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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D; CNRMAJ collaborators; Boland A, Deleuze JF, Olaso R; ADES consortium; Alarcon F, Campion D, Nuel G, Nicolas G. Schramm C, et al. Among authors: alarcon f. Genome Med. 2022 Jun 28;14(1):69. doi: 10.1186/s13073-022-01070-6. Genome Med. 2022. PMID: 35761418 Free PMC article.
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D; CNRMAJ collaborators; Boland A, Deleuze JF, Olaso R; ADES consortium; Alarcon F, Campion D, Nuel G, Nicolas G. Schramm C, et al. Among authors: alarcon f. Genome Med. 2022 Aug 3;14(1):83. doi: 10.1186/s13073-022-01091-1. Genome Med. 2022. PMID: 35922859 Free PMC article. No abstract available.
Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.
Cisneros-Barroso E, Gorram F, Ribot-Sansó MA, Alarcon F, Nuel G, González-Moreno J, Rodríguez A, Hernandez-Rodriguez J, Amengual-Cladera E, Martínez-López I, Ripoll-Vera T, Losada-López I, Heine-Suñer D, Plante-Bordeneuve V. Cisneros-Barroso E, et al. Among authors: alarcon f. Orphanet J Rare Dis. 2023 Aug 31;18(1):255. doi: 10.1186/s13023-023-02865-5. Orphanet J Rare Dis. 2023. PMID: 37653545 Free PMC article.
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E. Hamzaoui N, et al. Among authors: alarcon f. Genet Med. 2020 Sep;22(9):1533-1541. doi: 10.1038/s41436-020-0828-z. Epub 2020 May 19. Genet Med. 2020. PMID: 32424176 Free article.
169 results