Jonveaux, Philippe

Top Publications

Top Publications Authored or Co-Authored by "Jonveaux, Philippe"

• BRCA1 R1699Q variant displaying ambiguous Functional abrogation confers intermediate breast And ovarian cancer risk

  Journal of Medical Genetics, Volume 49, No. 8, Year 2012, Citations 101
• SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

  Neurology, Volume 73, No. 14, Year 2009, Citations 87
• Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

  Neurogenetics, Volume 7, No. 3, Year 2006, Citations 40
• Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

  American Journal of Human Genetics, Volume 99, No. 6, Year 2016, Citations 34
• DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

  Human Mutation, Volume 25, No. 1, Year 2005, Citations 12