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Hétérogénéité des ascendances mésolithiques et steppiques dans des génomes d’individus du Néolithique et du Campaniforme du territoire français

Andaine Seguin-Orlando , Richard Donat , Clio Der Sarkissian , John Southon , Catherine Thèves et al.
Journées de la Société d'Anthropologie de Paris, Jan 2021, Paris, France. https://journals.openedition.org/bmsap/7187
Conference papers hal-03677512v1
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Post-transcriptional regulation of Leishmania fitness gain

Laura Piel , K. Shanmugha Rajan , Giovanni Bussotti , Hugo Varet , Rachel Legendre et al.
2021
Preprints, Working Papers, ... pasteur-03210825v1
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Excessive self-grooming of $Shank3$ mutant mice is associated with gene dysregulation and imbalance between the striosome and matrix compartments in the striatum

Allain-Thibeault Ferhat , Anne Biton , Elisabeth Verpy , Benoit Forget , Fabrice de Chaumont et al.
2022
Preprints, Working Papers, ... hal-03803866v1

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Loïc Couloigner , Marc Planes , Chandran Ka , Séverine Audebert-Bellanger , Sylvia Redon et al.
Clinical Genetics, 2022, ⟨10.1111/cge.14270⟩
Journal articles hal-03930818v1
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard , Lindsey B. Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann et al.
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Journal articles pasteur-02958871v1
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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Youmna Ghaleb , Sandy Elbitar , Anne Philippi , Petra El Khoury , Yara Azar et al.
Metabolites, 2022, 12 (3), pp.262. ⟨10.3390/metabo12030262⟩
Journal articles hal-03642664v1
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The Importance Of Naturally Attenuated Sars-Cov-2 In The Fight Against Covid-19

J. Armengaud , Agnès Delaunay-Moisan , Jean-Yves Thuret , Eelco Van Anken , Diego Acosta-Alvear et al.
Environmental Microbiology, 2020, 22 (6), pp.1997-2000. ⟨10.1111/1462-2920.15039⟩
Journal articles hal-02571406v1
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Role of DNA Repair Variants and Diagnostic Radiology Exams in Differentiated Thyroid Cancer Risk: A Pooled Analysis of Two Case–Control Studies

Monia Zidane , Thérèse Truong , Fabienne Lesueur , Constance Xhaard , Emilie Cordina-Duverger et al.
Cancer Epidemiology, Biomarkers and Prevention, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩
Journal articles hal-03378112v1
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DNA methylation changes in metabolic and immune-regulatory pathways in blood and lymph node CD4 + T cells in response to SIV infections

Simon P. Jochems , Beatrice Jacquelin , Nicolas Tchitchek , Florence Busato , Fabien Pichon et al.
Clinical Epigenetics, 2020, 12 (1), pp.188. ⟨10.1186/s13148-020-00971-w⟩
Journal articles hal-03225306v1
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African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations

Harilanto Razafindrazaka , Veronica Pereda-Loth , Camille Ferdenzi , Margit Heiske , Omar Alva et al.
Brain Sciences, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Journal articles hal-03432438v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

C Binquet , Catherine Lejeune , Laurence Faivre , Marion Bouctot , Marie-Laure Asensio et al.
Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩
Journal articles hal-03610031v1

Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures

Laetitia Dubouchet , Helena Todorov , Ruth Seurinck , Nicolas Vallet , Sofie van Gassen et al.
Science Translational Medicine, 2022, 14 (633), ⟨10.1126/scitranslmed.abg3083⟩
Journal articles hal-03599282v1

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Alban Ziegler , Katharina Steindl , Ashleigh Hanner , Rajesh Kumar Kar , Clément Prouteau et al.
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
Journal articles hal-03861090v1

Identification of biological pathways specific to phases preceding rheumatoid arthritis development through gene expression profiling

Cyril Dalmasso , Céline Derbois , Maeva Veyssière , Robert Olaso , Céline Lamacchia et al.
International Journal of Immunogenetics, 2021, ⟨10.1111/iji.12528⟩
Journal articles hal-03120585v1
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

