Billette-De-Villemeur, Thierry

Top Publications

Top Publications Authored or Co-Authored by "Billette-De-Villemeur, Thierry"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

  Neurology, Volume 73, No. 12, Year 2009, Citations 114
• A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

  Brain and Development, Volume 33, No. 2, Year 2011, Citations 13
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

  Kidney International, Volume 104, No. 2, Year 2023, Citations 3