Healthcare recommendations for Joubert syndromeRuxandra Bachmann‐Gagescu, Dan Doherty, Jennifer C. Dempsey et al.|American Journal of Medical Genetics Part A|2019Cited by 121
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne O’Donnell‐Luria, Kirsty McWalter, Kimberly Amburgey et al.|The American Journal of Human Genetics|2019Cited by 99
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G. Slaats, Dan Doherty, Christine R. Isabella et al.|Journal of Medical Genetics|2015Cited by 52
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria João Nabais Sá, Anneke T. Vulto-vanSilfhout, Philip J. Jensik et al.|Genetics in Medicine|2019Cited by 33