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2015 2
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort.
Mathioudakis L, Dimovasili C, Bourbouli M, Latsoudis H, Kokosali E, Gouna G, Vogiatzi E, Basta M, Kapetanaki S, Panagiotakis S, Kanterakis A, Boumpas D, Lionis C, Plaitakis A, Simos P, Vgontzas A, Kafetzopoulos D, Zaganas I. Mathioudakis L, et al. Among authors: bourbouli m. Neurobiol Aging. 2023 Mar;123:111-128. doi: 10.1016/j.neurobiolaging.2022.07.002. Epub 2022 Jul 11. Neurobiol Aging. 2023. PMID: 36117051
In vivo Prevalence of Alzheimer Biomarkers in Dementia with Lewy Bodies.
Paraskevas GP, Bougea A, Constantinides VC, Bourbouli M, Petropoulou O, Kapaki E. Paraskevas GP, et al. Among authors: bourbouli m. Dement Geriatr Cogn Disord. 2019;47(4-6):289-296. doi: 10.1159/000500567. Epub 2019 Jul 16. Dement Geriatr Cogn Disord. 2019. PMID: 31311013
19 results