van den Berg, L.H, van Rheenen, W., Veldink, J.H, Wallace, L., Wray, N.R, Wu, Y., Zaitlen, N., Ziser, L.
Published 2022

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

by Lionel, A.C, Marshall, C.R, Mokhtar, S.S, Peng, H.B, Phipps, M.E, Scherer, S.W, Thiruvahindrapuram, B.
Published 2014

Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease

by Benson, M.D, Bick, A.G, Bouchard, C., Chen, Z.-Z, Correa, A., Cruz, D.E, Deng, S., Durda, P., Farrell, L., Gao, Y., Gerszten, R.E, Guo, X., Hall, M.E, Ida Chen, Y.-D, Jain, D., Johnson, W.C, Katz, D.H, Liu, Y., Manichaikul, A.W, Natarajan, P., National Heart, Lung, and Blood Institute TOPMed (Trans-Omics for Precision Medicine) Consortium, Ngo, D., Pampana, A., Rich, S.S, Robbins, J.M, Rotter, J.I, Sarzynski, M.A, Schmaier, A.A, Shen, D., Sinha, S., Tahir, U.A, Taylor, K.D, Tracy, R.P, Wang, T.J, Wilson, J.G, Yao, J., Yu, Z.
Published 2022

Characterization of LncRNA expression profile and identification of functional LncRNAs associated with unstable angina

by Gu, X., Hou, J., Liu, S., Weng, R., Zhong, Z.
Published 2021

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates

by Harley, J.B, Hawley, M., Jarvik, G.P, Karlson, E.W, Koch, C., Lebo, M.S, Leppig, K.A, Mahanta, L.M, Myers, M.F, Oza, A., Prows, C.A, Rehm, H.L, Vijay Kumar, P.K, Weiss, S.T, Williams, M.S, Yu, W., Zouk, H.
Published 2022

Genetic analysis of over half a million people characterises C-reactive protein loci

by Alizadeh, B.Z, Bodinier, B., Chadeau-Hyam, M., Chasman, D.I, Dehghan, A., Elliott, P., Evangelou, E., Jarvelin, M.-R, Karhunen, V., Koskeridis, F., Ligthart, S., Pazoki, R., Said, S., Sattar, N., Tzoulaki, I., Võsa, U., Welsh, P.
Published 2022

Optimizing network propagation for multi-omics data integration

by Beyer, A., Charmpi, K., Chokkalingam, M., Johnen, R.
Published 2021

Oncogenic drivers in 11q13 associated with prognosis and response to therapy in advanced oropharyngeal carcinomas

by Barros-Filho, M.C, Carvalho, A.L, Chulam, T., Drigo, S.A, Hatakeyama, M., Kowalski, L.P, Marchi, F.A, Nicolau, U.R, Pinto, C.A.L, Reis-Rosa, L.A, Rogatto, S.R, Scapulatempo-Neto, C.
Published 2018

Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population

by Cheng, Z., Deng, Y., Fang, S., Li, J., Li, Z., Liu, J., Luo, G., Luo, L., Mo, B., Shu, Y., Wang, Y., Wang, Z., Wei, J., Xiong, W., Yang, H., Yang, J., Yu, B., Zhang, X., Zhu, J.
Published 2021

Sensitive period-regulating genetic pathways and exposure to adversity shape risk for depression

by Crawford, K.M, Davis, K.A, de Leeuw, C., Dunn, E.C, Hensch, T.K, Lussier, A.A, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ramírez-Tapia, J.C, Smoller, J.W, Takesian, A.E, Wang, M.-J, Zhu, Y.
Published 2022

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays

by Khoruddin, N.A, Mohd Yusof, F.Z, Noorizhab, M.N.F, Salleh, M.Z, Teh, L.K
Published 2021

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

by Duan, J., Li, S., Pi, X., Tao, J., Wang, H.
Published 2021

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing

by Hu, T., Liu, S., Wang, H., Xiang, Q., Xie, H., Xu, B., Yang, M.
Published 2021

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

by Cao, H., Dong, H., Ji, X., Luan, S., Wang, Z.
Published 2021

Effects of Wood Smoke Constituents on Mucin Gene Expression in Mice and Human Airway Epithelial Cells and on Nasal Epithelia of Subjects with a Susceptibility Gene Variant in Tp53

by Chu, H.W, Fort, S., McDonald, J., Mebratu, Y., Petersen, H., Tassew, D., Tesfaigzi, Y.
Published 2022

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis

by Abdel-Wahab, O., Angelot-Delettre, F., Biichle, S., Booth, C.A.G, Buonamici, S., Cabal-Hierro, L., Chung, S.S, Garnache-Ottou, F., Ghandi, M., Griffin, G.K, Hammerman, P.S, Jardin, F., Kenyon, C.M, Kim, S.S, Koeffler, H.P, Konopleva, M., Lane, A.A, Li, J., Li, Y.Y, Louissaint, A., Jr, Lovitch, S.B, Madan, V., Morgan, E.A, Pemmaraju, N., Piccaluga, P.P, Seiler, M., Taylor, J., Togami, K., Weinstock, D.M, Yang, H.
Published 2022

Computational analysis of fused co-expression networks for the identification of candidate cancer gene biomarkers

by Ceddia, G., Masseroli, M., Pidò, S.
Published 2021

Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease

by Abolnezhadian, F., Ghadiri, A.A, Ghandil, P., Heydari, A., Saberi, A., Sadeghi-Shabestari, M., Shamsizadeh, A.
Published 2021