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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.
Journal articles
inserm-03290535v1
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A compendium answering 150 questions on COVID‐19 and SARS‐CoV‐2
Carmen Riggioni
,
Pasquale Comberiati
,
Mattia Giovannini
,
Ioana Agache
,
Mübeccel Akdis
et al.
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.
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.
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.
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.
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.
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
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Barkha Patel
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Raphaël G. P. Denis
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Maria Veldhuizen
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Yuko Nakamura
et al.
Journal articles
hal-02552308v1
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Community-Wide Assessment of Protein-Interface Modeling Suggests Improvements to Design Methodology.
Sarel J Fleishman
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Timothy A Whitehead
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Eva-Maria Strauch
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Jacob E Corn
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Sanbo Qin
et al.
Journal articles
inria-00637848v1
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Role of D3 dopamine receptors in modulating neuroanatomical changes in response to antipsychotic administration
Elisa Guma
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Jill Rocchetti
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Gabriel A Devenyi
,
Arnaud Tanti
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Axel P Mathieu
et al.
Journal articles
hal-02143361v1
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Common genetic variants influence human subcortical brain structures.
Derrek P Hibar
,
Jason L Stein
,
Miguel E Renteria
,
Alejandro Arias-Vasquez
,
Sylvane Desrivières
et al.
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.
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.
Journal articles
inserm-00834560v1
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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.
Journal articles
hal-03598231v1
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A metabolic function of FGFR3-TACC3 gene fusions in cancer
Véronique Frattini
,
Stefano M Pagnotta
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Dr Tala
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Jerry J Fan
,
Marco V Russo
et al.
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.
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 articles
hal-03536928v1
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Community-wide evaluation of methods for predicting the effect of mutations on protein-protein interactions
Rocco Moretti
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Sarel J Fleishman
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Rudi Agius
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Mieczyslaw Torchala
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Paul A. Bates
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Proteins - Structure, Function and Bioinformatics, 2013, 81 (11), pp.1980 - 1987. ⟨10.1002/prot.24356⟩
Journal articles
hal-00905794v1
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RegulonDB version 9.0: high-level integration of gene regulation, coexpression, motif clustering and beyond
Socorro Gama-Castro
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Heladia Salgado
,
Alberto Santos-Zavaleta
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Daniela Ledezma-Tejeida
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Luis Muniz-Rascado
et al.
Journal articles
hal-01460125v1
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
M Mercati
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G Huguet
,
Anne Danckaert
,
L André-Leroux
,
Anna Maruani
et al.
Journal articles
pasteur-01516991v1
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The Ehlers-Danlos syndromes, rare types
Angela F Brady
,
Serwet Demirdas
,
Sylvie Fournel-Gigleux
,
Neeti Ghali
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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.
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.
Journal articles
hal-01548905v1
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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.
Journal articles
hal-03677812v1
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Le rapport Stiglitz
Andrei Bougrov
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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
Journal articles
inserm-03135336v1
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Neswsheets and periodicals :
Claire Boulard Jouslin
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Alexis Lévrier
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Raymond Joad
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Weinbrot Howard
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Conlin Jonathan
et al.
26, 2014, Études Épistémè mis en ligne le 09 décembre 2014, Line Cottegnies ; Gisèle Venet
Books
hal-01324542v1
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Acute respiratory distress syndrome subphenotypes and therapy responsive traits among preclinical models: protocol for a systematic review and meta-analysis.
Adrien Carla
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Bruno Pereira
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Hanifa Boukail
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Jules Audard
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Nathalie Piñol-Domenech
et al.
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
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Sara Violante
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Emily L. Crawford
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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.
Journal articles
hal-01226032v1
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