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Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Abdul Noor , Annabel Whibley , Christian Marshall , Peter Gianakopoulos , Amelie Piton , et al.
Science Translational Medicine, 2010, 2 (49), pp.49ra68-49ra68. ⟨10.1126/scitranslmed.3001267⟩
Journal articles inserm-03135307v1

The management of type 1 diabetes in adults. A consensus report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

Richard Holt , J. Hans Devries , Amy Hess-Fischl , Irl Hirsch , M. Sue Kirkman , et al.
Journal articles hal-03374407v1

Light Induction of a Vertebrate Clock Gene Involves Signaling through Blue-Light Receptors and MAP Kinases

Nicolas Cermakian , Matthew Pando , Carol Thompson , Anna Pinchak , Christopher Selby , et al.
Current Biology - CB, 2002, 12 (10), pp.844-848. ⟨10.1016/S0960-9822(02)00835-7⟩
Journal articles hal-04137065v1
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Critical challenges and emerging opportunities in hepatitis C virus research in an era of potent antiviral therapy: Considerations for scientists and funding agencies

Ralf Bartenschlager , Thomas F. Baumert , Jens Bukh , Michael Houghton , Stanley M. Lemon , et al.
Virus Research, 2018, 248, pp.53-62. ⟨10.1016/j.virusres.2018.02.016⟩
Journal articles hal-02460239v1
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Centromeric SMC1 promotes centromere clustering and stabilizes meiotic homolog pairing

Talia Hatkevich , Vincent Boudreau , Thomas Rubin , Paul S Maddox , Jean-René Huynh , et al.
PLoS Genetics, 2019, 15 (10), pp.e1008412. ⟨10.1371/journal.pgen.1008412⟩
Journal articles hal-04056505v1
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African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer

Roshan A. Karunamuni , Minh-Phuong Huynh-Le , Chun C Fan , W T Thompson , Rosalind A. Eeles , et al.
International Journal of Cancer, 2021, 148 (1), pp.99-105. ⟨10.1002/ijc.33282⟩
Journal articles hal-02964172v1

Positive association between congenital anomalies and risk of neuroblastoma.

Florence Menegaux , Andrew F. Olshan , Pamela J. Reitnauer , Julie Blatt , Susan L. Cohn
Pediatric Blood and Cancer, 2005, 45 (5), pp.649-55. ⟨10.1002/pbc.20263⟩
Journal articles istex inserm-00199015v1

Design, Synthesis, and Structure–Activity Relationship Studies of (4-Alkoxyphenyl)glycinamides and Bioisosteric 1,3,4-Oxadiazoles as GPR88 Agonists

Md Toufiqur Rahman , Ann Decker , Tiffany Langston , Kelly Mathews , Lucas Laudermilk , et al.
Journal of Medicinal Chemistry, 2020, 63 (23), pp.14989-15012. ⟨10.1021/acs.jmedchem.0c01581⟩
Journal articles hal-03383350v1
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Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.

Tuomas O. Kilpeläinen , Lu Qi , Soren Brage , Stephen J. Sharp , Emily Sonestedt , et al.
PLoS Medicine, 2011, 8 (11), pp.e1001116. ⟨10.1371/journal.pmed.1001116⟩
Journal articles inserm-00702827v1

Variability in the analysis of a single neuroimaging dataset by many teams

Rotem Botvinik-Nezer , Felix Holzmeister , Colin F Camerer , Anna Dreber , Juergen Huber , et al.
Nature, 2020, 582 (7810), pp.84-88. ⟨10.1038/s41586-020-2314-9⟩
Journal articles inserm-02914443v1

Evaluation of chirp reversal power modulation sequence for contrast agent imaging

Novell Anthony , Charles Sennoga , Jean-Michel Escoffre , Jennifer Chaline , Ayache Bouakaz
Physics in Medicine and Biology, 2014, 59 (17), pp.5101-5117. ⟨10.1088/0031-9155/59/17/5101⟩
Journal articles inserm-02438448v1
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Independently Tuning Elastomer Softness and Firmness by Incorporating Side Chain Mixtures into Bottlebrush Network Strands

Andrew Keith , Charles Clair , Abdelaziz Lallam , Egor Bersenev , Dimitri Ivanov , et al.
Macromolecules, 2020, 53 (21), pp.9306-9312. ⟨10.1021/acs.macromol.0c01725⟩
Journal articles hal-03095867v1

A Statistical Shape Model of Individual Fiber Tracts Extracted from Diffusion Tensor MRI

Isabelle Corouge , Sylvain Gouttard , Guido Gerig
Medical Image Computing and Computer-Assisted Intervention - MICCAI 2004, 2004, Saint-Malo, France. pp.671-679, ⟨10.1007/978-3-540-30136-3_82⟩
Conference papers inserm-00771247v1

Fiber tract-oriented statistics for quantitative diffusion tensor MRI analysis.

