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1,648 results

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Page 1
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. De Rocker N, et al. Among authors: jacobs e. Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232846 Free article.
CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells.
Jacobs EZ, Warrier S, Volders PJ, D'haene E, Van Lombergen E, Vantomme L, Van der Jeught M, Heindryckx B, Menten B, Vergult S. Jacobs EZ, et al. Sci Rep. 2017 Nov 30;7(1):16650. doi: 10.1038/s41598-017-16932-y. Sci Rep. 2017. PMID: 29192200 Free PMC article.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B. Jacobs EZ, et al. Clin Genet. 2021 Feb;99(2):259-268. doi: 10.1111/cge.13874. Epub 2020 Nov 23. Clin Genet. 2021. PMID: 33131045
Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions.
Mus LM, Van Haver S, Popovic M, Trypsteen W, Lefever S, Zeltner N, Ogando Y, Jacobs EZ, Denecker G, Sanders E, Van Neste C, Vanhauwaert S, Decaesteker B, Deforce D, Van Nieuwerburgh F, Mestdagh P, Vandesompele J, Menten B, De Preter K, Studer L, Heindryckx B, Durinck K, Roberts S, Speleman F. Mus LM, et al. Among authors: jacobs ez. Genes Chromosomes Cancer. 2021 Apr;60(4):272-281. doi: 10.1002/gcc.22931. Epub 2021 Jan 9. Genes Chromosomes Cancer. 2021. PMID: 33336840 Free PMC article.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Among authors: jacobs ez. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861 Free PMC article.
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.
Del Rocío Pérez Baca M, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Demaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Del Rocío Pérez Baca M, et al. Among authors: jacobs ez. medRxiv [Preprint]. 2023 May 24:2023.05.22.23289895. doi: 10.1101/2023.05.22.23289895. medRxiv. 2023. Update in: Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013 PMID: 37292950 Free PMC article. Updated. Preprint.
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
María Del Rocío PB, Palomares Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Syx D, Callewaert B, Vergult S. María Del Rocío PB, et al. Among authors: jacobs ez. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311381. doi: 10.1101/2024.08.07.24311381. medRxiv. 2024. PMID: 39148819 Free PMC article. Preprint.
Luminescent Human iPSC-Derived Neurospheroids Enable Modeling of Neurotoxicity After Oxygen-glucose Deprivation.
Van Breedam E, Nijak A, Buyle-Huybrecht T, Di Stefano J, Boeren M, Govaerts J, Quarta A, Swartenbroekx T, Jacobs EZ, Menten B, Gijsbers R, Delputte P, Alaerts M, Hassannia B, Loeys B, Berneman Z, Timmermans JP, Jorens PG, Vanden Berghe T, Fransen E, Wouters A, De Vos WH, Ponsaerts P. Van Breedam E, et al. Among authors: jacobs ez. Neurotherapeutics. 2022 Mar;19(2):550-569. doi: 10.1007/s13311-022-01212-z. Epub 2022 Mar 14. Neurotherapeutics. 2022. PMID: 35289376 Free PMC article.
Why blood flow restriction cuff features are an important methodological consideration- a short commentary on "cerebral cortex activation and functional connectivity during low-load resistance training with blood flow restriction: an fNIRS study".
Rolnick N, Clarkson M, Hughes L, Korakakis V, De Queiros V, Patterson SD, Buckner S, Werner T, Nascimento DDC, Stray-Gundersen S, Kamiş O, Thoelen M, Kimbrell K, Jacobs E. Rolnick N, et al. Among authors: jacobs e. Front Physiol. 2024 Dec 4;15:1482816. doi: 10.3389/fphys.2024.1482816. eCollection 2024. Front Physiol. 2024. PMID: 39697617 Free PMC article. No abstract available.
1,648 results