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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. Vandewalle J, et al. Among authors: fieremans n. Hum Genet. 2013 Oct;132(10):1177-85. doi: 10.1007/s00439-013-1322-3. Epub 2013 Jun 20. Hum Genet. 2013. PMID: 23783460
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, Vogels A, Männik K, Õunap K, Jacqueline V, Briault S, Van Esch H, D'Adamo P, Froyen G. Vanmarsenille L, et al. Among authors: fieremans n. Hum Mutat. 2014 Mar;35(3):377-83. doi: 10.1002/humu.22497. Hum Mutat. 2014. PMID: 24357492
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bours V, De Leener A, De Rademaeker M, Désir J, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens K, Janssens S, Lederer D, Marichal A, Menten B, Meunier C, Palmeira L, Pichon B, Sammels E, Smits G, Sznajer Y, Vantroys E, Devriendt K, Vermeesch JR. Van Den Bogaert K, et al. Among authors: fieremans n. Genet Med. 2021 Jun;23(6):1137-1142. doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564150 Free article.
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.
Parijs I, Brison N, Vancoillie L, Baetens M, Blaumeiser B, Boulanger S, Désir J, Dimitrov B, Fieremans N, Janssens K, Janssens S, Marichal A, Menten B, Meunier C, Van Berkel K, Van Den Bogaert A, Devriendt K, Van Den Bogaert K, Vermeesch JR. Parijs I, et al. Among authors: fieremans n. Eur J Hum Genet. 2024 Jan;32(1):31-36. doi: 10.1038/s41431-023-01336-6. Epub 2023 Apr 7. Eur J Hum Genet. 2024. PMID: 37029316
12 results