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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Antonio Rausell
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Yufei Luo
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Marie Lopez
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Yoann Seeleuthner
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Franck Rapaport
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Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
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hal-03020429v1
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Analysis of IL28B Variants in an Egyptian Population Defines the 20 Kilobases Minimal Region Involved in Spontaneous Clearance of Hepatitis C Virus
Vincent Pedergnana
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Mohamed Abdel-Hamid
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Julien Guergnon
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Amira Mohsen
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Lénaïg Le Fouler
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hal-03684772v1
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An in vitro diagnostic certified point of care single nucleotide test for IL28B polymorphisms
Darragh Duffy
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Estelle Mottez
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Shaun Ainsworth
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Tan-Phuc Buivan
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Aurelie Baudin
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pasteur-01609237v1
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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion
Carolyn Jackson
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Alain Lefèvre-Utile
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Anne Guimier
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Valérie Malan
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Julie Bruneau
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pasteur-03208057v1
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Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Stéphanie Boisson-Dupuis
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Noe Ramirez-Alejo
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Zhi Li
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Etienne Patin
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Geetha Rao
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pasteur-02070591v1
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Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population.
Nathanael Lapidus
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Xavier de Lamballerie
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Nicolas Salez
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Michel Setbon
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Rosemary M Delabre
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Journal articles
hal-01122215v1
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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
Minji Byun
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Cindy S. Ma
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Arzu Akçay
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Vincent Pedergnana
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Umaimainthan Palendira
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et al.
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pasteur-01370948v1
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Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
Ruben Martinez-Barricarte
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Janet Markle
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Cindy Ma
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Elissa K Deenick
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Noe Ramirez-Alejo
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hal-02352927v1
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COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study
Sheryl Ann Abdukahil
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Ali Ait Hssain
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Younes Ait Tamlihat
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Kazali Enagnon Alidjnou
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Carlos Alexandre Antunes de Brito
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hal-03273644v1
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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
Xiao-Fei Kong
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Lisa Worley
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Darawan Rinchai
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Vincent Bondet
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Puthen Veettil Jithesh
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pasteur-02900826v1
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Paul Bastard
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Lindsey B. Rosen
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Qian Zhang
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Eleftherios Michailidis
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Hans-Heinrich Hoffmann
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pasteur-02958871v1
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Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection
Fanny Lanternier
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Elisa Barbati
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Ulrich Meinzer
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Luyan Liu
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Vincent Pedergnana
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Journal articles
hal-02634252v1
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Trichodysplasia spinulosa polyomavirus infection occurs during early childhood with intra-familial transmission, especially from mother to child
Vincent Pedergnana
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Claire Martel-Jantin
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Jérôme Nicol
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Valérie Leblond
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Patricia Tortevoye
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hal-01445454v1
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Single-Cell and Bulk RNA-Sequencing Reveal Differences in Monocyte Susceptibility to Influenza A Virus Infection Between Africans and Europeans
Mary B O’neill
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Hélène Quach
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Julien Pothlichet
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Yann Aquino
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Aurélie Bisiaux
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hal-03499159v1
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Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds.
Gürses Sahin
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Ayse Palanduz
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Gonul Aydogan
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Olivier Cassar
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A. Ulya Ertem
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pasteur-00460460v1
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Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
Fanny Lanternier
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Seyed Alireza Mahdaviani
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Elisa Barbati
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Hélène Chaussade
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Yatrika Koumar
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hal-01936359v1
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Causal analysis of H1N1pdm09 influenza infection risk in a household cohort
Yohann Mansiaux
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Nicolas Salez
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Nathanaël Lapidus
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Michel Setbon
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Laurent Andreoletti
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hal-03118834v1
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The value of open-source clinical science in pandemic response: lessons from ISARIC [Comment]
Ali Abbas
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Sheryl Ann Abdukahil
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Nurul Najmee Abdulkadir
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Ryuzo Abe
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Laurent Abel
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pasteur-04098113v1
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High-risk exposure without personal protective equipment and infection with SARS-CoV-2 in-hospital workers - The CoV-CONTACT cohort
Sarah Tubiana
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Charles Burdet
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Nadhira Houhou
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Michael Thy
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Pauline Manchon
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hal-03439333v1
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Integrated analysis of whole blood oxylipin and cytokine responses after bacterial, viral, and T cell stimulation reveals new immune networks
Etienne Villain
,
Aurélie Chanson
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Malwina Mainka
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Nadja Kampschulte
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Pauline Le Faouder
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pasteur-04186166v1
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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Vivien Beziat
,
Juan Li
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Jian-Xin Lin
,
Cindy Ma
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Peng Li
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Journal articles
hal-02392068v1
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Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
Paul Verdu
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Luis Barreiro
,
Etienne Patin
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Antoine Gessain
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Olivier Cassar
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Journal articles
hal-02271444v1
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Merkel cell polyomavirus infection occurs during early childhood and is transmitted between siblings
Claire Martel-Jantin
,
Vincent Pedergnana
,
Jérôme Nicol
,
Valérie Leblond
,
David-Alexandre Tregouet
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hal-02645743v1
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Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe
Gaspard Kerner
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Anna-Lena Neehus
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Quentin Philippot
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Jonathan Bohlen
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Darawan Rinchai
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Journal articles
hal-04096029v1
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A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Evangelos Andreakos
,
Laurent Abel
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Donald Vinh
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Elżbieta Kaja
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Beth Drolet
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Journal articles
hal-03558195v1
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport
,
Bertrand Boisson
,
Anne Gregor
,
Vivien Béziat
,
Stéphanie Boisson-Dupuis
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et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
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hal-03372676v1
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Respiratory support in patients with severe COVID-19 in the International Severe Acute Respiratory and Emerging Infection (ISARIC) COVID-19 study: a prospective, multinational, observational study
Luis Felipe Reyes
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Srinivas Murthy
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Esteban Garcia-Gallo
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Laura Merson
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Elsa Ibáñez-Prada
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et al.
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hal-03932306v1
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TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons
Daxing Gao
,
Michael J. Ciancanelli
,
Peng Zhang
,
Oliver Harschnitz
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Vincent Bondet
,
et al.
Journal articles
pasteur-03236241v1
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
Bertrand Boisson
,
Emmanuel Laplantine
,
Kerry Dobbs
,
Aurélie Cobat
,
Nadine Tarantino
,
et al.
Journal articles
pasteur-01158038v1
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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.
Yuval Itan
,
Mark Mazel
,
Benjamin Mazel
,
Avinash Abhyankar
,
Patrick Nitschke
,
et al.
Journal articles
inserm-00977606v1
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