Loss‐of‐function variants in <i>NFIA</i> provide further support that <i>NFIA</i> is a critical gene in 1p32‐p31 deletion syndrome: A four patient seriesAnya Revah‐Politi, Kwame Anyane‐Yeboa, Alejandro Iglesias et al.|American Journal of Medical Genetics Part A|2017Cited by 54
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesisMythily Ganapathi, Bernd Wollnik, Loukas Argyriou et al.|Human Genetics|2020Cited by 32
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Elizabeth Bhoj, Leticia S. Matsuoka et al.|European Journal of Human Genetics|2023Cited by 25