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Page 1
DNA methylation patterns associated with konzo in Sub-Saharan Africa.
Kocher K, Bhattacharya S, Bramble MS, Okitundu-Luwa D, Ngoyi DM, Tshala-Katumbay D, Vilain E. Kocher K, et al. Among authors: vilain e. Clin Epigenetics. 2022 Dec 19;14(1):179. doi: 10.1186/s13148-022-01372-x. Clin Epigenetics. 2022. PMID: 36536449 Free PMC article.
Glutathione peroxidase 3 is a potential biomarker for konzo.
Bramble MS, Fourcassié V, Vashist N, Roux-Dalvai F, Zhou Y, Bumoko G, Kasendue ML, Spencer D, Musasa Hanshi-Hatuhu H, Kambale-Mastaki V, Manalo RVM, Mohammed A, McIlwain DR, Cunningham G, Summar M, Boivin MJ, Caldovic L, Vilain E, Mumba-Ngoyi D, Tshala-Katumbay D, Droit A. Bramble MS, et al. Among authors: vilain e. Nat Commun. 2024 Sep 6;15(1):7811. doi: 10.1038/s41467-024-52136-5. Nat Commun. 2024. PMID: 39242582 Free PMC article.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Among authors: vilain e. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472 Free PMC article.
"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Smith ED, Savage SK, Andrew EH, Martin GM, Kahn-Kirby AH, LoTempio J, Délot E, Cohen AJ, Pitsava G, Berger S, Fusaro VA, Vilain E. Smith ED, et al. Among authors: vilain e. bioRxiv [Preprint]. 2023 Jan 24:2023.01.23.525221. doi: 10.1101/2023.01.23.525221. bioRxiv. 2023. PMID: 36747692 Free PMC article. Preprint.
A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Cui Y, Ye W, Li JS, Li JJ, Vilain E, Sallam T, Li W. Cui Y, et al. Among authors: vilain e. Cell. 2024 Oct 4:S0092-8674(24)01145-0. doi: 10.1016/j.cell.2024.09.045. Online ahead of print. Cell. 2024. PMID: 39368475 Free article. No abstract available.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: vilain e. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
234 results