Search Results - "JACQUEMONT, Sebastien"

Rare and common autism risk variants converge across 16p by Won, Hyejung, Huguet, Guillaume, Jacquemont, Sébastien

“…Genetic risk factors for autism include both rare and common variants. A study shows that rare copy number variants and common variants across 16p that…”
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Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review by Raznahan, Armin, Won, Hyejung, Glahn, David C, Jacquemont, Sébastien

“…Rare genetic disorders modulating gene expression-as exemplified by gene dosage disorders (GDDs)-represent a collectively common set of high-risk factors for…”
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Integrative genetic analysis: cornerstone of precision psychiatry by Vorstman, Jacob, Sebat, Jonathan, Bourque, Vincent-Raphaël, Jacquemont, Sébastien

“…The role of genetic testing in the domain of neurodevelopmental and psychiatric disorders (NPDs) is gradually changing from providing etiological explanation…”
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders by Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.

“…Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a “female protective model.” We…”
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Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review by Modenato, Claudia, Martin-Brevet, Sandra, Moreau, Clara A., Rodriguez-Herreros, Borja, Kumar, Kuldeep, Draganski, Bogdan, Sønderby, Ida E., Jacquemont, Sébastien

“…Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are associated with neurodevelopmental psychiatric disorders such as autism…”
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Conditional canonical correlation estimation based on covariates with random forests by Alakuş, Cansu, Larocque, Denis, Jacquemont, Sébastien, Barlaam, Fanny, Martin, Charles-Olivier, Agbogba, Kristian, Lippé, Sarah, Labbe, Aurélie

“…Abstract Motivation Investigating the relationships between two sets of variables helps to understand their interactions and can be done with canonical…”
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A framework for the investigation of rare genetic disorders in neuropsychiatry by Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., Bearden, Carrie E.

“…De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in…”
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome by Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia

“…Abstract Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental…”
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant by Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

“…Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we…”
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Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties by Battistella, Giovanni, Najdenovska, Elena, Maeder, Philippe, Ghazaleh, Naghmeh, Daducci, Alessandro, Thiran, Jean-Philippe, Jacquemont, Sébastien, Tuleasca, Constantin, Levivier, Marc, Bach Cuadra, Meritxell, Fornari, Eleonora

“…The thalamus is an essential relay station in the cortical–subcortical connections. It is characterized by a complex anatomical architecture composed of…”
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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis by Isidor, Bertrand, Lindenbaum, Pierre, Pichon, Olivier, Bézieau, Stéphane, Dina, Christian, Jacquemont, Sébastien, Martin-Coignard, Dominique, Thauvin-Robinet, Christel, Le Merrer, Martine, Mandel, Jean-Louis, David, Albert, Faivre, Laurence, Cormier-Daire, Valérie, Redon, Richard, Le Caignec, Cédric

“…Cédric Le Caignec and colleagues show that truncating mutations in the last exon of NOTCH2 cause Hajdu-Cheney syndrome, a rare disorder marked by facial…”
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Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia by Moreau, Clara A., Urchs, Sebastian G. W., Kuldeep, Kumar, Orban, Pierre, Schramm, Catherine, Dumas, Guillaume, Labbe, Aurélie, Huguet, Guillaume, Douard, Elise, Quirion, Pierre-Olivier, Lin, Amy, Kushan, Leila, Grot, Stephanie, Luck, David, Mendrek, Adrianna, Potvin, Stephane, Stip, Emmanuel, Bourgeron, Thomas, Evans, Alan C., Bearden, Carrie E., Bellec, Pierre, Jacquemont, Sebastien

“…16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and…”
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Translating molecular advances in fragile X syndrome into therapy: a review by Hagerman, Randi J, Des-Portes, Vincent, Gasparini, Fabrizio, Jacquemont, Sébastien, Gomez-Mancilla, Baltazar

“…Fragile X syndrome is an inherited disease with cognitive, behavioral, and neurologic manifestations, resulting from a single genetic mutation. A variety of…”
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Modelling Co-Occurring Mental Health Conditions Among Autistic Individuals Using Polygenic Scores by Okewole, Adeniran, Bourque, Vincent-Raphael, Jacquemont, Sebastien, Warrier, Varun, Baron-Cohen, Simon

“…Aims This study investigated the relationship between common genetic variation and co-occurring mental health conditions among autistic individuals. Methods…”
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Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents by Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, von Raison, Florian

“…Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic…”
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Transmission Disequilibrium of Small CNVs in Simplex Autism by Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.

“…We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons…”
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome by Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia

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Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1 by Jacquemont, Sebastien, MD, Hagerman, Randi J, MD, Hagerman, Paul J, PhD, Leehey, Maureen A, MD

“…Summary Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1 , highlight the importance…”
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Tinkering with the vasopressin pathway in autism by Forgeot d'Arc, Baudouin, Mottron, Laurent, Elsabbagh, Mayada, Jacquemont, Sébastien

“…Two clinical trials targeting the vasopressin pathway in autism highlight continuing challenges in outcome measures and statistical power…”
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Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines by Berry-Kravis, Elizabeth, Abrams, Liane, Coffey, Sarah M., Hall, Deborah A., Greco, Claudia, Gane, Louise W., Grigsby, Jim, Bourgeois, James A., Finucane, Brenda, Jacquemont, Sebastien, Brunberg, James A., Zhang, Lin, Lin, Janet, Tassone, Flora, Hagerman, Paul J., Hagerman, Randi J., Leehey, Maureen A.

“…Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent…”
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