Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Heinz Jungbluth, Michael A. Simpson et al.|Nature Genetics|2012Cited by 279
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Kathleen Freson, Karyn Mégy et al.|Blood|2019Cited by 218
COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport SyndromeHelen Storey, Frances Flinter, Judy Savige et al.|Journal of the American Society of Nephrology|2013Cited by 185