Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloès, Jean‐Baptiste Rivière, Albert David et al.|European Journal of Human Genetics|2014Cited by 174
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth Bhoj, Alain Verloès, Damien Haye et al.|European Journal of Medical Genetics|2018Cited by 35
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humansNina Dupuis, Vincent El Ghouzzi, Assia Fafouri et al.|Human Molecular Genetics|2015Cited by 32
A biallelic variant in<i>GORASP1</i>causes a novel Golgipathy with glycosylation and mitotic defectsSophie Lebon, Vincent El Ghouzzi, Arnaud Bruneel et al.|Life Science Alliance|2025Cited by 3
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N. Anderson, Ivan Ivanovski, Stephan Drukewitz et al.|Universität Zürich, ZORA|2026Cited by 0