François Rousseau

TL;DR: expression of the fragile X syndrome appears to result from a two-step mutation as well as a highly localized methylation, and can easily be detected regardless of sex or phenotypic expression.

TL;DR: Light is shed on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility and within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways.

TL;DR: This work has devised a method of identifying carriers of these mutations by direct DNA analysis and distinguished clearly in a single test between the normal genotype, the premutation, and the full mutation.

TL;DR: Evidence is provided that low‐frequency non‐coding variants have large effects on BMD and fracture, thereby providing rationale for whole‐genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.

TL;DR: This work has screened 10,624 unselected women by Southern blot for the presence of FMR1 premutation alleles and confirmed their size by PCR analysis, and identified an inferred haplotype that corresponds to the most frequent haplotype found in fragile X males and may indeed constitute premutations associated with a significant risk of expansion on transmission by carrier women.