Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Frédéric Tran Mau-Them, Antonio Vitobello, Julian Delanne, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Sophie Nambot, P. Callier, Laurence Faivre, Ange-Line Bruel, Christophe Philippe, Yannis Duffourd, Arthur Sorlin, Christel Thauvin-Robinet
Publikováno v:
Clinical Genetics. 98:433-444
Recent advances in next-generation sequencing (NGS) technologies have revolutionized the field of human genetics. Alongside a broad panel of bioinformatics tools and databases, NGS technologies have unprecedentedly improved the molecular diagnosis ra
Autor:
Sebastien Moutton, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christel Thauvin-Robinet, Philippine Garret, Thibaud Jouan, Martin Chevarin, Benoit Urteaga, Yannis Duffourd, Sophie Nambot, Frédéric Tran-Mau-Them, Arthur Sorlin, François Lecoquierre, Ange-Line Bruel, Christine Coubes
Publikováno v:
Genetics in Medicine. 21:2504-2511
Next-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual disability, autism, and epilepsy. However, a substantial fraction of these predicted pathogenic DNVs remains chal
Autor:
Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot
Publikováno v:
Journal of the Neurological Sciences
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3329cef9705665a2779172bf299f6c60
https://hal.inrae.fr/hal-03463169
https://hal.inrae.fr/hal-03463169
Autor:
Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parental DNA poo
Autor:
Aurore Pélissier, Anne-Laure Mosca-Boidron, Thibaud Jouan, Elodie Cretin, Maxime Luu, Pierre Vabres, Jean-François Deleuze, Chritine Peyron, Nolwenn Jean-Marçais, Julien Thevenon, Christine Binquet, Frédéric Tran Mau-Them, Ange-Line Bruel, Patrick Callier, Elodie Gautier, Laurent Demougeot, Daphné Lehalle, Christophe Philippe, Paul Kuentz, Martin Chevarin, Sophie Nambot, Aline Chassagne, Charlotte Poe, Christel Thauvin-Robinet, Mathilde Lefebvre, Marc Bardou, Céline Verstuyft, Antonio Vitobello, Laurence Faivre, Julian Delanne, Emilie Tisserant, Arthur Sorlin, Yannis Duffourd
Publikováno v:
Eur J Hum Genet
With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluat
Autor:
Julien Thevenon, David Geneviève, Laurence Faivre, C. F. Wells, Yannis Duffourd, camille lemattre, B. Vuadelle, Sophie Nambot, Marjolaine Willems, Paul Kuentz, Emmanuelle Haquet, Pierre Sarda, Ange-Line Bruel
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2813-2818. ⟨10.1002/ajmg.a.40510⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2813-2818. ⟨10.1002/ajmg.a.40510⟩
IF 2.264; International audience; Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been id
Autor:
Judith St-Onge, Antonio Vitobello, Pierre Vabres, Nolwenn Jean-Marçais, Daphné Lehalle, Charlotte Poe, Virginie Carmignac, Ange-Line Bruel, Paul Kuentz, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe, Laurence Faivre, Emilie Tisserant, Salima El Chehadeh-Djebbar, Frédéric Tran Mau-Them, Julien Thevenon, Yannis Duffourd, Christel Thauvin-Robinet, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Thibaud Jouan, Martin Chevarin, Sophie Nambot, Mathilde Lefebvre
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017162〉. 〈10.1038/gim.2017.162〉
Genetics in Medicine, Nature Publishing Group, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017162〉. 〈10.1038/gim.2017.162〉
Genetics in Medicine, Nature Publishing Group, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d5b63d78cd91fdcdc1b50f4c12a602a
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01635326
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01635326
Autor:
Judith St-Onge, Anne-Laure Mosca-Boidron, Thibaud Jouan, Frédéric Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Sebastien Moutton, Aurélie Bourchany, Nolwenn Jean, Aurélia Jaquette, Christel Thauvin-Robinet, Daphné Lehalle, Elise Schaefer, Nada Houcinat, Charlotte Poe, Yannis Duffourd, Paul Kuentz, Salima El Chehadeh-Djebbar, Alice Masurel-Paulet, Martin Chevarin, Laurence Faivre, Sophie Nambot, Marjorie Willems, Mathilde Lefebvre, Nicole Laurent, Antonio Vitobello, Frédéric Huet, Julien Thevenon, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125f5ad428afc365a62dc4dbfa3b08ee
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
Autor:
Christine Durand, Faratanjona Harizay, Thibaud Jouan, Thierry Rousseau, Mathilde Lefebvre, Christel Thauvin-Robinet, Julien Thevenon, Yannis Duffourd, Paul Kuentz, Frédéric Tran Mau-Them, Laurence Faivre, Nicolas Bourgon, Christophe Philippe, Nicole Laurent
Publikováno v:
Prenatal diagnosisREFERENCES. 39(9)
Autor:
Marie Eliade, Jeremy Skrzypski, Amandine Baurand, Caroline Jacquot, Geoffrey Bertolone, Catherine Loustalot, Charles Coutant, France Guy, Pierre Fumoleau, Yannis Duffourd, Laurent Arnould, Alexandra Delignette, Marie-Martine Padéano, Côme Lepage, Géraldine Raichon-Patru, Axelle Boudrant, Marie-Christine Bône-Lépinoy, Anne-Laure Villing, Aurélie Charpin, Karine Peignaux, Sandy Chevrier, Frédérique Vegran, François Ghiringhelli, Romain Boidot, Nicolas Sevenet, Sarab Lizard, Laurence Faivre
Publikováno v:
Oncotarget
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. 〈http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path=12699&pubmed-linkout=1〉. 〈10.18632/oncotarget.12699〉
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. ⟨10.18632/oncotarget.12699⟩
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. 〈http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path=12699&pubmed-linkout=1〉. 〈10.18632/oncotarget.12699〉
Oncotarget, Impact journals, 2017, 8 (2), pp.1957-1971. ⟨10.18632/oncotarget.12699⟩
IF 5.008 (2015/2016); International audience; Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3e57cdb27eb854c758930ccf5b719d
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01527309
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01527309