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European interdisciplinary guideline on invasive squamous cell carcinoma of the skin: Part 1. epidemiology, diagnostics and prevention

Alexander John Stratigos , Claus Garbe , Clio Dessinioti , Célèste Lebbe , Véronique Bataille , et al.
European Journal of Cancer, 2020, 128, pp.60-82. ⟨10.1016/j.ejca.2020.01.007⟩
Journal articles hal-03228150v1

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Evangelos Andreakos , Laurent Abel , Donald Vinh , Elżbieta Kaja , Beth Drolet , et al.
Nature Immunology, 2022, 23 (2), pp.159-164. ⟨10.1038/s41590-021-01030-z⟩
Journal articles hal-03558195v1
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Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Tomer Illouz , Arya Biragyn , Maria Florencia Iulita , Lisi Flores-Aguilar , Mara Dierssen , et al.
Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.621440⟩
Journal articles hal-03285772v1
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Antonis Antoniou , Karoline Kuchenbaecker , Penny Soucy , Jonathan Beesley , Xiaoqing Chen , et al.
Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩
Journal articles inserm-00681614v1

Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.

Ester Ballana , Jing Wang , Frédéric Venail , Xavier Estivill , Jean-Luc Puel , et al.
Neuroscience Letters, 2008, 442 (2), pp.134-9. ⟨10.1016/j.neulet.2008.06.060⟩
Journal articles istex inserm-00349471v1
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In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children

Marta Vives-Usano , Carles Hernandez-Ferrer , Léa Maitre , Carlos Ruiz-Arenas , Sandra Andrusaityte , et al.
BMC Medicine, 2020, 18 (1), pp.243. ⟨10.1186/s12916-020-01686-8⟩
Journal articles inserm-03176787v1
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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

María del Carmen Ortuño-Costela , Victoria Cerrada , Ana Moreno-Izquierdo , Inés García-Consuegra , Camille Laberthonnière , et al.
International Journal of Molecular Sciences, 2022, 23 (22), pp.13964. ⟨10.3390/ijms232213964⟩
Journal articles hal-04039822v1
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Diagnostic workup of childhood interstitial lung disease

Nadia Nathan , Matthias Griese , Katarzyna Michel , Julia Carlens , Carlee Gilbert , et al.
European Respiratory Review, 2023, 32 (167), pp.220188. ⟨10.1183/16000617.0188-2022⟩
Journal articles inserm-04016668v1
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The Transcription Factor Encyclopedia.

Dimas Yusuf , Stefanie Butland , Magdalena Swanson , Eugene Bolotin , Amy Ticoll , et al.
Genome Biology, 2012, 13 (3), pp.R24. ⟨10.1186/gb-2012-13-3-r24⟩
Journal articles inserm-00716041v1
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Christopher A. Maxwell , Javier Benítez , Laia Gómez-Baldó , Ana Osorio , Núria Bonifaci , et al.
PLoS Biology, 2011, 9 (11), pp.e1001199. ⟨10.1371/journal.pbio.1001199⟩
Journal articles inserm-00706872v1
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Absence of p.R50X Pygm read-through in McArdle disease cellular models

Guillermo Tarrasó , Alberto Real-Martinez , Marta Parés , Lídia Romero-Cortadellas , Laura Puigros , et al.
Disease Models & Mechanisms, 2020, 13 (1), pp.dmm043281. ⟨10.1242/dmm.043281⟩
Journal articles hal-02492150v1
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Fostering Responsible Research with Genome Editing Technologies: a European Perspective

Hervé Chneiweiss , Francois Hirsch , Lluis Montoliu , Albrecht A Müller , Solveig Fenet , et al.
Transgenic Research, 2017, 26, pp.709-713. ⟨10.1007/s11248-017-0028-z⟩
Journal articles inserm-01586239v1
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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Sonia Pavan , Kathrin Rommel , María Elena Mateo Marquina , Sophie Höhn , Valérie Lanneau , et al.
PLoS ONE, 2017, 12 (1), pp.e0170365. ⟨10.1371/journal.pone.0170365⟩
Journal articles inserm-04045424v1
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A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

Neijla Erkilic , Vincent Gatinois , Simona Torriano , Pauline Bouret , Carla Sanjurjo-Soriano , et al.
Cells, 2019, 8 (9), pp.1068. ⟨10.3390/cells8091068⟩
Journal articles hal-02560222v1
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Variability of multi-omics profiles in a population-based child cohort

Marta Gallego-Paüls , Carles Hernández-Ferrer , Mariona Bustamante , Xavier Basagaña , Jose Barrera-Gómez , et al.
BMC Medicine, 2021, 19 (1), pp.166. ⟨10.1186/s12916-021-02027-z⟩
Journal articles inserm-03312491v1

