Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndromeSarah E. Sheppard, Brian Hon‐Yin Chung, Ian M. Campbell et al.|American Journal of Medical Genetics Part A|2021Cited by 72
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Yuri A. Zárate, Gabrielle Lemire et al.|Genetics in Medicine|2020Cited by 62
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Josef Penninger, Francisco J. Monje et al.|Neurology Genetics|2019Cited by 35
<scp><i>EP300</i></scp>‐related <scp>Rubinstein–Taybi</scp> syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patientsJennifer L. Cohen, Matthew A. Deardorff, Samantha A. Schrier Vergano et al.|American Journal of Medical Genetics Part A|2020Cited by 32
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Elizabeth Bhoj, Michael March et al.|Human Genetics|2021Cited by 8