Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Tania Attié‐Bitach, Clare V. Logan et al.|Nature Genetics|2010Cited by 285
Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Darius Ebrahimi‐Fakhari, Michael Zech et al.|Human Mutation|2021Cited by 31
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Fuad Al Mutairi, Reza Maroofian et al.|Genetics in Medicine|2023Cited by 12