Basel, Donald G.

Top Publications

Top Publications Authored or Co-Authored by "Basel, Donald G."

• Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27

  American Journal of Human Genetics, Volume 67, No. 1, Year 2000, Citations 285
• Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

  Journal of Clinical Oncology, Volume 39, No. 25, Year 2021, Citations 100
• High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

  Journal of Human Genetics, Volume 66, No. 10, Year 2021, Citations 33
• Chondrodysplasia punctata in siblings and maternal lupus erythematosus

  Clinical Genetics, Volume 66, No. 6, Year 2004, Citations 29
• Retrospective diagnosis of chondrodysplasia punctata

  Australasian Radiology, Volume 50, No. 1, Year 2006, Citations 3