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Page 1
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand.
Mikhailova AG, Mikhailova AA, Ushakova K, Tretiakov EO, Iliushchenko D, Shamansky V, Lobanova V, Kozenkov I, Efimenko B, Yurchenko AA, Kozenkova E, Zdobnov EM, Makeev V, Yurov V, Tanaka M, Gostimskaya I, Fleischmann Z, Annis S, Franco M, Wasko K, Denisov S, Kunz WS, Knorre D, Mazunin I, Nikolaev S, Fellay J, Reymond A, Khrapko K, Gunbin K, Popadin K. Mikhailova AG, et al. Among authors: reymond a. Nucleic Acids Res. 2022 Oct 14;50(18):10264-10277. doi: 10.1093/nar/gkac779. Nucleic Acids Res. 2022. PMID: 36130228 Free PMC article.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A. Loviglio MN, et al. Among authors: reymond a. Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965845 Free PMC article.
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Delaneau O, Zazhytska M, Borel C, Giannuzzi G, Rey G, Howald C, Kumar S, Ongen H, Popadin K, Marbach D, Ambrosini G, Bielser D, Hacker D, Romano L, Ribaux P, Wiederkehr M, Falconnet E, Bucher P, Bergmann S, Antonarakis SE, Reymond A, Dermitzakis ET. Delaneau O, et al. Among authors: reymond a. Science. 2019 May 3;364(6439):eaat8266. doi: 10.1126/science.aat8266. Science. 2019. PMID: 31048460
GENCODE reference annotation for the human and mouse genomes.
Frankish A, Diekhans M, Ferreira AM, Johnson R, Jungreis I, Loveland J, Mudge JM, Sisu C, Wright J, Armstrong J, Barnes I, Berry A, Bignell A, Carbonell Sala S, Chrast J, Cunningham F, Di Domenico T, Donaldson S, Fiddes IT, García Girón C, Gonzalez JM, Grego T, Hardy M, Hourlier T, Hunt T, Izuogu OG, Lagarde J, Martin FJ, Martínez L, Mohanan S, Muir P, Navarro FCP, Parker A, Pei B, Pozo F, Ruffier M, Schmitt BM, Stapleton E, Suner MM, Sycheva I, Uszczynska-Ratajczak B, Xu J, Yates A, Zerbino D, Zhang Y, Aken B, Choudhary JS, Gerstein M, Guigó R, Hubbard TJP, Kellis M, Paten B, Reymond A, Tress ML, Flicek P. Frankish A, et al. Among authors: reymond a. Nucleic Acids Res. 2019 Jan 8;47(D1):D766-D773. doi: 10.1093/nar/gky955. Nucleic Acids Res. 2019. PMID: 30357393 Free PMC article.
Nineteen additional unpredicted transcripts from human chromosome 21.
Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE. Reymond A, et al. Genomics. 2002 Jun;79(6):824-32. doi: 10.1006/geno.2002.6781. Genomics. 2002. PMID: 12036297
232 results