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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: cisarova k. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Quinodoz M, Peter VG, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A, Sepahi N, Rodrigues R, Piran M, Mojarrad M, Pasdar A, Ghanbari Asad A, Sousa AB, Coutinho Santos L, Superti-Furga A, Rivolta C. Quinodoz M, et al. Among authors: cisarova k. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 Free PMC article.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. Nikopoulos K, et al. Among authors: cisarova k. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009. Am J Hum Genet. 2016. PMID: 27588451 Free PMC article.
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, Raynaud F, Zografos L, Schalenbourg A, Speiser D, Nicolas M, Vallat L, Klein R, Leyvraz S, Ciriello G, Riggi N, Moulin AP, Rivolta C. Royer-Bertrand B, et al. Among authors: cisarova k. Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745836 Free PMC article.
Genomic and transcriptomic landscape of conjunctival melanoma.
Cisarova K, Folcher M, El Zaoui I, Pescini-Gobert R, Peter VG, Royer-Bertrand B, Zografos L, Schalenbourg A, Nicolas M, Rimoldi D, Leyvraz S, Riggi N, Moulin AP, Rivolta C. Cisarova K, et al. PLoS Genet. 2020 Dec 31;16(12):e1009201. doi: 10.1371/journal.pgen.1009201. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33383577 Free PMC article.
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