Sebastien Jacquemont
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Explore the profile of Sebastien Jacquemont including associated specialties, affiliations and a list of published articles.
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163
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5640
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Recent Articles
1.
Kazem S, Kumar K, Jean-Louis M, Huguet G, Renne T, Saci Z, et al.
medRxiv
. 2025 Mar;
PMID: 40061331
Methods: We developed FunBurd, a functional burden analysis, to test the association of CNVs aggregated within functional gene sets. We applied this approach in 500,000 individuals from the UK Biobank...
2.
Liao Z, Kumar K, Kopal J, Huguet G, Saci Z, Jean-Louis M, et al.
Nat Commun
. 2025 Feb;
16(1):1697.
PMID: 39962045
The tangential expansion of the human cerebral cortex, indexed by its surface area (SA), occurs mainly during prenatal and early postnatal periods, and is influenced by genetic factors. Here we...
3.
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, et al.
Cell Genom
. 2024 Dec;
4(12):100721.
PMID: 39667348
Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive...
4.
Villalon-Reina J, Moreau C, Nir T, Jahanshad N, Maillard A, Romascano D, et al.
Med Image Comput Comput Assist Interv
. 2024 Oct;
13431:207-217.
PMID: 39479363
Multi-site imaging studies can increase statistical power and improve the reproducibility and generalizability of findings, yet data often need to be harmonized. One alternative to data harmonization in the normative...
5.
Proteau-Lemieux M, Knoth I, Davoudi S, Martin C, Belanger A, Fontaine V, et al.
J Neurodev Disord
. 2024 Sep;
16(1):53.
PMID: 39251926
Background: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most...
6.
Vorstman J, Sebat J, Bourque V, Jacquemont S
Mol Psychiatry
. 2024 Aug;
30(1):229-236.
PMID: 39215185
The role of genetic testing in the domain of neurodevelopmental and psychiatric disorders (NPDs) is gradually changing from providing etiological explanation for the presence of NPD phenotypes to also identifying...
7.
Bourque V, Schmilovich Z, Huguet G, England J, Okewole A, Poulain C, et al.
medRxiv
. 2024 Aug;
PMID: 39211846
Although the first signs of autism are often observed as early as 18-36 months of age, there is a broad uncertainty regarding future development, and clinicians lack predictive tools to...
8.
Schultz L, Knighton A, Huguet G, Saci Z, Jean-Louis M, Mollon J, et al.
HGG Adv
. 2024 Aug;
5(4):100340.
PMID: 39138864
Copy-number variants (CNVs) have been implicated in a variety of neuropsychiatric and cognitive phenotypes. We found that deleterious CNVs are less prevalent in non-European ancestry groups than they are in...
9.
Gur R, Bearden C, Jacquemont S, Swillen A, van Amelsvoort T, van den Bree M, et al.
Mol Psychiatry
. 2024 Jul;
30(2):379-387.
PMID: 39048645
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are genetic disorders with lifespan risk for neuropsychiatric disorders. Microdeletions and duplications are associated with neurocognitive deficits, yet...
10.
Rots D, Choufani S, Faundes V, Dingemans A, Joss S, Foulds N, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1626-1642.
PMID: 39013459
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums...