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Page 1
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: dheedene a. 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.
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: dheedene a. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311381. doi: 10.1101/2024.08.07.24311381. medRxiv. 2024. Update in: Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. PMID: 39148819 Free PMC article. Updated. Preprint.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, 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, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Among authors: dheedene a. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947 Free PMC article.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: dheedene a. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L, D'haenens E, Vantomme L, Backers L, Beyens A, Claes KB, De Clercq G, de Putter R, Kumps C, Schuermans N, Sourbron J, Syryn H, Tavernier S, Vanbelleghem E, Vanakker O, Vandekerckhove B, Van Damme T, Callewaert B, Dheedene A, Vergult S, Menten B. De Cock L, et al. Among authors: dheedene a. NPJ Genom Med. 2025 May 28;10(1):45. doi: 10.1038/s41525-025-00502-7. NPJ Genom Med. 2025. PMID: 40436861 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: dheedene a. 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.
FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. Among authors: dheedene a. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298
Expanding the Phenotype of B3GALNT2-Related Disorders.
D'haenens E, Vergult S, Menten B, Dheedene A, Kooy RF, Callewaert B. D'haenens E, et al. Among authors: dheedene a. Genes (Basel). 2022 Apr 14;13(4):694. doi: 10.3390/genes13040694. Genes (Basel). 2022. PMID: 35456500 Free PMC article.
56 results