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Structure: Internal structure identifier : 92455
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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Xenia Latypova , Marie Vincent , Alice Mollé , Oluwadamilare A Adebambo , Cynthia Fourgeux et al.
American Journal of Human Genetics, 2021, 108 (5), pp.929 - 941. ⟨10.1016/j.ajhg.2021.03.017⟩
Journal articles inserm-03290535v1

A compendium answering 150 questions on COVID‐19 and SARS‐CoV‐2

Carmen Riggioni , Pasquale Comberiati , Mattia Giovannini , Ioana Agache , Mübeccel Akdis et al.
Allergy, 2020, 75 (10), pp.2503-2541. ⟨10.1111/all.14449⟩
Journal articles hal-03609089v1
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Edith Hofer , Gennady V. Roshchupkin , Hieab H. H. Adams , Maria J. Knol , Honghuang Lin et al.
Nature Communications, 2020, 11, pp.4796. ⟨10.1038/s41467-020-18367-y⟩
Journal articles hal-03150306v1
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Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

Maxime Boutry , Alexandre Pierga , Raphaël Matusiak , Julien Branchu , Marc Houllegatte et al.
Communications Biology, 2019, 2, pp.380. ⟨10.1038/s42003-019-0615-z⟩
Journal articles hal-02342089v1
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo , Elisa Bettella , Paul Marcogliese , Rongjuan Zhao , Jonathan Andrews et al.
Nature Communications, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Journal articles hal-02336893v1
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

Jorge Diaz , Xavier Gérard , Michel-Boris Emerit , Julie Areias , David Geny et al.
Brain - A Journal of Neurology , 2020, 143 (10), pp.2911-2928. ⟨10.1093/brain/awaa235⟩
Journal articles hal-03002603v1
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Endocannabinoid Gene × Gene Interaction Association to Alcohol Use Disorder in Two Adolescent Cohorts

Laurent Elkrief , Sean Spinney , Daniel E Vosberg , Tobias Banaschewski , Arun L W Bokde et al.
Frontiers in Psychiatry, 2021, 12, pp.645746. ⟨10.3389/fpsyt.2021.645746⟩
Journal articles hal-03222526v1
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Short-Term Consumption of Sucralose with, but Not without, Carbohydrate Impairs Neural and Metabolic Sensitivity to Sugar in Humans

Jelle Dalenberg , Barkha Patel , Raphaël G. P. Denis , Maria Veldhuizen , Yuko Nakamura et al.
Cell Metabolism, 2020, 31 (3), pp.493-502.e7. ⟨10.1016/j.cmet.2020.01.014⟩
Journal articles hal-02552308v1

Community-Wide Assessment of Protein-Interface Modeling Suggests Improvements to Design Methodology.

Sarel J Fleishman , Timothy A Whitehead , Eva-Maria Strauch , Jacob E Corn , Sanbo Qin et al.
Journal of Molecular Biology, 2011, 414 (2), in press. ⟨10.1016/j.jmb.2011.09.031⟩
Journal articles inria-00637848v1
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Role of D3 dopamine receptors in modulating neuroanatomical changes in response to antipsychotic administration

Elisa Guma , Jill Rocchetti , Gabriel A Devenyi , Arnaud Tanti , Axel P Mathieu et al.
Scientific Reports, 2019, 9, pp.7850. ⟨10.1038/s41598-019-43955-4⟩
Journal articles hal-02143361v1

Common genetic variants influence human subcortical brain structures.

Derrek P Hibar , Jason L Stein , Miguel E Renteria , Alejandro Arias-Vasquez , Sylvane Desrivières et al.
Nature, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩
Journal articles hal-01196805v1
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Erin Rooney Riggs , Taylor Bingaman , Carrie-Ann Barry , Andrea Behlmann , Krista Bluske et al.
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Journal articles inserm-03816347v1
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Claire S. Leblond , Jutta Heinrich , Richard Delorme , Christian Proepper , Catalina Betancur et al.
PLoS Genetics, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
Journal articles inserm-00834560v1

Considerations on biologicals for patients with allergic disease in times of the COVID‐19 pandemic: An EAACI statement

Alessandra Vultaggio , Ioana Agache , Cezmi Akdis , Mubeccel Akdis , Sevim Bavbek et al.
Allergy, 2020, 75 (11), pp.2764-2774. ⟨10.1111/all.14407⟩
Journal articles hal-03598231v1
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A metabolic function of FGFR3-TACC3 gene fusions in cancer

Véronique Frattini , Stefano M Pagnotta , Dr Tala , Jerry J Fan , Marco V Russo et al.
Nature, 2018, 553 (7687), pp.222-227. ⟨10.1038/nature25171⟩
Journal articles hal-01975294v1
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Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

