User profiles for Sebastien Jacquemont
Sebastien JacquemontCHU Sainte Justine Research Center, University of Montreal Verified email at umontreal.ca Cited by 16092 |
[PDF][PDF] A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders
S Jacquemont, BP Coe, M Hersch, MH Duyzend… - The American Journal of …, 2014 - cell.com
Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a "female protective model." We investigated the …
disorders (NDs), leading to the concept of a "female protective model." We investigated the …
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
… Sébastien Lebon17, … Sébastien Jacquemont1, … .reymond{at}unil.ch; Sébastien Jacquemont,
Service de Génétique Médicale, CHUV, Ave Pierrre Decker, 2, 1011 Lausanne, Switzerland, …
Service de Génétique Médicale, CHUV, Ave Pierrre Decker, 2, 1011 Lausanne, Switzerland, …
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
…, R Hagerman, W Spooren, S Jacquemont - Nature reviews Drug …, 2018 - nature.com
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 …
and behavioural deficits and represent a major public health burden. FXS is the most …
[PDF][PDF] Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
S Jacquemont, RJ Hagerman, M Leehey… - The American Journal of …, 2003 - cell.com
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 …
premutation and are affected by a multisystem, progressive neurological disorder. The two main …
Penetrance of the fragile X–associated tremor/ataxia syndrome in a premutation carrier population
S Jacquemont, RJ Hagerman, MA Leehey, DA Hall… - Jama, 2004 - jamanetwork.com
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 …
gene are frequent in the general population, with estimated prevalences of 1 per 259 …
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
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 …
between the Western ‘obesogenic’ environment and a strong genetic contribution 1 . Recent …
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
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 …
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …
[HTML][HTML] Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles
…, P Cárdenas, ME Baldeón, S Jacquemont… - Nature …, 2023 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut–brain …
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut–brain …
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
…, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont… - Nature, 2012 - nature.com
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 …
dissected a region of the 16p11.2 chromosome—which encompasses 29 genes—that confers …
Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
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 …
behavioral problems. It is caused by expansion of a CGG repeat in the 5′ untranslated …