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Page 1
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: ait yahya e. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049610
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP. Leclerc J, et al. Among authors: ait yahya e. Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790873 Free article.
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M, Destailleur E, Szuster I, Lovecchio T, Leclerc J, Frénois F, Esquivel E, Dahia PLM, Ait-Yahya E, Crépin M, Pigny P. Cardot Bauters C, et al. Among authors: ait yahya e. Endocr Connect. 2020 Oct;9(10):1042-1050. doi: 10.1530/EC-20-0460. Endocr Connect. 2020. PMID: 33112832 Free PMC article.
Galectin-3 modulates epithelial cell adaptation to stress at the ER-mitochondria interface.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, Bongiovanni A, Gaston C, de Beco S, Barois N, van Seuningen I, Durand E, Bonnefond A, Vienne JC, Vamecq J, Figeac M, Vincent A, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: ait yahya e. Cell Death Dis. 2020 May 12;11(5):360. doi: 10.1038/s41419-020-2556-3. Cell Death Dis. 2020. PMID: 32398681 Free PMC article.
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.
Coppin L, Plouvier P, Crépin M, Jourdain AS, Ait Yahya E, Richard S, Bressac-de Paillerets B, Cardot-Bauters C, Lejeune S, Leclerc J, Pigny P. Coppin L, et al. Among authors: ait yahya e. J Mol Diagn. 2019 May;21(3):462-470. doi: 10.1016/j.jmoldx.2019.01.005. Epub 2019 Feb 5. J Mol Diagn. 2019. PMID: 30731206 Free article.
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: ait yahya e. Genet Med. 2024 Sep 10;26(12):101266. doi: 10.1016/j.gim.2024.101266. Online ahead of print. Genet Med. 2024. PMID: 39268718
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.
Vanlerberghe C, Jourdain AS, Frenois F, Ait-Yahya E, Bamshad M, Dieux A, Dufour W, Leduc F, Manouvrier-Hanu S, Patterson K, Ghoumid J, Escande F, Smol T, Brunelle P, Petit F. Vanlerberghe C, et al. Among authors: ait yahya e. Genet Med. 2024 Sep 10;26(12):101267. doi: 10.1016/j.gim.2024.101267. Online ahead of print. Genet Med. 2024. PMID: 39268717
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Plante-Bordeneuve P, Boussion S, Rama M, Brunelle P, Thuillier C, Vanlerberghe C, Caumes R, Colson C, Ait-Yahya E, Ghoumid J, Smol T. Plante-Bordeneuve P, et al. Among authors: ait yahya e. Am J Med Genet A. 2024 Dec;194(12):e63820. doi: 10.1002/ajmg.a.63820. Epub 2024 Jul 12. Am J Med Genet A. 2024. PMID: 38997820