Elyza Kelly , Fantao Meng , Hirofumi Fujita , Felipe Morgado , Yasaman Kazemi et al.
Nature Neuroscience, 2020, 23 (9), pp.1102-1110. ⟨10.1038/s41593-020-0665-z⟩
Journal articles hal-03669754v1
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Toward personalization of asthma treatment according to trigger factors

Katarzyna Niespodziana , Kristina Borochova , Petra Pazderova , Thomas Schlederer , Natalia Astafyeva et al.
Journal of Allergy and Clinical Immunology, 2020, 145 (6), pp.1529-1534. ⟨10.1016/j.jaci.2020.02.001⟩
Journal articles hal-03536928v1

Community-wide evaluation of methods for predicting the effect of mutations on protein-protein interactions

Rocco Moretti , Sarel J Fleishman , Rudi Agius , Mieczyslaw Torchala , Paul A. Bates et al.
Proteins - Structure, Function and Bioinformatics, 2013, 81 (11), pp.1980 - 1987. ⟨10.1002/prot.24356⟩
Journal articles hal-00905794v1

RegulonDB version 9.0: high-level integration of gene regulation, coexpression, motif clustering and beyond

Socorro Gama-Castro , Heladia Salgado , Alberto Santos-Zavaleta , Daniela Ledezma-Tejeida , Luis Muniz-Rascado et al.
Nucleic Acids Research, 2016, 44 (D1), pp.D133-D143. ⟨10.1093/nar/gkv1156⟩
Journal articles hal-01460125v1
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

M Mercati , G Huguet , Anne Danckaert , L André-Leroux , Anna Maruani et al.
Molecular Psychiatry, 2017, 22 (4), pp.625 - 633. ⟨10.1038/mp.2016.61⟩
Journal articles pasteur-01516991v1

The Ehlers-Danlos syndromes, rare types

Angela F Brady , Serwet Demirdas , Sylvie Fournel-Gigleux , Neeti Ghali , Cecilia Giunta et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (1), pp.70-115. ⟨10.1002/ajmg.c.31550⟩
Journal articles hal-01709261v1
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Individual common variants exert weak effects on the risk for autism spectrum disorders.

Richard Anney , Lambertus Klei , Dalila Pinto , Joana Almeida , Elena Bacchelli et al.
Human Molecular Genetics, 2012, 21 (21), pp.4781-92. ⟨10.1093/hmg/dds301⟩
Journal articles inserm-00723650v1
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Jillian P Casey , Tiago Magalhaes , Judith Conroy , Regina Regan , Naisha Shah et al.
Human Genetics, 2012, 131 (4), pp.565-79. ⟨10.1007/s00439-011-1094-6⟩
Journal articles hal-01548905v1

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Thomas Arbogast , Parisa Razaz , Jacob Ellegood , Spencer Mckinstry , Serkan Erdin et al.
Human Molecular Genetics, 2019, 28 (9), pp.1474-1486. ⟨10.1093/hmg/ddy436⟩
Journal articles hal-03677812v1

Le rapport Stiglitz

Andrei Bougrov , Robert Johnson , Benno Ndulo , Pedro Paez , Avinash Persaud et al.
[Rapport de recherche] Editions les Liens qui Libèrent. 2010, pp.298
Reports hal-03569903v1
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Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes

Xiao-Qing Liu , Andrew Paterson , Peter Szatmari , Catalina Betancur
Biological Psychiatry, 2008, 64 (7), pp.561-570. ⟨10.1016/j.biopsych.2008.05.023⟩
Journal articles inserm-03135336v1

Neswsheets and periodicals :

Claire Boulard Jouslin , Alexis Lévrier , Raymond Joad , Weinbrot Howard , Conlin Jonathan et al.
26, 2014, Études Épistémè mis en ligne le 09 décembre 2014, Line Cottegnies ; Gisèle Venet
Books hal-01324542v1

Acute respiratory distress syndrome subphenotypes and therapy responsive traits among preclinical models: protocol for a systematic review and meta-analysis.

Adrien Carla , Bruno Pereira , Hanifa Boukail , Jules Audard , Nathalie Piñol-Domenech et al.
Respiratory Research, 2020, 21 (1), pp.81. ⟨10.1186/s12931-020-01337-9⟩
Journal articles hal-03023273v1
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Patrícia B. S. Celestino-Soper , Sara Violante , Emily L. Crawford , Rui Luo , Anath C. Lionel et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Journal articles inserm-00696112v1
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PhenoBlocks: Phenotype Comparison Visualizations

Michael Glueck , Peter Hamilton , Fanny Chevalier , Simon Breslav , Azam Khan et al.
IEEE Transactions on Visualization and Computer Graphics, 2015, 22 (1), pp.101-110. ⟨10.1109/TVCG.2015.2467733⟩
Journal articles hal-01226032v1