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Interaction between Hormone-Sensitive Lipase and ChREBP in Fat Cells Controls Insulin Sensitivity

Pauline Morigny , Marianne Houssier , Aline Mairal , Claire Ghilain , Etienne Mouisel , et al.
Nature Metabolism, 2019, 1 (1), pp.133-146. ⟨10.1038/s42255-018-0007-6⟩
Journal articles inserm-02150261v1
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Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

Kevin Yauy , Anouck Schneider , Bee Ling Ng , Jean-Baptiste Gaillard , Satish Sati , et al.
BMC Medical Genomics, 2019, 12 (1), pp.116. ⟨10.1186/s12920-019-0558-8⟩
Journal articles inserm-02305613v1
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Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis

Stephan Collins , Anna Mikhaleva , Katarina Vrcelj , Valerie Vancollie , Christel Wagner , et al.
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-11431-2⟩
Journal articles hal-02396037v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova , et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1
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Large scale variation in DNA copy number in chicken breeds.

Richard Crooijmans , Mark Fife , Tomas Fitzgerald , Shurnevia Strickland , Hans Cheng , et al.
BMC Genomics, 2013, 14 (1), pp.398. ⟨10.1186/1471-2164-14-398⟩
Journal articles inserm-00868020v1
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Slc20a2 , Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength

Sarah Beck‐cormier , Christopher J. Lelliott , John Logan , David Lafont , Laure Merametdjian , et al.
Journal of Bone and Mineral Research, 2019, 34 (6), pp.1101-1114/e3691. ⟨10.1002/jbmr.3691⟩
Journal articles hal-02333779v1
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Pathogenomic analyses of Mycobacterium microti, an ESX-1-deleted member of the Mycobacterium tuberculosis complex causing disease in various hosts

Mickael Orgeur , Wafa Frigui , Alexandre Pawlik , Simon Clark , Ann Williams , et al.
Microbial Genomics, 2021, 7 (2), ⟨10.1099/mgen.0.000505⟩
Journal articles pasteur-03255655v1
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Phosphorylation-Dependent Assembly of a 14-3-3 Mediated Signaling Complex during Red Blood Cell Invasion by Plasmodium falciparum Merozoites

Kunal R. More , Inderjeet Kaur , Quentin Giai Gianetto , Brandon Invergo , Thibault Chaze , et al.
mBio, 2020, 11 (4), pp.e01287-20. ⟨10.1128/mBio.01287-20⟩
Journal articles pasteur-03070670v1
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Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Francesco Maura , Niccolo Bolli , Nicos Angelopoulos , Kevin J Dawson , Daniel Leongamornlert , et al.
Nature Communications, 2019, 10 (1), pp.3835. ⟨10.1038/s41467-019-11680-1⟩
Journal articles inserm-02290176v1
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Single Nucleotide Polymorphisms with Cis-Regulatory Effects on Long Non-Coding Transcripts in Human Primary Monocytes

Jonas Carlsson Almlöf , Per Lundmark , Anders Lundmark , Bing Ge , Tomi Pastinen , et al.
PLoS ONE, 2014, 9 (7), pp.e102612. ⟨10.1371/journal.pone.0102612⟩
Journal articles hal-01344523v1

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age

Joris Deelen , Marian Beekman , Hae-Won Uh , Linda Broer , Kristin L Ayers , et al.
Human Molecular Genetics, 2014, 23 (16), pp.4420-32. ⟨10.1093/hmg/ddu139⟩
Journal articles hal-02638826v1
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Ascl1 Coordinately Regulates Gene Expression and the Chromatin Landscape during Neurogenesis

Alexandre a.S.F. Raposo , Francisca f. Vasconcelos , Daniela Drechsel , Corentine Marie , Caroline Johnston , et al.
Cell Reports, 2015, 10 (9), pp.1544-1556. ⟨10.1016/j.celrep.2015.02.025⟩
Journal articles hal-01213854v1
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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

Anna R Duncan , Antonio Vitobello , Stephan C Collins , Valerie E Vancollie , Christopher J Lelliott , et al.
American Journal of Human Genetics, 2020, 107, pp.1170 - 1177. ⟨10.1016/j.ajhg.2020.11.001⟩
Journal articles inserm-03948582v1
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Slc20a2 , encoding the phosphate transporter PiT2, is an important genetic determinant of bone quality and strength

Sarah Beck‐cormier , Christopher J. Lelliott , John Logan , David Lafont , Laure Merametdjian , et al.
Journal of Bone and Mineral Research, 2019, Epub ahead of print. ⟨10.1002/jbmr.3691⟩
Journal articles inserm-02010963v1
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SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination

