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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

Hemant Bengani , Detelina Grozeva , Lambert Moyon , Shipra Bhatia , Susana R Louros , et al.
PLoS ONE, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩
Article dans une revue hal-03457539v1
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COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Ruth de Diego-Balaguer , Catherine Schramm , Isabelle Rebeix , Emmanuel Dupoux , Alexandra Durr , et al.
PLoS ONE, 2016, 11 (9), pp.e0161106. ⟨10.1371/journal.pone.0161106⟩
Article dans une revue hal-02326563v1

CNS/PNS boundary transgression by central glia in the absence of Schwann cells or Krox20/Egr2 function.

Fanny Coulpier , Laurence Decker , Benoît Funalot , Jean-Michel Vallat , Federico Garcia-Bragado , et al.
Journal of Neuroscience, 2010, 30 (17), pp.5958-67. ⟨10.1523/JNEUROSCI.0017-10.2010⟩
Article dans une revue hal-00629786v1
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Genetic modification of the human germ line : the reasons why this project has faded

Michel Morange
Comptes Rendus Biologies, 2015, Biologie et devenir technologique de l'homme / Biology and the technological future of man - Bruxelles, 9 et 10 octobre 2014 / Brussels, 9 and 10 October 2014, ⟨10.1016/j.crvi.2015.07.005⟩
Article dans une revue hal-01347711v1
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A functional operon delineates an extracellular pathway that controls body asymmetry only in animals with a ciliated left-right organizer

Emmanuelle Szenker-Ravi , Tim Ott , Muznah Khatoo , Anne Moreau de Bellaing , Wei Xuan Goh , et al.
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Article dans une revue hal-03876795v1

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra , et al.
Genetics in Medicine, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Article dans une revue hal-02063270v1
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Individual differences in cocaine-induced conditioned place preference in male rats: Behavioral and transcriptomic evidence

Luisa Alessandra Atehortua Martinez , Emmanuel Curis , Nawel Mekdad , Claire Larrieu , Cindie Courtin , et al.
Journal of Psychopharmacology, 2022, 36 (10), pp.1161-1175. ⟨10.1177/02698811221123047⟩
Article dans une revue hal-03784427v1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Diana Dincã , Anchel González-Barriga , Geraldine Sicot , Louison Lallemant , Laure-Elise Pillet , et al.
Pré-publication, Document de travail hal-03863376v1
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Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances.

Florence Vorspan , Romain Icick , Nawel Mekdad , Cindie Courtin , Vanessa Bloch , et al.
Translational Psychiatry, 2020, 10 (1), pp.381. ⟨10.1038/s41398-020-01050-7⟩
Article dans une revue hal-03024249v1
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Molecular Classification of Malignant Pleural Mesothelioma: Identification of a Poor Prognosis Subgroup Linked to the Epithelial-to-Mesenchymal Transition

Aurélien de Reyniès , Marie-Claude Jaurand , Annie Renier , Gabrielle Couchy , Ilir Hysi , et al.
Clinical Cancer Research, 2014, 20 (5), pp.1323-1334. ⟨10.1158/1078-0432.CCR-13-2429⟩
Article dans une revue inserm-02478599v2
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Classification of non-coding variants with high pathogenic impact

Lambert Moyon , Camille Berthelot , Alexandra Louis , Nga Thi Thuy Nguyen , Hugues Roest Crollius
PLoS Genetics, 2022, 18 (4), pp.e1010191. ⟨10.1371/journal.pgen.1010191⟩
Article dans une revue hal-03698847v1
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Alessandro Gialluisi , Till F M Andlauer , Nazanin Mirza-Schreiber , Kristina Moll , Jessica Becker , et al.
Translational Psychiatry, 2019, 9, pp.77. ⟨10.1038/s41398-019-0402-0⟩
Article dans une revue hal-02158502v1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Diana Mihaela Dincã , Louison Lallemant , Anchel González-Barriga , Noemie Cresto , Sandra Braz , et al.
International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan
Poster de conférence hal-04006873v1

Correction: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra , et al.
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Article dans une revue hal-02066352v1
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Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

Eloisa Carta , Seo-Kyung Chung , Victoria M James , Angela Robinson , Jennifer L Gill , et al.
Journal of Biological Chemistry, 2012, 287 (34), pp.28975-28985. ⟨10.1074/jbc.M112.372094⟩
Article dans une revue hal-04058197v1
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Gene x environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms

