Whereas large-scale statistical analyses can robustly identify disease-gene relationships,
they do not accurately capture genotype-phenotype correlations or disease mechanisms. We …

Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis
of rare diseases. The publication of episignatures as effective biomarkers of certain …

Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase
deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne …

Although gene-gene interaction, or epistasis, plays a large role in complex traits in model
organisms, genome-wide by genome-wide searches for two-way interaction have limited …

Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a
major challenge. These diseases often have a severe presentation and unknown prognosis, …

Objective To better understand patients’ conditions and expectations before starting a
uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser …

… (27) • Christèle Dubourg (2,4) • Sylvie Odent (1,2) • Valérie Dupé (2) *Alinoë Lavillaureix
et Paul Rollier contributed equally to this work Correspondence to valerie.dupe@univ-rennes.fr …

While chromosomal translocations are usually associated with a normal phenotype, they can
still cause male infertility as well as recurrent miscarriages and fetal malformations related …

Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616)
was first described in a cohort of 15 individuals in 2017. The syndrome comprises …

Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and
patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several …