المؤلفون: Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin

المصدر: Neurobiology of Disease, Vol 185, Iss , Pp 106259- (2023)

مصطلحات موضوعية: Brain neuroanatomical phenotyping, Cohen syndrome, Mouse mutants, Neurodegeneration, VPS13B, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123002747; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/f9f8187efd4345399a21f8121cc60521

المؤلفون: Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd

المؤلفون: Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Sophie Brisset, Anne Mayeur, Jérôme Bouligand, Anne Boland-Auge, Jean-François Deleuze, Frank Yates, Thomas Lemonnier, Patrick Callier, Yannis Duffourd, Patrick Nitschke, Emmanuelle Ollivier, Arnaud Bourdin, John De Vos, Gabriel Livera, Gérard Tachdjian, Leïla Maouche-Chrétien, Lucie Tosca

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/448defd6914244f9bd5854134c078283

المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd

المؤلفون: Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: exome sequencing (ES), chromosomal microarray, prenatal, fetal, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1099995/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602

المؤلفون: Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: genome sequencing, RNA-seq, optical genome mapping, long-read sequencing, clinical diagnoses, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1021920/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/4593e6258ee746c78872071719392347

المؤلفون: Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Charlotte Poë, Victor Couturier, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Faivre, Jean-François Deleuze, Antonio Vitobello

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: undiagnosed neurodevelopmental diseases, genome sequencing, transcriptome sequencing, DNA methylation analysis, translational research, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1021785/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/dc232e817b8e4d02a082ed5b52095a4f

المؤلفون: Catherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: intellectual disability, genome sequencing, cost-effectiveness, qualitative study, micro-costing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.852472/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/20632c85104a48d79a40c08ac9c4621f

المؤلفون: Christine Binquet, Catherine Lejeune, Laurence Faivre, Marion Bouctot, Marie-Laure Asensio, Alban Simon, Jean-François Deleuze, Anne Boland, Francis Guillemin, Valérie Seror, Christelle Delmas, Hélène Espérou, Yannis Duffourd, Stanislas Lyonnet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Bénédicte Gerard, Hélène Dollfus

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: genome sequencing, intellectual disability, cost-effectiveness, minimal reference strategy, diagnostic odyssey, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.766964/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8485ea3deafa4bd6b36468b67db3482b

المؤلفون: 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

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: cost effectiveness, exome sequencing, rare diseases, trio‐like strategy, parental‐pool strategy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/bbdbad8ddcb0479ebcf777fc0b41aff1

المؤلفون: Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)

مصطلحات موضوعية: Inherited metabolic disorders, Exome sequencing, Intellectual disability, Developmental delay, Genotype first, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001075; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582e

المؤلفون: Eloïse Bailly, Stéphane Valot, Anne Vincent, Yannis Duffourd, Nadège Grangier, Martin Chevarin, Damien Costa, Romy Razakandrainibe, Loïc Favennec, Louise Basmaciyan, Frédéric Dalle

المصدر: Pathogens, Vol 11, Iss 8, p 938 (2022)

مصطلحات موضوعية: Next-Generation Sequencing, Cryptosporidium sp., cryptosporidiosis, epidemiology, subtyping, genetic diversity, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-0817/11/8/938; https://doaj.org/toc/2076-0817

URL الوصول: https://doaj.org/article/57f77312bb7449d38126f518774de3dc

المؤلفون: Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: 10X Genomics: Illumina, bioinformatics, genome sequencing, structural variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4

المؤلفون: Anna-Gaelle Valard-Giguet, Jacqueline Véronique-Baudin, Yannis Duffourd, Jocelyn Inamo, Cyril Goizet, Rémi Bellance, Juliette Smith-Ravin

المصدر: Journal of Global Health Reports, Vol 4 (2020)

مصطلحات موضوعية: Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-1623

URL الوصول: https://doaj.org/article/9fb2e700b5644e8ea4d89888cb4a0de0

المؤلفون: Lucile Couronné, Laurianne Scourzic, Camilla Pilati, Véronique Della Valle, Yannis Duffourd, Eric Solary, William Vainchenker, Jean-Philippe Merlio, Marie Beylot-Barry, Frederik Damm, Marc-Henri Stern, Philippe Gaulard, Laurence Lamant, Eric Delabesse, Hélène Merle-Beral, Florence Nguyen-Khac, Michaëla Fontenay, Hervé Tilly, Christian Bastard, Jessica Zucman-Rossi, Olivier A. Bernard, Thomas Mercher

المصدر: Haematologica, Vol 98, Iss 11 (2013)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6838; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/f334678c0e2b445b8d34ab99d3663d95

المؤلفون: Martin Chevarin, Diana Alcantara, Julliette Albuisson, Marie-Agnes Collonge-Rame, Celine Populaire, Zohair Selmani, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Patrick Callier, Yannis Duffourd, Phillipe Jonveaux, Yves-Jean Bignon, Isabelle Coupier, Francios Cornelis, Christophe Cordier, Monique Mozelle-Nivoix, Jean-Baptiste Rivière, Paul Kuentz, Christal Thauvin, Romain Boidot, Francios Ghiringhelli, Mark O'Driscoll, Lawrence Faivre, Sophie Nambot

