Clinical and Molecular Phenotype of Aicardi-Goutières SyndromeGillian Rice, Rasieka Jayatunga, Rafael Artuch et al.|The American Journal of Human Genetics|2007Cited by 449
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effectsY. Paul Goldberg, Michael R. Hayden, Berry Kremer et al.|Nature Genetics|1993Cited by 246
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Stylianos E. Antonarakis, Reza Maroofian et al.|European Journal of Human Genetics|2018Cited by 69