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Year Number of Results
2011 3
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Page 1
Ensembl variation resources.
Hunt SE, McLaren W, Gil L, Thormann A, Schuilenburg H, Sheppard D, Parton A, Armean IM, Trevanion SJ, Flicek P, Cunningham F. Hunt SE, et al. Database (Oxford). 2018 Jan 1;2018:bay119. doi: 10.1093/database/bay119. Database (Oxford). 2018. PMID: 30576484 Free PMC article.
Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia.
Hackinger S, Prins B, Mamakou V, Zengini E, Marouli E, Brčić L, Serafetinidis I, Lamnissou K, Kontaxakis V, Dedoussis G, Gonidakis F, Thanopoulou A, Tentolouris N, Tsezou A, Zeggini E. Hackinger S, et al. Transl Psychiatry. 2018 Nov 23;8(1):252. doi: 10.1038/s41398-018-0304-6. Transl Psychiatry. 2018. PMID: 30470734 Free PMC article.
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. Verheije R, et al. Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291340 Free PMC article.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.
Variant antigen repertoires in Trypanosoma congolense populations and experimental infections can be profiled from deep sequence data using universal protein motifs.
Silva Pereira S, Casas-Sánchez A, Haines LR, Ogugo M, Absolomon K, Sanders M, Kemp S, Acosta-Serrano Á, Noyes H, Berriman M, Jackson AP. Silva Pereira S, et al. Genome Res. 2018 Sep;28(9):1383-1394. doi: 10.1101/gr.234146.118. Epub 2018 Jul 13. Genome Res. 2018. PMID: 30006414 Free PMC article.
113 results