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Page 1
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Ngole M, Mbayabo G, Lumbala P, Race V, Mvuama N, Deman S, Souche E, Lukusa PT, Van Geet C, Devriendt K, Matthijs G, Lumaka A, Cleynen I. Ngole M, et al. Among authors: souche e. Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025. Mediterr J Hematol Infect Dis. 2025. PMID: 39830798 Free PMC article. No abstract available.
Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Sousa Santos M, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn D, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: souche e. Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124. Online ahead of print. Genome Res. 2024. PMID: 39537358
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: souche e. J Biol Chem. 2024 Dec;300(12):107875. doi: 10.1016/j.jbc.2024.107875. Epub 2024 Oct 10. J Biol Chem. 2024. PMID: 39395802 Free PMC article.
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: souche e. bioRxiv [Preprint]. 2024 Jun 18:2024.06.18.599300. doi: 10.1101/2024.06.18.599300. bioRxiv. 2024. Update in: J Biol Chem. 2024 Dec;300(12):107875. doi: 10.1016/j.jbc.2024.107875 PMID: 38948797 Free PMC article. Updated. Preprint.
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
Vervoort L, Dierckxsens N, Santos MS, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn DM, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR. Vervoort L, et al. Among authors: souche e. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. Update in: Genome Res. 2024 Nov 13:gr.279331.124. doi: 10.1101/gr.279331.124 PMID: 38562770 Free PMC article. Updated. Preprint.
Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11.
Odrzywolski A, Tüysüz B, Debeer P, Souche E, Voet A, Dimitrov B, Krzesińska P, Vermeesch JR, Tylzanowski P. Odrzywolski A, et al. Among authors: souche e. Genes (Basel). 2024 Jan 20;15(1):129. doi: 10.3390/genes15010129. Genes (Basel). 2024. PMID: 38275609 Free PMC article.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: souche e. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
40 results