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Phenotype correlations with pathogenic DNA variants in the MUTYH gene.
Thet M, Plazzer JP, Capella G, Latchford A, Nadeau EA, Greenblatt MS, Macrae F. Thet M, et al. Among authors: nadeau ea. medRxiv [Preprint]. 2024 May 15:2024.05.15.24307143. doi: 10.1101/2024.05.15.24307143. medRxiv. 2024. PMID: 38798681 Free PMC article. Preprint.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: nadeau eaw. medRxiv [Preprint]. 2024 May 4:2024.05.03.24306761. doi: 10.1101/2024.05.03.24306761. medRxiv. 2024. PMID: 38746299 Free PMC article. Preprint.
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau E, Greenblatt MS, Harrison S, Tavtigian S, Radivojac P, Brenner SE, O'Donnell-Luria A. Stenton SL, et al. Among authors: nadeau e. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303807. doi: 10.1101/2024.03.05.24303807. medRxiv. 2024. PMID: 38496501 Free PMC article. Preprint.
Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation.
Mattman A, Nadeau E, Mezei MM, Cresswell M, Zhao S, Bosdet T, Sin DD, Guenette JA, Dupuis I, Allin E, Clarke DC. Mattman A, et al. Among authors: nadeau e. Orphanet J Rare Dis. 2022 Jan 10;17(1):12. doi: 10.1186/s13023-021-02164-x. Orphanet J Rare Dis. 2022. PMID: 35012599 Free PMC article. No abstract available.
59 results