Guillaume Huguet

Elise Douard

Zohra Saci

Laura Almasy

David C. Glahn

Sébastien Jacquemont

2022-05-01

Biological Psychiatry (publié)

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

Jakub Kopal

Kuldeep Kumar

Karin Saltoun

Claudia Modenato

Clara A. Moreau

Sandra Martin-Brevet

Martineau Jean-Louis

C.O. Martin

Zohra Saci

Nadine Younis

Petra Tamer

Elise Douard

Anne M. Maillard

Borja Rodriguez-Herreros

Aurélie Pain

Sonia Richetin

Leila Kushan

Ana I. Silva

Marianne B.M. van den Bree … (voir 12 de plus)

David E.J. Linden

M. J. Owen

Jeremy Hall

Sarah Lippé

Bogdan Draganski

Ida E. Sønderby

Ole A. Andreassen

David C. Glahn

Paul M. Thompson

Carrie E. Bearden

Sébastien Jacquemont

Danilo Bzdok

Copy number variations (CNVs) are rare genomic deletions and duplications that can exert profound effects on brain and behavior. Previous re… (voir plus)ports of pleiotropy in CNVs imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, studies to date have primarily examined single CNV loci in small clinical cohorts. It remains unknown how distinct CNVs escalate the risk for the same developmental and psychiatric disorders. Here, we quantitatively dissect the impact on brain organization and behavioral differentiation across eight key CNVs. In 534 clinical CNV carriers from multiple sites, we explored CNV-specific brain morphology patterns. We extensively annotated these CNV-associated patterns with deep phenotyping assays through the UK Biobank resource. Although the eight CNVs cause disparate brain changes, they are tied to similar phenotypic profiles across ∼1000 lifestyle indicators. Our population-level investigation established brain structural divergences and phenotypical convergences of CNVs, with direct relevance to major brain disorders.

2022-04-25

bioRxiv (prépublication)

THE EFFECT SIZE OF GENES ON COGNITIVE ABILITIES IS LINKED TO THEIR EXPRESSION ALONG THE MAJOR HIERARCHICAL GRADIENT IN THE HUMAN BRAIN

Sébastien Jacquemont

Elise Douard

Zohra Saci

Laura Almasy

David C. Glahn

2021-10-01

European Neuropsychopharmacology (publié)

Embedding Signals on Knowledge Graphs with Unbalanced Diffusion Earth Mover's Distance

Dennis Shung

Manik Kuchroo

In modern relational machine learning it is common to encounter large graphs that arise via interactions or similarities between observation… (voir plus)s in many domains. Further

2021-01-01

arXiv.org (prépublication)

dblp.uni-trier.de

Embedding Signals on Knowledge Graphs with Unbalanced Diffusion Earth Mover's Distance

Dennis L. Shung

Manik Kuchroo

In modern relational machine learning it is common to encounter large graphs that arise via interactions or similarities between observation… (voir plus)s in many domains. Further

2021-01-01

arXiv.org (preprint)

dblp.uni-trier.de

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Clara A. Moreau

Sebastian G. W. Urchs

Kumar Kuldeep

Pierre Orban

Catherine Schramm

Aurélie Labbe

Elise Douard

Pierre-Olivier Quirion

Amy Lin

Leila Kushan

Stephanie Grot

David Luck

Adrianna Mendrek

Stephane Potvin

Emmanuel Stip

Thomas Bourgeron

Alan C. Evans

Carrie E. Bearden … (voir 2 de plus)

Lune P Bellec

Sébastien Jacquemont

2020-10-19

Nature Communications (publié)

General Principles of Gene Dosage Effects on Brain Structure

Claudia Modenato

Kuldeep Kumar

Clara A. Moreau

Catherine Schramm

Sandra Martin-Brevet

Aurélie Pain

Anne M. Maillard

Sonia Richetin

Borja Rodriguez-Herreros

Lester Melie-Garcia

Ana Dos Santos Silva

Marianne B.M. van den Bree

David E.J. Linden

Carrie E. Bearden

Danilo Bzdok

Sarah Lippé

Mallar Chakravarty

Bogdan Draganski

Sébastien Jacquemont

2020-05-01

Biological Psychiatry (publié)

Neuropsychiatric copy number variants exert shared effects on human brain structure

Claudia Modenato

Kuldeep Kumar

Clara A. Moreau

Sandra Martin-Brevet

Catherine Schramm

Jean-Louis Martineau

Charles-Olivier Martin

C.O. Martin

Nadine Younis

Petra Tamer

Elise Douard

Fanny Thébault-Dagher

Valérie Côté

Audrey-Rose Charlebois

Florence Deguire

Anne M. Maillard

Borja Rodriguez-Herreros

Aurélie Pain

Sonia Richetin … (voir 15 de plus)

16p11.2 European Consortium

Simons Variation in Individuals Project Consortium

Ana I. Silva

Leila Kushan

Lester Melie-Garcia

Marianne B.M. van den Bree

David E.J. Linden

M. J. Owen

Jeremy Hall

Sarah Lippé

Mallar Chakravarty

Danilo Bzdok

Carrie E. Bearden

Bogdan Draganski

Sébastien Jacquemont

2020-04-17

medRxiv (prépublication)

Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Clara A. Moreau

Sebastian Urchs

Pierre Orban

Catherine Schramm

Aurélie Labbe

Elise Douard

Pierre-Olivier Quirion

Amy Lin

Leila Kushan

Stephanie Grot

David Luck

Adrianna Mendrek

Stephane Potvin

Emmanuel Stip

Thomas Bourgeron

Alan C. Evans

Carrie E. Bearden

Lune P Bellec … (voir 1 de plus)

Sébastien Jacquemont

16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Defic… (voir plus)it-Hyperactivity-Disorder (ADHD), but their impact on functional connectivity (FC) remains unclear. We analyzed resting-state functional magnetic resonance imaging data from 101 CNV carriers, 755 individuals with idiopathic ASD, SZ, or ADHD and 1,072 controls. We used CNV FC-signatures to identify dimensions contributing to complex idiopathic conditions. CNVs had large mirror effects on FC at the global and regional level. Thalamus, somatomotor, and posterior insula regions played a critical role in dysconnectivity shared across deletions, duplications, idiopathic ASD, SZ but not ADHD. Individuals with higher similarity to deletion FC-signatures exhibited worse cognitive and behavioral symptoms. Deletion similarities identified at the connectivity level could be related to the redundant associations observed genome-wide between gene expression spatial patterns and FC-signatures. Results may explain why many CNVs affect a similar range of neuropsychiatric symptoms.

2019-12-06

bioRxiv (prépublication)