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Page 1
DNAJC13 mutations in Parkinson disease.
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Vilariño-Güell C, et al. Among authors: bernard v. Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218364 Free PMC article.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Among authors: bernard v. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.
Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.
Roche O, Deguiz ML, Tiana M, Galiana-Ribote C, Martinez-Alcazar D, Rey-Serra C, Ranz-Ribeiro B, Casitas R, Galera R, Fernández-Navarro I, Sánchez-Cuéllar S, Bernard V, Ancochea J, Wasserman WW, García-Rio F, Jimenez B, Del Peso L. Roche O, et al. Among authors: bernard v. Nucleic Acids Res. 2016 Nov 2;44(19):9315-9330. doi: 10.1093/nar/gkw811. Epub 2016 Sep 12. Nucleic Acids Res. 2016. PMID: 27625398 Free PMC article.
The clonal and mutational evolution spectrum of primary triple-negative breast cancers.
Shah SP, Roth A, Goya R, Oloumi A, Ha G, Zhao Y, Turashvili G, Ding J, Tse K, Haffari G, Bashashati A, Prentice LM, Khattra J, Burleigh A, Yap D, Bernard V, McPherson A, Shumansky K, Crisan A, Giuliany R, Heravi-Moussavi A, Rosner J, Lai D, Birol I, Varhol R, Tam A, Dhalla N, Zeng T, Ma K, Chan SK, Griffith M, Moradian A, Cheng SW, Morin GB, Watson P, Gelmon K, Chia S, Chin SF, Curtis C, Rueda OM, Pharoah PD, Damaraju S, Mackey J, Hoon K, Harkins T, Tadigotla V, Sigaroudinia M, Gascard P, Tlsty T, Costello JF, Meyer IM, Eaves CJ, Wasserman WW, Jones S, Huntsman D, Hirst M, Caldas C, Marra MA, Aparicio S. Shah SP, et al. Among authors: bernard v. Nature. 2012 Apr 4;486(7403):395-9. doi: 10.1038/nature10933. Nature. 2012. PMID: 22495314 Free PMC article.
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite.
Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, Mirabeau O, Cidre-Aranaz F, Tirode F, Zaidi S, Perot G, Jonker AH, Lucchesi C, Le Deley MC, Oberlin O, Marec-Bérard P, Véron AS, Reynaud S, Lapouble E, Boeva V, Rio Frio T, Alonso J, Bhatia S, Pierron G, Cancel-Tassin G, Cussenot O, Cox DG, Morton LM, Machiela MJ, Chanock SJ, Charnay P, Delattre O. Grünewald TG, et al. Among authors: bernard v. Nat Genet. 2015 Sep;47(9):1073-8. doi: 10.1038/ng.3363. Epub 2015 Jul 27. Nat Genet. 2015. PMID: 26214589 Free PMC article.
ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis.
Fiévet A, Bernard V, Tenreiro H, Dehainault C, Girard E, Deshaies V, Hupe P, Delattre O, Stern MH, Stoppa-Lyonnet D, Golmard L, Houdayer C. Fiévet A, et al. Among authors: bernard v. Eur J Hum Genet. 2019 May;27(5):792-800. doi: 10.1038/s41431-018-0317-x. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683922 Free PMC article.
Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations.
Eleveld TF, Oldridge DA, Bernard V, Koster J, Colmet Daage L, Diskin SJ, Schild L, Bentahar NB, Bellini A, Chicard M, Lapouble E, Combaret V, Legoix-Né P, Michon J, Pugh TJ, Hart LS, Rader J, Attiyeh EF, Wei JS, Zhang S, Naranjo A, Gastier-Foster JM, Hogarty MD, Asgharzadeh S, Smith MA, Guidry Auvil JM, Watkins TB, Zwijnenburg DA, Ebus ME, van Sluis P, Hakkert A, van Wezel E, van der Schoot CE, Westerhout EM, Schulte JH, Tytgat GA, Dolman ME, Janoueix-Lerosey I, Gerhard DS, Caron HN, Delattre O, Khan J, Versteeg R, Schleiermacher G, Molenaar JJ, Maris JM. Eleveld TF, et al. Among authors: bernard v. Nat Genet. 2015 Aug;47(8):864-71. doi: 10.1038/ng.3333. Epub 2015 Jun 29. Nat Genet. 2015. PMID: 26121087 Free PMC article.
Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma.
Chicard M, Colmet-Daage L, Clement N, Danzon A, Bohec M, Bernard V, Baulande S, Bellini A, Deveau P, Pierron G, Lapouble E, Janoueix-Lerosey I, Peuchmaur M, Corradini N, Defachelles AS, Valteau-Couanet D, Michon J, Combaret V, Delattre O, Schleiermacher G. Chicard M, et al. Among authors: bernard v. Clin Cancer Res. 2018 Feb 15;24(4):939-949. doi: 10.1158/1078-0432.CCR-17-1586. Epub 2017 Nov 30. Clin Cancer Res. 2018. PMID: 29191970
Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis.
Bellini A, Bernard V, Leroy Q, Rio Frio T, Pierron G, Combaret V, Lapouble E, Clement N, Rubie H, Thebaud E, Chastagner P, Defachelles AS, Bergeron C, Buchbinder N, Taque S, Auvrignon A, Valteau-Couanet D, Michon J, Janoueix-Lerosey I, Delattre O, Schleiermacher G. Bellini A, et al. Among authors: bernard v. Clin Cancer Res. 2015 Nov 1;21(21):4913-21. doi: 10.1158/1078-0432.CCR-15-0423. Epub 2015 Jun 9. Clin Cancer Res. 2015. PMID: 26059187
323 results