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
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Lori A.H. Erby, Valérie Biancalana et al.|Human Mutation|2012Cited by 137
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Christian P. Schaaf, Chun‐An Chen et al.|Genetics in Medicine|2022Cited by 24
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 CountriesHashim Halim‐Fikri, Carsten W. Lederer, Atif Amin Baig et al.|Journal of Personalized Medicine|2022Cited by 20