Thauvin, Christel

Top Publications

Top Publications Authored or Co-Authored by "Thauvin, Christel"

• KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

  Nature Genetics, Volume 44, No. 4, Year 2012, Citations 262
• Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 81
• 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
• Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

  Orphanet Journal of Rare Diseases, Volume 10, No. 1, Article 135, Year 2015, Citations 54
• 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