Bahi-Buisson, Nadia

Top Publications

Top Publications Authored or Co-Authored by "Bahi-Buisson, Nadia"

• 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
• TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

  American Journal of Human Genetics, Volume 105, No. 6, Year 2019, Citations 49
• A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

  European Journal of Human Genetics, Volume 16, No. 11, Year 2008, Citations 40
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

  European Journal of Human Genetics, Volume 24, No. 4, Year 2016, Citations 36
• MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

  Nature Communications, Volume 11, No. 1, Article 6087, Year 2020, Citations 31