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Page 1
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.
Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI. Bonilla X, et al. Among authors: seplyarskiy vb. Nat Genet. 2016 Apr;48(4):398-406. doi: 10.1038/ng.3525. Epub 2016 Mar 7. Nat Genet. 2016. PMID: 26950094
Gene age predicts the strength of purifying selection acting on gene expression variation in humans.
Popadin KY, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, Zdobnov EM, Dermitzakis ET, Antonarakis SE. Popadin KY, et al. Among authors: seplyarskiy vb. Am J Hum Genet. 2014 Dec 4;95(6):660-74. doi: 10.1016/j.ajhg.2014.11.003. Am J Hum Genet. 2014. PMID: 25480033 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
Andrianova MA, Chetan GK, Sibin MK, Mckee T, Merkler D, Narasinga RK, Ribaux P, Blouin JL, Makrythanasis P, Seplyarskiy VB, Antonarakis SE, Nikolaev SI. Andrianova MA, et al. Among authors: seplyarskiy vb. J Pathol. 2017 Nov;243(3):331-341. doi: 10.1002/path.4957. Epub 2017 Sep 28. J Pathol. 2017. PMID: 28805995
The origin of human mutation in light of genomic data.
Seplyarskiy VB, Sunyaev S. Seplyarskiy VB, et al. Nat Rev Genet. 2021 Oct;22(10):672-686. doi: 10.1038/s41576-021-00376-2. Epub 2021 Jun 23. Nat Rev Genet. 2021. PMID: 34163020 Review.
22 results