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Christina Eichstaedt , Catharina Belge , Wendy Chung , Stefan Gräf , Ekkehard Grünig , et al.
European Respiratory Journal, 2023, 61 (2), pp.2201471. ⟨10.1183/13993003.01471-2022⟩
Journal articles hal-04050715v1
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Elaine Lim , Mohammed Uddin , Silvia de Rubeis , Yingleong Chan , Anne Kamumbu , et al.
Nature Neuroscience, 2017, 20 (9), pp.1217-1224. ⟨10.1038/nn.4598⟩
Journal articles inserm-03135341v1
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Data-Based Radiation Oncology: Design of Clinical Trials in the Toxicity Biomarkers Era

David Azria , Ariane Lapierre , Sophie Gourgou , Dirk de Ruysscher , Jacques Colinge , et al.
Frontiers in Oncology, 2017, 7, ⟨10.3389/fonc.2017.00083⟩
Journal articles hal-02294898v1
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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Ceres Fernández-Rozadilla , Miriam Alvarez-Barona , Esther Schamschula , Sahra Bodo , Anael Lopez-Novo , et al.
Cancers, 2019, 11 (8), pp.1081. ⟨10.3390/cancers11081081⟩
Journal articles hal-02294122v1
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Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Marco Matejcic , Edward J Saunders , Tokhir Dadaev , Mark N Brook , Kan Wang , et al.
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-06863-1⟩
Journal articles hal-01924689v1
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Anne-Sophie Denommé-Pichon , Stephan C Collins , Ange-Line Bruel , Anna Mikhaleva , Christel Wagner , et al.
Genetics in Medicine, 2023, pp.100835. ⟨10.1016/j.gim.2023.100835⟩
Journal articles inserm-04094776v1
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel Barnes , Matti Rookus , Lesley Mcguffog , Goska Leslie , Thea Mooij , et al.
Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Journal articles inserm-03193473v1

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Guillaume Olivier , Marta Corton , Daniela Intartaglia , Sanne Verbakel , Panagiotis Sergouniotis , et al.
Journal of Medical Genetics, 2021, 58 (8), pp.570-578. ⟨10.1136/jmedgenet-2020-107150⟩
Journal articles hal-03652615v1
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Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data.

Gaëlle Marenne , Francisco Real , Nathaniel Rothman , Benjamin Rodríguez-Santiago , Luis Pérez-Jurado , et al.
BMC Genomics, 2012, 13 (1), pp.326. ⟨10.1186/1471-2164-13-326⟩
Journal articles inserm-00724696v1
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Multivariate classification of Brugada syndrome patients based on autonomic response to exercise testing

Mireia Calvo , Daniel Romero , Virginie Le Rolle , Nathalie Behar , Pedro Gomis , et al.
PLoS ONE, 2018, 13 (5), pp.e0197367. ⟨10.1371/journal.pone.0197367⟩
Journal articles hal-01807122v1
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Human Early Life Exposome (HELIX) study : a European population-based exposome cohort

Léa Maitre , Jeroen de Bont , Maribel Casas , Olivier Robinson , Gunn Marit Aasvang , et al.
BMJ Open, 2018, 8, pp.e021311. ⟨10.1136/bmjopen-2017-021311⟩
Journal articles ineris-03319120v1

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

Agustí Rodríguez-Palmero , Agatha Schlüter , Edgard Verdura , Montserrat Ruiz , Juan José Martínez , et al.
Annals of Clinical and Translational Neurology, 2020, 7 (9), pp.1574-1579. ⟨10.1002/acn3.51131⟩
Journal articles hal-03734527v1

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis

Leandro Ladislau , Xavier Suárez-Calvet , Ségolène Toquet , Océane Landon-Cardinal , Damien Amelin , et al.
Brain - A Journal of Neurology , 2018, 141 (6), pp.1609 - 1621. ⟨10.1093/brain/awy105⟩
Journal articles pasteur-01819244v1
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MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma

Lisa Kinget , Eduard Roussel , Annelies Verbiest , Maarten Albersen , Cristina Rodríguez-Antona , et al.
Cancers, 2021, 13 (12), pp.3099. ⟨10.3390/cancers13123099⟩
Journal articles hal-03278519v1
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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

David Gómez-Andrés , Jordi Diaz-Manera , Aida Alejaldre , Irene Pulido-Valdeolivas , Laura González-Mera , et al.
Muscle & nerve. Supplement., 2018, 58 (6), pp.812-817. ⟨10.1002/mus.26312⟩
Journal articles hal-02297512v1