Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial DwarfismAnita Rauch, André Reis, Timm O. Goecke et al.|Science|2008Cited by 397
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Julie Vogt, Gemma Poke et al.|Journal of Medical Genetics|2014Cited by 171
Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotypeKatrina Tatton‐Brown, Nazneen Rahman, Anne R. Murray et al.|American Journal of Medical Genetics Part A|2013Cited by 148
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick Short et al.|Genome Research|2018Cited by 102