Duffourd, Yannis

Top Publications

Top Publications Authored or Co-Authored by "Duffourd, Yannis"

• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 63
• Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

  Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 42
• Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

  European Journal of Human Genetics, Volume 23, No. 7, Year 2015, Citations 41
• 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