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25 résultats

	Pour les 25 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Towards a Life Sciences Virtual Research Environment Yvan Le Bras , Aurélien Roult , Cyril Monjoeaud , Bahin Mathieu , Olivier Quenez , et al. JOBIM 2013 - Journées Ouvertes en Biologie, Informatique et Mathématiques, Jul 2013, Toulouse, France Communication dans un congrès hal-01102438v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		e-Science in France, a Life science Western story Yvan Le Bras , Aurélien Roult , Cyril Monjoeaud , Bahin Mathieu , Olivier Quenez , et al. Galaxy Community Conference (GCC2014), Jun 2014, Baltimore, United States Poster de conférence hal-01102432v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , et al. Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩ Article dans une revue hal-02538173v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease Emmanuelle Boscher , Thomas Husson , Olivier Quenez , Annie Laquerrière , Florent Marguet , et al. Journal of Alzheimer's Disease, 2019, 68 (3), pp.1243-1255. ⟨10.3233/JAD-180940⟩ Article dans une revue hal-02539727v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Development of genomic resources for the tick Ixodes ricinus: isolation and characterization of Single Nucleotide Polymorphisms Elsa Quillery , Olivier Quenez , Pierre Peterlongo , Olivier Plantard Molecular Ecology Resources, 2013, 14 (2), pp.393-400. ⟨10.1111/1755-0998.12179⟩ Article dans une revue istex hal-00880072v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores Itziar de Rojas , Sonia Moreno-Grau , Niccolo Tesi , Benjamin Grenier-Boley , Victor Andrade , et al. Nature Communications, 2021, 12 (1), pp.3417. ⟨10.1038/s41467-021-22491-8⟩ Article dans une revue hal-04278002v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , et al. Human Mutation, 2022, 43 (9), pp.1239-1248. ⟨10.1002/humu.24384⟩ Article dans une revue hal-03822689v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls Céline Bellenguez , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , Kilan Le Guennec , et al. Neurobiology of Aging, 2017, 59, pp.220.e1-220.e9. ⟨10.1016/j.neurobiolaging.2017.07.001⟩ Article dans une revue hal-01760388v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient Kilan Le Guennec , Hélène Tubeuf , Didier Hannequin , David Wallon , Olivier Quenez , et al. Journal of Alzheimer's Disease, 2018, 62 (2), pp.821-831. ⟨10.3233/JAD-170981⟩ Article dans une revue hal-02356252v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression K. Le Guennec , O. Quenez , G. Nicolas , D. Wallon , S. Rousseau , et al. Molecular Psychiatry, 2017, Equipe I, 22 (8), pp.1119--1125. ⟨10.1038/mp.2016.226⟩ Article dans une revue hal-01832142v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease Henne Holstege , Marc Hulsman , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , et al. Nature Genetics, 2022, 54 (12), pp.1786-1794. ⟨10.1038/s41588-022-01208-7⟩ Article dans une revue hal-04277872v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing Thomas Husson , Jean-Baptiste Duboc , Olivier Quenez , Camille Charbonnier , Maud Rothärmel , et al. Translational Psychiatry, 2018, 8 (1), pp.268. ⟨10.1038/s41398-018-0291-7⟩ Article dans une revue hal-02540043v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing Raphaël Leman , Béatrice Parfait , Dominique Vidaud , Emmanuelle Girodon , Laurence Pacot , et al. Human Mutation, 2022, 43 (12), pp.2308-2323. ⟨10.1002/humu.24491⟩ Article dans une revue hal-04188077v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes Stéphanie Baert-Desurmont , Sophie Coutant , Francoise Charbonnier , Pierre Macquère , François Lecoquierre , et al. European Journal of Human Genetics, 2018, 26 (11), pp.1597-1602. ⟨10.1038/s41431-018-0207-2⟩ Article dans une revue hal-02355649v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. 2019 Pré-publication, Document de travail hal-02317979v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years Morgane Lacour , Olivier Quenez , Anne Rovelet-Lecrux , Bruno Salomon , Stéphane Rousseau , et al. Journal of Alzheimer's Disease, 2019, 71 (1), pp.227-243. ⟨10.3233/JAD-190193⟩ Article dans une revue hal-02332506v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Gaël Nicolas , David Wallon , Camille Charbonnier , Olivier Quenez , Stéphane Rousseau , et al. European Journal of Human Genetics, 2016, 24 (5), pp.710-716. ⟨10.1038/ejhg.2015.173⟩ Article dans une revue hal-01431285v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Olivier Quenez , Kevin Cassinari , Sophie Coutant , Francois Lecoquierre , Kilan Le Guennec , et al. European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩ Article dans une revue hal-02883904v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing S. David , Jorge Ferreira , O. Quenez , A. Rovelet-Lecrux , A.-C. Richard , et al. European Journal of Human Genetics, 2016, 24 (11), pp.1630--1634. ⟨10.1038/ejhg.2016.50⟩ Article dans une revue hal-01397791v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease Gaël Nicolas , Rocio Acuna-Hidalgo , Michael Keogh , Olivier Quenez , Marloes Steehouwer , et al. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018, 14 (12), pp.1632-1639. ⟨10.1016/j.jalz.2018.06.3056⟩ Article dans une revue hal-02540061v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , et al. American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩ Article dans une revue hal-02356422v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations Kevin Cassinari , Olivier Quenez , Géraldine Joly-Helas , Ludivine Beaussire , Nathalie Le Meur , et al. Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩ Article dans une revue hal-02339190v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype Lou Grangeon , David Wallon , Camille Charbonnier , Olivier Quenez , Anne-Claire Richard , et al. Brain - A Journal of Neurology , 2019, 142 (6), pp.1573-1586. ⟨10.1093/brain/awz095⟩ Article dans une revue hal-02538301v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		ABCA7 rare variants and Alzheimer disease risk Kilan Le Guennec , Gaël Nicolas , Olivier Quenez , Camille Charbonnier , David Wallon , et al. Neurology, 2016, Equipe 4, 86 (23), pp.2134--2137. ⟨10.1212/WNL.0000000000002627⟩ Article dans une revue hal-01831744v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert‐desurmont , Claire Bardel , et al. Human Mutation, 2019, 40 (11), pp.1993-2000. ⟨10.1002/humu.23845⟩ Article dans une revue hal-02339267v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Towards a Life Sciences Virtual Research Environment

e-Science in France, a Life science Western story

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease

Development of genomic resources for the tick Ixodes ricinus: isolation and characterization of Single Nucleotide Polymorphisms

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

ABCA7 rare variants and Alzheimer disease risk

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis