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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: van esch h. bioRxiv [Preprint]. 2024 Mar 18:2024.03.14.585046. doi: 10.1101/2024.03.14.585046. bioRxiv. 2024. PMID: 38562770 Free PMC article. Preprint.
Presenting symptoms in adults with the 22q11 deletion syndrome.
Vogels A, Schevenels S, Cayenberghs R, Weyts E, Van Buggenhout G, Swillen A, Van Esch H, de Ravel T, Corveleyn P, Devriendt K. Vogels A, et al. Among authors: van esch h, van buggenhout g. Eur J Med Genet. 2014 Mar;57(4):157-62. doi: 10.1016/j.ejmg.2014.02.008. Epub 2014 Feb 24. Eur J Med Genet. 2014. PMID: 24576609 Free article.
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR. Cristofoli F, et al. Among authors: van esch h. Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11. Hum Mutat. 2018. PMID: 29691940 Free PMC article.
Pseudoautosomal region 1 length polymorphism in the human population.
Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR. Mensah MA, et al. Among authors: van esch h, van houdt j. PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25375121 Free PMC article.
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Brison N, et al. Among authors: van den bogaert k, van esch h, van den oever jm, van buggenhout g. Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1. Genet Med. 2017. PMID: 27584908 Free article.
217 results