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Page 1
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Among authors: derdak s. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. Among authors: derdak s. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.
Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.
González-Rincón J, Gómez S, Martinez N, Troulé K, Perales-Patón J, Derdak S, Beltrán S, Fernández-Cuevas B, Pérez-Sanz N, Nova-Gurumeta S, Gut I, Al-Shahrour F, Piris MA, García-Marco JA, Sánchez-Beato M. González-Rincón J, et al. Among authors: derdak s. Sci Rep. 2019 Jan 30;9(1):975. doi: 10.1038/s41598-018-37389-7. Sci Rep. 2019. PMID: 30700761 Free PMC article.
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls.
Thun GA, Derdak S, Castro-Giner F, Apunte-Ramos K, Águeda L, Wjst M, Boland A, Deleuze JF, Kolsum U, Heiss-Neumann MS, Nowinski A, Gorecka D, Hohlfeld JM, Welte T, Brightling CE, Parr DG, Prasse A, Müller-Quernheim J, Greulich T, Stendardo M, Boschetto P, Barta I, Döme B, Gut M, Singh D, Ziegler-Heitbrock L, Gut IG. Thun GA, et al. Among authors: derdak s. Sci Rep. 2019 Dec 27;9(1):20158. doi: 10.1038/s41598-019-56618-1. Sci Rep. 2019. PMID: 31882973 Free PMC article.
Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
Franch-Expósito S, Esteban-Jurado C, Garre P, Quintanilla I, Duran-Sanchon S, Díaz-Gay M, Bonjoch L, Cuatrecasas M, Samper E, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Castells A; EPICOLON consortium; Vila-Casadesús M, Derdak S, Laurie S, Beltran S, Carvajal J, Bujanda L, Ruiz-Ponte C, Camps J, Gironella M, Lozano JJ, Balaguer F, Cubiella J, Caldés T, Castellví-Bel S. Franch-Expósito S, et al. Among authors: derdak s. J Genet Genomics. 2018 Jan 20;45(1):41-45. doi: 10.1016/j.jgg.2017.12.001. Epub 2017 Dec 20. J Genet Genomics. 2018. PMID: 29396139 No abstract available.
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier AS, Patch AM, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FC, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DT, Gut IG. Alioto TS, et al. Among authors: derdak s. Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001. Nat Commun. 2015. PMID: 26647970 Free PMC article.
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. García-García G, et al. Among authors: derdak s. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020. Mol Vis. 2020. PMID: 32214787 Free PMC article.
89 results