Le Caignec, Cédric

Top Publications

Top Publications Authored or Co-Authored by "Le Caignec, Cédric"

• Chromosome instability is common in human cleavage-stage embryos

  Nature Medicine, Volume 15, No. 5, Year 2009, Citations 639
• 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
• 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
• Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

  Nature Communications, Volume 13, No. 1, Article 6664, Year 2022, Citations 48
• Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

  American Journal of Human Genetics, Volume 97, No. 1, Year 2015, Citations 47