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Page 1
Ensembl 2012.
Flicek P, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri AK, Keefe D, Keenan S, Kinsella R, Komorowska M, Koscielny G, Kulesha E, Larsson P, Longden I, McLaren W, Muffato M, Overduin B, Pignatelli M, Pritchard B, Riat HS, Ritchie GR, Ruffier M, Schuster M, Sobral D, Tang YA, Taylor K, Trevanion S, Vandrovcova J, White S, Wilson M, Wilder SP, Aken BL, Birney E, Cunningham F, Dunham I, Durbin R, Fernández-Suarez XM, Harrow J, Herrero J, Hubbard TJ, Parker A, Proctor G, Spudich G, Vogel J, Yates A, Zadissa A, Searle SM. Flicek P, et al. Among authors: vandrovcova j. Nucleic Acids Res. 2012 Jan;40(Database issue):D84-90. doi: 10.1093/nar/gkr991. Epub 2011 Nov 15. Nucleic Acids Res. 2012. PMID: 22086963 Free PMC article.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: vandrovcova j. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Somatic BRAF-V600E mutations in familial colorectal cancer.
Vandrovcova J, Lagerstedt-Robinsson K, Påhlman L, Lindblom A. Vandrovcova J, et al. Cancer Epidemiol Biomarkers Prev. 2006 Nov;15(11):2270-3. doi: 10.1158/1055-9965.EPI-06-0359. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 17119056
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A. Lagerstedt Robinson K, et al. Among authors: vandrovcova j. J Natl Cancer Inst. 2007 Feb 21;99(4):291-9. doi: 10.1093/jnci/djk051. J Natl Cancer Inst. 2007. PMID: 17312306
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
O'Connor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, Harder AVE, Vijfhuizen LS, Yip J, Giffin N, Silver N, Ahmed F, Hostettler IC, Davies B, Cader MZ, Simpson BS, Sullivan R, Efthymiou S, Adebimpe J, Quinn O, Campbell C, Cavalleri GL, Vikelis M, Kelderman T, Paemeleire K, Kilbride E, Grangeon L, Lagrata S, Danno D, Trembath R, Wood NW, Kockum I, Winsvold BS, Steinberg A, Sjöstrand C, Waldenlind E, Vandrovcova J, Houlden H, Matharu M, Belin AC. O'Connor E, et al. Among authors: vandrovcova j. Ann Neurol. 2021 Aug;90(2):193-202. doi: 10.1002/ana.26150. Epub 2021 Jul 14. Ann Neurol. 2021. PMID: 34184781
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium; Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Ferrari R, et al. Among authors: vandrovcova j. Neurobiol Aging. 2014 Jun;35(6):1514.e1-12. doi: 10.1016/j.neurobiolaging.2014.01.010. Epub 2014 Jan 13. Neurobiol Aging. 2014. PMID: 24503276 Free PMC article.
122 results