Missirian, Chantal

Top Publications

Top Publications Authored or Co-Authored by "Missirian, Chantal"

• 16p13.11 microduplication in 45 new patients: Refined clinical significance and genotype-phenotype correlations

  Journal of Medical Genetics, Volume 57, No. 5, Year 2020, Citations 45
• SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

  Nucleic Acids Research, Volume 47, No. 6, Year 2019, Citations 40
• Subcellular distribution of HP1 proteins is altered in ICF syndrome

  European Journal of Human Genetics, Volume 13, No. 1, Year 2005, Citations 36
• Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

  American Journal of Medical Genetics, Part A, Volume 164, No. 8, Year 2014, Citations 28
• Use of DOP-PCR for amplification and labeling of BAC DNA for FISH

  Biotechnic and Histochemistry, Volume 87, No. 2, Year 2012, Citations 4