Germline mutations in BAP1 predispose to melanocytic tumorsThomas Wiesner, Michael R. Speicher, Anna C. Obenauf et al.|Nature Genetics|2011Cited by 724
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
Mutations in the histamine<i>N</i>-methyltransferase gene,<i>HNMT</i>, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, John B. Vincent, Chanakan Tongsook et al.|Human Molecular Genetics|2015Cited by 33