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Analysis of Repair Mechanisms following an Induced Double-Strand Break Uncovers Recessive Deleterious Alleles in the Candida albicans Diploid Genome

Adeline Feri , Raphaël Loll-Krippleber , Pierre-Henri Commere , Corinne Maufrais , Natacha Sertour et al.
mBio, 2016, 7 (5), ⟨10.1128/mBio.01109-16⟩
Journal articles pasteur-01382826v1
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Gene-lifestyle interactions in the genomics of human complex traits

Vincent Laville , Timothy Majarian , Yun J. Sung , Karen Schwander , Mary F. Feitosa et al.
European Journal of Human Genetics, 2022, 30, pp.730 - 739. ⟨10.1038/s41431-022-01045-6⟩
Journal articles pasteur-03712477v1
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On the evolutionary ecology of multidrug resistance in bacteria

Sonja Lehtinen , François Blanquart , Marc Lipsitch , Christophe Fraser
PLoS Pathogens, 2019, 15 (5), pp.e1007763. ⟨10.1371/journal.ppat.1007763⟩
Journal articles hal-02347472v1

Evolution of inbreeding coefficients (FIT, FIS and FST) and effective size (Ne) in the population of Saguenay Lac-St-Jean (Quebec)

S. Mourali-Chebil , Evelyne Heyer
Human Biology, 2006, 78 (4), pp.495-508
Journal articles hal-00252002v1

Role of the DGAT gene C79T single-nucleotide polymorphism in French obese subjects.

Sylvie Kipfer Coudreau , Patrick Tounian , Geneviève Bonhomme , Philippe Froguel , Jean-Philippe Girardet et al.
Obesity Research, 2003, 11 (10), pp.1163-7
Journal articles hal-00174573v1

The Cohesion complex maintains genome stability by preventing end joining of distant DNA ends in S phase

Ambre Petitalot , Elodie Dardillac , Eric Jacquet , Naima Nhiri , Josee Guirouilh-Barbat et al.
Molecular & Cellular Oncology, 2018, 5 (3), pp.e1154123. ⟨10.1080/23723556.2016.1154123⟩
Journal articles hal-03048279v1
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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

Antonio Rausell , Yufei Luo , Marie Lopez , Yoann Seeleuthner , Franck Rapaport et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
Journal articles hal-03020429v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

E Lajeunie , V El Ghouzzi , M. Le Merrer , A. Munnich , J. Bonaventure et al.
Journal of Medical Genetics, 1999, 36 (1), pp.9-13
Journal articles hal-02342819v1
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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Pascaline Létard , Séverine Drunat , Yoann Vial , Sarah Duerinckx , Anais Ernault et al.
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Journal articles hal-02393637v1
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Relapsed diffuse large B-cell lymphoma present different genomic profiles between early and late relapses

Julien Broséus , Gaili Chen , Sébastien Hergalant , Gérard Ramstein , Nicolas Mounier et al.
Oncotarget, 2016, 7 (51), pp.83987-84002. ⟨10.18632/oncotarget.9793⟩
Journal articles hal-02314515v1
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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck , Anahi Mollà-Herman , Nathalie Boddaert , Ferechte Encha-Razavi , Anne Philippe et al.
Human Mutation, 2008, 29 (7), pp.966-974. ⟨10.1002/humu.20531⟩
Journal articles hal-02044435v1
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Transgenic mice overexpressing the 5-hydroxytryptamine transporter gene in smooth muscle develop pulmonary hypertension.

Christophe Guignabert , Mohamed Izikki , Ly Ieng Tu , Zhenlin Li , Patricia Zadigue et al.
Circulation Research, 2006, 98 (10), pp.1323-30. ⟨10.1161/01.RES.0000222546.45372.a0⟩
Journal articles inserm-00499636v1
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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 , Mohamed Abdel-Hamid , Julien Guergnon , Amira Mohsen , Lénaïg Le Fouler et al.
PLoS ONE, 2012, 7 (6), pp.e38578. ⟨10.1371/journal.pone.0038578⟩
Journal articles hal-03684772v1

DNA electroporation in rabbits as a method for generation of high-titer neutralizing antisera

Aurore Burgain , Alice Rochard , Capucine Trollet , Christelle Mazuet , Michel Popoff et al.
Human Vaccines & Immunotherapeutics, 2013, 9 (10), pp.2147 - 2156. ⟨10.4161/hv.25192⟩
Journal articles pasteur-01766305v1

Ranked Tree Shapes, Nonrandom Extinctions, and the Loss of Phylogenetic Diversity

Odile Maliet , Fanny Gascuel , Amaury Lambert
Systematic Biology, 2018, 67 (6), pp.1025-1040. ⟨10.1093/sysbio/syy030⟩
Journal articles hal-03914371v1