Estelle Colin , Yannis Duffourd , Emilie Tisserant , Raissa Relator , Ange-Line Bruel et al.
Frontiers in Cell and Developmental Biology, 2022, 10, pp.1021785. ⟨10.3389/fcell.2022.1021785⟩
Journal articles hal-03886419v1
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Hypomethylated poplars show higher tolerance to water deficit and highlight a dual role for DNA methylation in shoot meristem: regulation of stress response and genome integrity

M.D. D Sow , A-L Le Gac , R. Fichot , S. Lanciano , A. Delaunay et al.
2021
Preprints, Working Papers, ... hal-03239719v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal articles hal-03619568v1
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Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint

Fabian Karow , Biljana Smiljanovic , J. R. Grün , Denis Poddubnyy , Fabian Proft et al.
Arthritis Research and Therapy, 2021, 23, pp.246. ⟨10.1186/s13075-021-02623-7⟩
Journal articles hal-03487777v1
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La propriété des données génétiques

Henri-Corto Stoeklé , Ninon Forster , Mauro Turrini , Philippe Charlier , Christian Hervé et al.
médecine/sciences, 2018, 34 (12), pp.1100-1104. ⟨10.1051/medsci/2018291⟩
Journal articles cea-02291346v1

Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors

Christopher Fitzpatrick , Maximiliano Bendek , Macarena Briones , Nicole Farfán , Valeria Silva et al.
Cell Death and Disease, 2019, 10 (6), ⟨10.1038/s41419-019-1649-3⟩
Journal articles hal-02862321v1

Methylation of imprinted IGF2 regions is associated with total, visceral, and hepatic adiposity in postmenopausal women

Min-Ae Song , Thomas Ernst , Maarit Tiirikainen , Jorg Tost , Lynne R. Wilkens et al.
Epigenetics, 2018, 13 (8), pp.858-865. ⟨10.1080/15592294.2018.1518100⟩
Journal articles cea-02291365v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Catherine Lejeune , Charley Robert-Viard , Nicolas Meunier-Beillard , Myriam Alice Borel , Léna Gourvès et al.
Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Journal articles hal-03678712v1
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Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites

Antoine Daunay , Lise Hardy , Yosra Bouyacoub , Mourad Sahbatou , Mathilde Touvier et al.
Aging, 2022, 14 (19), pp.7718-7733. ⟨10.18632/aging.204316⟩
Journal articles hal-03875194v1
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Genomic insights into population history and biological adaptation in Oceania

Jeremy Choin , Javier Mendoza-Revilla , Lara R Arauna , Sebastian Cuadros-Espinoza , Olivier Cassar et al.
Nature, 2021, 592 (7855), pp.583-589. ⟨10.1038/s41586-021-03236-5⟩
Journal articles pasteur-03205291v1
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

J. C. Bis , X. Jian , B. W. Kunkle , Y. Chen , K. L. Hamilton-Nelson et al.
Molecular Psychiatry, 2018, 25 (8), pp.1859-1875. ⟨10.1038/s41380-018-0112-7⟩
Journal articles hal-03177410v1
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Prediction of Breast Cancer Treatment\textendashInduced Fatigue by Machine Learning Using Genome-Wide Association Data

Sangkyu Lee , Joseph O Deasy , Jung Hun Oh , Antonio Di Meglio , Agnès Dumas et al.
JNCI Cancer Spectrum, 2020, 4 (5), pkaa039. ⟨10.1093/jncics/pkaa039⟩
Journal articles hal-03833310v1

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Denisa Hathazi , Daniel Cox , Adele d'Amico , Giorgio Tasca , Richard Charlton et al.
Brain - A Journal of Neurology , 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Journal articles hal-03401813v1
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PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment

Luca Kleineidam , Vincent Chouraki , Tomasz Próchnicki , Sven J. van Der Lee , Laura Madrid‑márquez et al.
Acta Neuropathologica, 2020, 139 (6), pp.1025-1044. ⟨10.1007/s00401-020-02138-6⟩
Journal articles hal-03150932v1
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

E. Szenker-Ravi , T. Ott , M. Khatoo , A. M. De Bellaing , W. X. Goh et al.
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Journal articles inserm-03752860v1
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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

Ozvan Bocher , Thomas E. Ludwig , Marie-Sophie Oglobinsky , Gaelle Marenne , Jean-Francois Deleuze et al.
PLoS Genetics, 2022, 18 (9), ⟨10.1371/journal.pgen.1009923⟩
Journal articles hal-03834899v1