Down syndrome | Tourette syndrome | Asperger syndrome | Marfan syndrome | Down Syndrome | Turner syndrome | Down's syndrome | Asperger's syndrome | Williams syndrome | Stockholm syndrome | Severe acute respiratory syndrome | Rett syndrome | Irukandji syndrome | Chronic fatigue syndrome | Wiskott–Aldrich syndrome protein | Tourette Syndrome Association | syndrome | severe acute respiratory syndrome | Premenstrual syndrome | Le syndrome de Peter Pan | Alport syndrome | Usher syndrome | The China Syndrome | Sudden Infant Death Syndrome | Stockholm Syndrome (band) | Stockholm Syndrome | Stickler syndrome | Stevens–Johnson syndrome | Sjögren's syndrome | Restless legs syndrome |
Among his laboratory's many subsequent discoveries, he is recognized for the cloning of the patched gene family and demonstration that a human homolog PTCH1 is a key tumor suppressor gene for the Hedgehog signaling pathway as well as the causative gene for the nevoid basal cell carcinoma syndrome, or Gorlin syndrome.