Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Sebastian S. Gerety, Liu He et al.|Genome Research|2018Cited by 102
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesNirupa Murugaesu, Reza Maroofian, Büşranur Çavdarlı et al.|Genetics in Medicine|2021Cited by 28
Biallelic <scp><i>KITLG</i></scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing lossBarbara Vona, Sofia Douzgou, D.A. Schwartzbaum et al.|Journal of the European Academy of Dermatology and Venereology|2022Cited by 13
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Sofia Douzgou, Denisa Weis et al.|European Journal of Human Genetics|2024Cited by 6