Hamel, Ben C.J.

Top Publications

Top Publications Authored or Co-Authored by "Hamel, Ben C.J."

• Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

  Nature Genetics, Volume 40, No. 2, Year 2008, Citations 318
• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

  Nature Genetics, Volume 35, No. 4, Year 2003, Citations 160
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

  American Journal of Human Genetics, Volume 86, No. 2, Year 2010, Citations 88
• Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

  European Journal of Human Genetics, Volume 2, No. 4, Year 1994, Citations 68