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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.
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.
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. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: royer bertrand b. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L. Segarra NG, et al. Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26286438
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