Isabelle Corouge , Thomas P. Fletcher , Sarang Joshi , Sylvain Gouttard , Guido Gerig
Medical Image Analysis, 2006, 10 (5), pp.786-98. ⟨10.1016/⟩
Journal articles inserm-00770970v1
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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

A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10.

Lionel A. Sanz , Stormy Chamberlain , Jean-Charles Sabourin , Amandine Henckel , Terry Magnuson , et al.
EMBO Journal, 2008, 27 (19), pp.2523-32. ⟨10.1038/emboj.2008.142⟩
Journal articles inserm-00349502v1
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Autism risk assessment in siblings of affected children using sex-specific genetic scores.

Jérôme Carayol , Gerard Schellenberg , Beth Dombroski , Emmanuelle Genin , Francis Rousseau , et al.
Molecular Autism, 2011, 2 (1), pp.17. ⟨10.1186/2040-2392-2-17⟩
Journal articles inserm-00641296v1
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Genome-wide association study of lung function decline in adults with and without asthma.

Medea Imboden , Emmanuelle Bouzigon , Ivan Curjuric , Adaikalavan Ramasamy , Ashish Kumar , et al.
Journal of Allergy and Clinical Immunology, 2012, 129 (5), pp.1218-28. ⟨10.1016/j.jaci.2012.01.074⟩
Journal articles inserm-00744741v1
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Analysis of the genome and transcriptome of [i]Cryptococcus neoformans[/i] var.[i] grubii[/i] reveals complex RNA expression and microevolution leading to virulence attenuation

Guilhem Janbon , Kate L. Ormerod , Damien Paulet , Edmond J. Byrnes , Vikas Yadav , et al.
PLoS Genetics, 2014, 10 (4), ⟨10.1371/journal.pgen.1004261⟩
Journal articles hal-01204377v1
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AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations

Rebecca J Darrah , Frank J Jacono , Neha Joshi , Anna L Mitchell , Abdus Sattar , et al.
Journal of Cystic Fibrosis, 2019, 18 (1), pp.127-134. ⟨10.1016/j.jcf.2018.05.013⟩
Journal articles hal-02041563v1
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A unified phylogeny-based nomenclature for histone variants

Paul Talbert , Kami Ahmad , Geneviève Almouzni , Juan Ausió , Frederic Berger , et al.
Epigenetics & Chromatin, 2012, 5 (1), pp.7. ⟨10.1186/1756-8935-5-7⟩
Journal articles inserm-00710902v1
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Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis

Sophie Couvé , Charline Ladroue , Elodie Laine , Karène Mahtouk , Justine Guégan , et al.
Cancer Research, 2014, 74 ((22)), pp.6554-64. ⟨10.1158/0008-5472.CAN-14-1161⟩
Journal articles inserm-01401701v1

Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes.

Lorenzo Galluzzi , Stuart A. Aaronson , John Abrams , Emad S Alnemri , David W. Andrews , et al.
Cell Death and Differentiation, 2009, 16 (8), pp.1093-107. ⟨10.1038/cdd.2009.44⟩
Journal articles inserm-00420382v1
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Bias in natriuretic peptide-guided heart failure trials: time to improve guideline adherence using alternative approaches

Susan Stienen , Ankeet Bhatt , Joao Pedro Ferreira , Muthiah Vaduganathan , James Januzzi , et al.
Heart Failure Reviews, 2020, 26 (1), pp.11-21. ⟨10.1007/s10741-020-10004-6⟩
Journal articles hal-02919808v1

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Benjamin D. Solomon , Kelly A. Bear , Adrian Wyllie , Amelia A. Keaton , Christele Dubourg , et al.
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal articles inserm-00718148v1

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Symen Ligthart , Ahmad Vaez , Urmo Võsa , Maria Stathopoulou , Paul de Vries , et al.
American Journal of Human Genetics, 2018, 103 (5), pp.691-706. ⟨10.1016/j.ajhg.2018.09.009⟩
Journal articles hal-02527859v1

AMP-activated protein kinase (AMPK) activity is not required for neuronal development but regulates axogenesis during metabolic stress

T. Williams , J. Courchet , B. Viollet , J. Brenman , F. Polleux
Proceedings of the National Academy of Sciences of the United States of America, 2011, 108 (14), pp.5849-5854. ⟨10.1073/pnas.1013660108⟩
Journal articles hal-02547165v1
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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

PAR2-dependent activation of GSK3 beta regulates the survival of colon stem/progenitor cells

Imen Nasri , Delphine Bonnet , Bailey Zwarycz , Emilie d'Aldebert , Sokchea Khou , et al.
AJP - Gastrointestinal and Liver Physiology, 2016, 311 (2), pp.G221 - G236. ⟨10.1152/ajpgi.00328.2015⟩
Journal articles hal-01605007v1

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Florence Demenais , Patricia Margaritte-Jeannin , Kathleen Barnes , William O. C. M. Cookson , Janine Altmüller , et al.
Nature Genetics, 2018, 50 (1), pp.42-53. ⟨10.1038/s41588-017-0014-7⟩
Journal articles inserm-02874534v1