Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C. Oates, Susan T. Iannaccone, Hugo Sampaio et al.|Annals of Neurology|2018Cited by 164
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Tuuli Lappalainen, Stephane E. Castel et al.|Science|2019Cited by 126
Intrathecal Gene Therapy for Giant Axonal NeuropathyDiana Bharucha‐Goebel, Carsten G. Bönnemann, Joshua J. Todd et al.|New England Journal of Medicine|2024Cited by 56
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Catheline Vilain, Alison M. Barnard et al.|The American Journal of Human Genetics|2021Cited by 41
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Tiphanie P. Vogel, Hagar Mor Shaked et al.|Brain|2023Cited by 34