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.

Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26.

PMID: 38412861 

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Van den Broecke A, Decruyenaere A, Schuermans N, Verdin H, Ghijsels J, Sieben A, Dermaut B, Hemelsoet D.

J Neurol. 2024 Jan;271(1):263-273. doi: 10.1007/s00415-023-11968-9. Epub 2023 Sep 9.

PMID: 37689591