Sylvie Tordjman , Eszter Somogyi , Nathalie . Coulon , Solenn Kermarrec , David Cohen , et al.
Frontiers in Psychiatry, 2014, 5, pp.53. ⟨10.3389/fpsyt.2014.00053⟩
Article dans une revue hal-03118801v1

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Giovanna Mantovani , Murat Bastepe , David Monk , Luisa de Sanctis , Susanne Thiele , et al.
Nature Reviews Endocrinology, 2018, 14 (8), pp.476-500. ⟨10.1038/s41574-018-0042-0⟩
Article dans une revue hal-02392788v1

Increased risk of ADHD in families with ASD

Mathilde Septier , Hugo Peyre , Fréderique Amsellem , Anita Beggiato , Anna Maruani , et al.
European Child and Adolescent Psychiatry, 2019, 28 (2), pp.281-288. ⟨10.1007/s00787-018-1206-0⟩
Article dans une revue pasteur-04069013v1
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Unifying diseases through common genetic mechanisms: the example of the genetic theory of infectious diseases

Marie Darrason
Theoretical Medicine and Bioethics, 2013, 34 (4), pp.327-344. ⟨10.1007/s11017-013-9260-6⟩
Article dans une revue halshs-00867328v1

The adhesion mediated by the P-selectin P-selectin glycoprotein ligand-1 (PSGL-1) couple is stronger for shorter PSGL-1 variants.

Sandrine Barbaux , Odette Poirier , Frédéric Pincet , Patricia Hermand , Laurence Tiret , et al.
Journal of Leukocyte Biology, 2010, 87 (4), pp.727-34. ⟨10.1189/jlb.0609408⟩
Article dans une revue hal-00594187v1
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CADPS functional mutations in patients with bipolar disorder increase the sensitivity to stress

Jeremy Sitbon , Dennis Nestvogel , Caroline Kappeler , Aude Nicolas , Stephanie Maciuba , et al.
Molecular Psychiatry, 2022, 27 (2), pp.1145-1157. ⟨10.1038/s41380-021-01151-9⟩
Article dans une revue inserm-03709071v1
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Boundary Caps Give Rise to Neurogenic Stem Cells and Terminal Glia in the Skin

Aurélie Gresset , Fanny Coulpier , Gaspard Gerschenfeld , Alexandre Jourdon , Graziella Matesic , et al.
Stem Cell Reports, 2015, 5 (2), pp.278-290. ⟨10.1016/j.stemcr.2015.06.005⟩
Article dans une revue hal-01188808v1

RNA toxicity in myotonic dystrophy causes pronounced spliceopathy in astrocytes, in association with defective cell adhesion and morphology, erratic migration and impaired polarization

Diana Mihaela Dincã , Anchel González-Barriga , Sandra Braz , Laure-Elise Pillet , Noémie Cresto , et al.
Cold Spring Harbor Laboratory Meeting on Glia in Health and Disease, Jul 2020, Cold Spring Harbor (New York), United States
Poster de conférence hal-04009836v1

Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution.

Anne Desmazières , Laurence Decker , Jean-Michel Vallat , Patrick Charnay , Pascale Gilardi-Hebenstreit
Journal of Neuroscience, 2008, 28 (23), pp.5891-900. ⟨10.1523/JNEUROSCI.5187-07.2008⟩
Article dans une revue hal-00651736v1

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Hugo Lenglet , Caroline Schmitt , Thomas Grange , Hana Manceau , Narjesse Karboul , et al.
Human Molecular Genetics, 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩
Article dans une revue hal-02351445v1

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

F. Touzot , L. Kermasson , L. Jullien , D. Moshous , C. Ménard , et al.
Blood Advances, 2016, 1 (1), pp.36-46. ⟨10.1182/bloodadvances.2016001313⟩
Article dans une revue hal-02105048v1

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

Patrick Hanna , Virginie Grybek , Guiomar Perez de Nanclares , Léa Tran , Luisa de Sanctis , et al.
Journal of Bone and Mineral Research, 2018, 33 (8), pp.1480-1488. ⟨10.1002/jbmr.3450⟩
Article dans une revue hal-02392800v1
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents , et al.
Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Article dans une revue hal-01662672v1