Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloès, Jean‐Baptiste Rivière, Francesca Faravelli et al.|European Journal of Human Genetics|2014Cited by 174
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J. Kaiser, Sarah E. Noon, Morad Ansari et al.|Human Molecular Genetics|2014Cited by 151
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Nataliya Di Donato, Tahsin Stefan Barakat et al.|Nature Reviews Neurology|2020Cited by 137
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Michael J. Bamshad, Erica L. Macke et al.|The American Journal of Human Genetics|2023Cited by 38
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Joseph G. Gleeson, Dillon Y. Chen et al.|The American Journal of Human Genetics|2019Cited by 23