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

Yann Fichou , Juliette Nectoux , Nadia Bahi-Buisson , Jamel Chelly , Thierry Bienvenu et al.
Journal of Human Genetics, 2011, 56 (1), pp.52-57. ⟨10.1038/jhg.2010.143⟩
Journal articles hal-04028132v1
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The cytosolic/nuclear HSC70 and HSP90 molecular chaperones are important for stomatal closure and modulate abscisic acid-dependent physiological responses in Arabidopsis

Mathilde Clément , Nathalie Leonhardt , Marie-Jo Droillard , Ilja Reiter , Jean-Luc Montillet et al.
Plant Physiology, 2011, 156 (3), pp.1481-1492. ⟨10.1104/pp.111.174425⟩
Journal articles hal-02646258v1
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Crosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies

Raêd Daher , Nicolas Ducrot , Thibaud Lefebvre , Sofia Zineeddine , Jérome Ausseil et al.
Metabolites, 2022, 12 (2), pp.89. ⟨10.3390/metabo12020089⟩
Journal articles inserm-03874980v1
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New insights into human immunity from ancient genomics

Gaspard Kerner , Etienne Patin , Lluis Quintana-Murci
Current Opinion in Immunology, 2021, 72, pp.116-125. ⟨10.1016/j.coi.2021.04.006⟩
Journal articles hal-03372683v1
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The genomic signatures of natural selection in admixed human populations

Sebastian Cuadros-Espinoza , Guillaume Laval , Lluis Quintana-Murci , Etienne Patin
American Journal of Human Genetics, 2022, 109 (4), pp.710 - 726. ⟨10.1016/j.ajhg.2022.02.011⟩
Journal articles hal-03695997v1
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The genetic and evolutionary determinants of COVID-19 susceptibility

Gaspard Kerner , Lluis Quintana-Murci
European Journal of Human Genetics, 2022, 30 (8), pp.915-921. ⟨10.1038/s41431-022-01141-7⟩
Journal articles pasteur-04005972v1

Protéines Nef du VIH et K3/K5 du virus associé au sarcoma de Kaposi : des « parasites »de la voie d’endocytose

Serge Bénichou , Alexandre Benmerah
médecine/sciences, 2003, 19 (1), pp.100-106. ⟨10.1051/medsci/2003191100⟩
Journal articles hal-03844197v1
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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi , Maggie Brett , Eriko Nishi , Séverine Drunat , Ee-Shien Tan et al.
American Journal of Human Genetics, 2016, 99 (2), pp.451-459. ⟨10.1016/j.ajhg.2016.06.011⟩
Journal articles hal-02859852v1

BAC array CGH distinguishes mutually exclusive alterations that define clinicogenetic subtypes of gliomas.

Ahmed Idbaih , Yannick Marie , Carlo Lucchesi , Gaëlle Pierron , Elodie Manié et al.
International Journal of Cancer, 2008, 122 (8), pp.1778-86. ⟨10.1002/ijc.23270⟩
Journal articles inserm-00310507v1

Clinical variability in patients with Apert's syndrome

Elisabeth Lajeunie , Rhoda Cameron , Vincent El Ghouzzi , Nathalie de Parseval , Pierre Journeau et al.
Journal of Neurosurgery, 1999, 90 (3), pp.443-447. ⟨10.3171/jns.1999.90.3.0443⟩
Journal articles hal-02342818v1

First heterozygous NOP10 mutation in familial pulmonary fibrosis

Caroline Kannengiesser , Effrosyni Manali , Patrick Revy , Isabelle Callebaut , Ibrahima Ba et al.
European Respiratory Journal, 2020, 55 (6), pp.1902465. ⟨10.1183/13993003.02465-2019⟩
Journal articles hal-02997098v1
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Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase

Aya Awad , Galina Glousker , Noa Lamm , Shadi Tawil , Noa Hourvitz et al.
Nucleic Acids Research, 2020, 48 (13), pp.13 - 7239. ⟨10.1093/nar/gkaa503⟩
Journal articles hal-02997232v1
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The role of neurotrophin genes involved in the vulnerability to gambling disorder

Neus Solé-Morata , Isabel Baenas , Mikel Etxandi , Roser Granero , Sonia Forcales et al.
Scientific Reports, 2022, 12 (1), pp.6925. ⟨10.1038/s41598-022-10391-w⟩
Journal articles inserm-03658543v1
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Marc Engelen , Stephan Kemp , Marianne de Visser , Björn van Geel , Ronald Wanders et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.51. ⟨10.1186/1750-1172-7-51⟩
Journal articles inserm-00755770v1