Estelle Vincendeau , Wenming Wei , Xuefei Zhang , Cyril Planchais , Wei Yu , et al.
Nature Communications, 2022, 13 (1), pp.3707. ⟨10.1038/s41467-022-31287-3⟩
Journal articles pasteur-04120567v1
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The BioMart community portal: an innovative alternative to large, centralized data repositories

Damian Smedley , Syed Haider , Steffen Durinck , Luca Pandini , Paolo Provero , et al.
Nucleic Acids Research, 2015, 43 (W1), pp.W589-W598. ⟨10.1093/nar/gkv350⟩
Journal articles hal-01146849v1

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

Amélie Bonnefond , Nathalie Clement , Katherine Fawcett , Loïc Yengo , Emmanuel Vaillant , et al.
Nature Genetics, 2012, 44 (3), pp.297 - U98. ⟨10.1038/ng.1053⟩
Journal articles hal-02647940v1
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Revealing the Impact of Structural Variants in Multiple Myeloma

Even Rustad , Venkata Yellapantula , Dominik Glodzik , Kylee Maclachlan , Benjamin Diamond , et al.
Blood Cancer Discovery, 2020, 1 (3), pp.258-273. ⟨10.1158/2643-3230.BCD-20-0132⟩
Journal articles inserm-03498917v1
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Novel antigen-presenting cell imparts Treg-dependent tolerance to gut microbiota

Blossom Akagbosu , Zakieh Tayyebi , Gayathri Shibu , Yoselin Paucar Iza , Deeksha Deep , et al.
Nature, 2022, 610 (7933), pp.752-760. ⟨10.1038/s41586-022-05309-5⟩
Journal articles hal-04017246v1

Adaptive Changes of the Insig1/SREBP1/SCD1 Set Point Help Adipose Tissue to Cope With Increased Storage Demands of Obesity

Stefania Carobbio , Rachel M. Hagen , Christopher J. Lelliott , Marc Slawik , Gema Medina-Gomez , et al.
Diabetes, 2013, 62 (11), pp.3697 - 3708. ⟨10.2337/db12-1748⟩
Journal articles hal-02644218v1
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A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma

Niccolò Bolli , Yan-Fu Li , S Sathiaseelan , Keiran Martin Raine , Wendy D Jones , et al.
Blood Cancer Journal, 2016, 6 ((9)), pp.e467. ⟨10.1038/bcj.2016.72⟩
Journal articles inserm-01382540v1
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Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Jingtao Lilue , Anthony G. Doran , Ian T. Fiddes , Monica Abrudan , Joel Armstrong , et al.
Nature Genetics, 2018, 50 (11), pp.1574-1583. ⟨10.1038/s41588-018-0223-8⟩
Journal articles hal-03448286v1

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
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A framework for an evidence-based gene list relevant to autism spectrum disorder

Christian Schaaf , Catalina Betancur , Ryan Yuen , Jeremy Parr , David Skuse , et al.
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Journal articles inserm-03133319v1
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Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration

Marcel Smid , F. Germán Rodríguez-González , Anieta M. Sieuwerts , Roberto Salgado , Wendy J. C. Prager-van Der Smissen , et al.
Nature Communications, 2016, 7, ⟨10.1038/ncomms12910⟩
Journal articles hal-01388445v1
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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Borislav Dejanovic , Tania Djemie , N. Grünewald , Arvid Suls , Vanessa Kress , et al.
EMBO Molecular Medicine, 2015, 7, pp.1580-1594. ⟨10.15252/emmm.201505323⟩
Journal articles hal-01236147v2
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Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups

Niccolò Bolli , Giulia Biancon , Matahi Moarii , Silvia Gimondi , Yilong Li , et al.
Leukemia, 2017, Epub ahead of print. ⟨10.1038/leu.2017.344⟩
Journal articles inserm-01808859v1
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

Anna Swan , Christine Schütt , Jan Rozman , Maria del Mar Muñiz Moreno , Stefan Brandmaier , et al.
PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
Journal articles hal-03433523v1
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Genetic surveillance in the Greater Mekong subregion and South Asia to support malaria control and elimination

Christopher G Jacob , Nguyen Thuy-Nhien , Mayfong Mayxay , Richard J Maude , Huynh Hong Quang , et al.
eLife, 2021, 10, pp.e62997. ⟨10.7554/elife.62997⟩
Journal articles inserm-03451958v1
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Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

Agatha van Der Klaauw , Sophie Croizier , Edson Mendes de Oliveira , Lukas K.J. Stadler , Soyoung Park , et al.
Cell, 2019, 176 (4), pp.729-742.e18. ⟨10.1016/j.cell.2018.12.009⟩
Journal articles hal-02375383v1