Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Kevin, Yauy"'
Autor:
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for predicting KS (Kabuki Syndrome) on 2D faci
Externí odkaz:
https://doaj.org/article/9c5ec937868541c8bad4ceb27187e34f
Autor:
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossée
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7330 (2023)
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as targeted sequencing, in order to be fully adopted. However, no clear recommendations or methodology have emerged for evaluating this t
Externí odkaz:
https://doaj.org/article/327853dbd7994c58bb6fca18d657760b
Autor:
Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor, Vincent Gatinois
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced
Externí odkaz:
https://doaj.org/article/af431e66ab844436af04e46b042eb9d4
Autor:
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, Detlef Trost, Aicha Boughalem, Armelle Luscan, Jean-Marc Costa, Vanna Geromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphael Lanos, Quentin Fort, Stenzel Cackowski, Quentin Testard, Abdoulaye Diallo, Nicolas Soirat, Jean-Marc Holder, Nicolas Duforet-Frebourg, Anne-Laure Bouge, Sacha Beaumeunier, Denis Bertrand, Jerome Audoux, David Genevieve, Laurent Mesnard, Gael Nicolas, Julien Thevenon, Nicolas Philippe
Publikováno v:
Genetics in Medicine. 24:1316-1327
Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such reinterpretation is manual and both human resources and variable operating procedures are the main bottlenecks.Genome Alert! metho
Autor:
David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that careg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1
https://doi.org/10.21203/rs.3.rs-2760508/v1
Autor:
Julien Thevenon, Kevin Yauy, Nicolas Duforet-Frebourg, Quentin Testard, Sacha Beaumeunier, Jerome Audoux, Benoit Simard, DImitri Larue, Michael Blum, VIrginie Bernard, David Geneviève, Denis Bertrand, Nicolas Philippe
Observing phenotyping practices from an international cohort of 1,686 cases revealed heterogeneity of phenotype reporting among clinicians. Heterogeneity limited their exploitation for diagnosis as only 43% of symptom-gene associations in the cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a22ed594c89e1a46ac9e01dfc7b612d7
https://doi.org/10.21203/rs.3.rs-2152267/v1
https://doi.org/10.21203/rs.3.rs-2152267/v1
Autor:
Pascal, Pujol, Kevin, Yauy, Amandine, Coffy, Nicolas, Duforet-Frebourg, Sana, Gabteni, Jean-Pierre, Daurès, Frédérique, Penault Llorca, Frédéric, Thomas, Kevin, Hughes, Clare, Turnbull, Virginie, Galibert, Chloé, Rideau, Carole, Corsini, Laetitia, Collet, Benoit, You, David, Geneviève, Nicolas, Philippe
Publikováno v:
Cancers. 14(13)
Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA) in both the metastatic and adjuvant settin
Publikováno v:
Genetics in Medicine, 22, 803-808
Genetics in Medicine, 22, 4, pp. 803-808
Genetics in Medicine
Genetics in Medicine, 22, 4, pp. 803-808
Genetics in Medicine
Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or single-nucleotide polymorphism (SNP)-based microarrays. UPDs may lead to disease
Autor:
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon
BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732
https://doi.org/10.1101/2021.10.14.21264732
Autor:
Sophie Coutant, Armelle Luscan, Quentin Fort, Nicolas Soirat, Abdoulaye Hama Diallo, Mélanie Broutin, Julien Thevenon, Nicolas Philippe, Stéphanie Baert-Desurmont, David Geneviève, Raphaël Lanos, Sacha Beaumeunier, Laurent Mesnard, Jean-Marc Costa, Jérôme Audoux, Kevin Yauy, Laure Raymond, Vanna Geromel, Denis Bertrand, Jean-Marc Holder, Stenzel Cackowski, Aïcha Boughalem, Detlef Trost, Anne-Laure Bougé, Gaël Nicolas, Pascale Richard, Nicolas Duforet-Frebourg, François Lecoquierre, Quentin Testard
Numerous countries have set up population genomics plans, allowing an unprecedented growth in the ability of interpreting variants in human diseases. Retrospective interpretation of sequenced data in the light of the current literature is a major con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d1d21fbb3052a335d996f21f92bb22a
https://doi.org/10.1101/2021.07.13.21260422
https://doi.org/10.1101/2021.07.13.21260422