Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.

DNA methylation age is associated with an altered hemostatic profile in a multi-ethnic meta-analysis.

Ward-Caviness CK, Huffman JE, Evertt K, Germain M, van Dongen J, W Hill D, Jhun MA, Brody JA, Ghanbari M, Du L, Roetker NS, de Vries PS, Waldenberger M, Gieger C, Wolf P, Prokisch H, Koenig W, O'Donnell CJ, Levy D, Liu C, Truong V, Wells PS, Trégouët D-A, Tang W, Morrison AC, Boerwinkle E, Wiggins KL, McKnight B, Guo X, Psaty BM, Sotoodenia N, Boomsa DI, Willemsen G, Ligthart L, Deary IJ, Zhao W, Ware EB, Kardia SLR, van Meurs JBJ, Uitterlinden AG, Franco OH, Eriksson P, Franco-Cereceda A, Pankow JS, Johnson AD, Gagnon F, Morange P-E, de Geus EJC, Starr JM, Smith JA, Dehghan A, Björck HM, Smith NL, Peters A. DNA methylation age is associated with an altered hemostatic profile in a multi-ethnic meta-analysis. Blood. 2018 ;.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Z Uyguner O. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;.

Whole exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X. Whole exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;.

Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer.

Lei JT, Shao J, Zhang J, Iglesia M, Chan DW, Cao J, Anurag M, Singh P, He X, Kosaka Y, Matsunuma R, Crowder R, Hoog J, Phommaly C, Goncalves R, Ramalho S, Peres RMary Rodri, Punturi N, Schmidt C, Bartram A, Jou E, Devarakonda V, Holloway KR, W Lai V, Hampton O, Rogers A, Tobias E, Parikh PA, Davies SR, Li S, Ma CX, Suman VJ, Hunt KK, Watson MA, Hoadley KA, E Thompson A, Chen X, Kavuri SM, Creighton CJ, Maher CA, Perou CM, Haricharan S, Ellis MJ. Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer. Cell Rep. 2018 ;24(6):1434-1444.e7.