Philip, Nicole

Top Publications

Top Publications Authored or Co-Authored by "Philip, Nicole"

• Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

  Journal of Medical Genetics, Volume 47, No. 10, Year 2010, Citations 130
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

  Human Genetics, Volume 127, No. 5, Year 2010, Citations 123
• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

  Human Mutation, Volume 14, No. 5, Year 1999, Citations 83