Royer-Bertrand B - Search Results

1

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Royer-Bertrand B, Cisarova K, Niel-Butschi F, Mittaz-Crettol L, Fodstad H, Superti-Furga A. Royer-Bertrand B, et al. Genes (Basel). 2021 Sep 16;12(9):1427. doi: 10.3390/genes12091427. Genes (Basel). 2021. PMID: 34573409 Free PMC article.

2

[Next generation sequencing : a diagnostic tool for inherited immune defects].

Droz-Georget S, Riccio O, Royer-Bertrand B, Superti-Furga A, Candotti F. Droz-Georget S, et al. Rev Med Suisse. 2017 Apr 5;13(557):763-766. Rev Med Suisse. 2017. PMID: 28722367 French.

3

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Quinodoz M, Royer-Bertrand B, Cisarova K, Di Gioia SA, Superti-Furga A, Rivolta C. Quinodoz M, et al. Am J Hum Genet. 2017 Oct 5;101(4):623-629. doi: 10.1016/j.ajhg.2017.09.001. Am J Hum Genet. 2017. PMID: 28985496 Free PMC article.

4

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: royer bertrand b. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 Free PMC article.

5

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

Royer-Bertrand B, Cisarova K, Niel Bütschi F, Foletti G, Guinchat V, Tran C, Superti-Furga A, Good JM. Royer-Bertrand B, et al. Am J Med Genet A. 2021 Aug;185(8):2602-2606. doi: 10.1002/ajmg.a.62343. Epub 2021 May 21. Am J Med Genet A. 2021. PMID: 34018673 Review. No abstract available.

6

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

Quinodoz M, Peter VG, Cisarova K, Royer-Bertrand B, Stenson PD, Cooper DN, Unger S, Superti-Furga A, Rivolta C. Quinodoz M, et al. Among authors: royer bertrand b. Am J Hum Genet. 2022 Mar 3;109(3):457-470. doi: 10.1016/j.ajhg.2022.01.006. Epub 2022 Feb 3. Am J Hum Genet. 2022. PMID: 35120630 Free PMC article.

7

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Thompson E, Abdalla E, Superti-Furga A, McAlister W, Kratz L, Unger S, Royer-Bertrand B, Campos-Xavier B, Mittaz-Crettol L, Amin AK, DeSanto C, Wilson DB, Douglas G, Kozel B, Shinawi M. Thompson E, et al. Bone. 2019 Mar;120:354-363. doi: 10.1016/j.bone.2018.11.006. Epub 2018 Nov 15. Bone. 2019. PMID: 30448303

8

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C. Royer-Bertrand B, et al. Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun. Ann Clin Transl Neurol. 2019. PMID: 31211171 Free PMC article.

9

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. 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.

10

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Bastos F, Quinodoz M, Addor MC, Royer-Bertrand B, Fodstad H, Rivolta C, Poloni C, Superti-Furga A, Roulet-Perez E, Lebon S. Bastos F, et al. Among authors: royer bertrand b. BMC Neurol. 2020 Jan 13;20(1):17. doi: 10.1186/s12883-019-1586-x. BMC Neurol. 2020. PMID: 31931739 Free PMC article. Review.

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