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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: giesbertz n. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
Consent procedures in pediatric biobanks.
Giesbertz NA, Bredenoord AL, van Delden JJ. Giesbertz NA, et al. Eur J Hum Genet. 2015 Sep;23(9):1129-34. doi: 10.1038/ejhg.2014.267. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537361 Free PMC article.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Among authors: giesbertz naa. Circ Genom Precis Med. 2024 Apr 16:e003978. doi: 10.1161/CIRCGEN.122.003978. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38623759 Free article.
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.
Koster R, Schipper LJ, Giesbertz NAA, van Beek D, Mendeville M, Samsom KG, Rosenberg EH, Hogervorst FBL, Roepman P, Boelens MC, Bosch LJW, van den Berg JG, Meijer GA, Voest EE, Cuppen E, Ruijs MWG, van Wezel T, van der Kolk L, Monkhorst K. Koster R, et al. Among authors: giesbertz naa. Genet Med. 2024 Feb;26(2):101032. doi: 10.1016/j.gim.2023.101032. Epub 2023 Nov 22. Genet Med. 2024. PMID: 38006283
Why We Should Understand Conversational AI as a Tool.
van Lingen MN, Giesbertz NAA, van Tintelen JP, Jongsma KR. van Lingen MN, et al. Among authors: giesbertz naa. Am J Bioeth. 2023 May;23(5):22-24. doi: 10.1080/15265161.2023.2191039. Am J Bioeth. 2023. PMID: 37130401 No abstract available.
Unconsented genetic testing in psychiatry: an (almost) no go?
Luykx JJ, van der Spek R, van Veen S, Lo-A-Foe W, Giesbertz NAA, Bredenoord AL, Palmboom GG. Luykx JJ, et al. Among authors: giesbertz naa. Lancet Psychiatry. 2019 Aug;6(8):641-642. doi: 10.1016/S2215-0366(19)30206-8. Lancet Psychiatry. 2019. PMID: 31327434 No abstract available.
A duty to recontact in genetics: context matters.
Giesbertz NAA, van Harten WH, Bredenoord AL. Giesbertz NAA, et al. Nat Rev Genet. 2019 Jul;20(7):371-372. doi: 10.1038/s41576-019-0121-7. Nat Rev Genet. 2019. PMID: 30932026 No abstract available.
16 results