Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a "female protective model." We investigated the …

… Sébastien Lebon17, … Sébastien Jacquemont1, … .reymond{at}unil.ch; Sébastien Jacquemont,
Service de Génétique Médicale, CHUV, Ave Pierrre Decker, 2, 1011 Lausanne, Switzerland, …

Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X
premutation and are affected by a multisystem, progressive neurological disorder. The two main …

ContextPremutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1)
gene are frequent in the general population, with estimated prevalences of 1 per 259 …

Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western ‘obesogenic’ environment and a strong genetic contribution 1 . Recent …

Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut–brain …

Copy number variants (CNVs) are major contributors to genetic disorders 1 . We have
dissected a region of the 16p11.2 chromosome—which encompasses 29 genes—that confers …

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and
behavioral problems. It is caused by expansion of a CGG repeat in the 5′ untranslated …