مصطلحات موضوعية: ATR, exome sequencing, extreme phenotype, genetic predisposition to cancer, male breast cancer, Female, Humans, Male, Alleles, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Genetic Predisposition to Disease, Phenotype, Phosphorylation

Relation: 10779/uos.23496395.v1; https://figshare.com/articles/journal_contribution/The_extreme_phenotype_approach_applied_to_male_breast_cancer_allows_the_identification_of_rare_variants_of_ATR_as_potential_breast_cancer_susceptibility_alleles/23496395

الاتاحة: https://figshare.com/articles/journal_contribution/The_extreme_phenotype_approach_applied_to_male_breast_cancer_allows_the_identification_of_rare_variants_of_ATR_as_potential_breast_cancer_susceptibility_alleles/23496395

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen Christian, olve-RD consortium: Olaf Riess, Tobias B Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A C 't Hoen, Lisenka E L M Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris Te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek Jr, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter de Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A Swertz, Lennart Johansson, Joeri K van der Velde, Gerben van der Vries, Pieter B Neerincx, David Ruvolo, Kristin M Abbott, Wilhemina SKerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Marielle van Gijn, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Caroline Rooryck, Didier Lacombe, Aurelien Trimouille, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Simone Furini, Chiara Fallerini, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Francina Munell, Clara Franco Jarava, Laura Batlle Masó, Anna Marcé-Grau, Roger Colobran, Andrés Nascimento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, Bodo Grimbacher, David Beeson, Judith Cossins, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Patrick F Chinnery, Thiloka Ratnaike, Fei Gao, Katherine Schon, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump, Ayşe Nazlı Başak, Dimitri Hemelsoet, Bart Dermaut, Nika Schuermans, Bruce Poppe, Hannah Verdin, Davide Mei, Annalisa Vetro, Simona Balestrini, Renzo Guerrini, Kristl Claeys, Gijs W E Santen, Emilia K Bijlsma, Mariette J V Hoffer, Claudia A L Ruivenkamp, Kaan Boztug, Matthias Haimel, Isabelle Maystadt, Isabelle Cordts, Marcus Deschauer, Ioannis Zaganas, Evgenia Kokosali, Mathioudakis Lambros, Athanasios Evangeliou, Martha Spilioti, Elisabeth Kapaki, Mara Bourbouli, Pasquale Striano, Federico Zara, Antonella Riva, Michele Iacomino, Paolo Uva, Marcello Scala, Paolo Scudieri, Maria-Roberta Cilio, Evelina Carpancea, Chantal Depondt, Damien Lederer, Yves Sznajer, Sarah Duerinckx, Sandrine Mary, Christel Depienne, Andreas Roos, Patrick May

المساهمون: Burcu, Yaldiz, Erdi, Kucuk, Juliet, Hampstead, Tom, Hofste, Rolph, Pfundt, Jordi, Corominas Galbany, Tuula, Rinne, Helger G, Yntema, Alexander, Hoischen, Marcel, Nelen, Christian, Gilissen, consortium: Olaf Riess, olve-RD, B Haack, Tobia, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, M Schulze-Hentrich, Julia, Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, C 't Hoen, Peter A, M Vissers, Lisenka E L, Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, M de Voer, Richarda, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Te Paske, Iri, Janssen, Erik, de Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, J Brookes, Anthony, Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Yavari Dizjikan, Farid, Shorter, Thoma, Töpf, Ana, Straub, Volker, Marini Bettolo, Chiara, Diaz Manera, Jordi, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Glynne Gut, Ivo, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle, Picó, Daniel, Paramonov, Ida, Lochmüller, Hann, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni

مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37138343; info:eu-repo/semantics/altIdentifier/wos/WOS:000979939700001; volume:17; issue:1; numberofpages:9; journal:HUMAN GENOMICS; https://hdl.handle.net/11365/1264554; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158030412; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

الاتاحة: https://hdl.handle.net/11365/1264554
https://doi.org/10.1186/s40246-023-00485-5
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

المؤلفون: Benoit Mazel, Delphine Mallet, Florence Roucher‐Boulez, Candace Ben Signor, Marie Bournez, Véronique Darmency, Valentin Bourgeois, Charlotte Poe, Fares El Khabbaz, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Sophie Nambot

المصدر: American Journal of Medical Genetics Part A. 188:3540-3545

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6d760961859533546bb5aa060cdfd82
https://doi.org/10.1002/ajmg.a.62966

المؤلفون: Simon Verdez, Juliette Albuisson, Yannis Duffourd, Romain Boidot, Manon Reda, Christel Thauvin-Robinet, Jean-David Fumet, Sylvain Ladoire, Sophie Nambot, Patrick Callier, Laurence Faivre, François Ghiringhelli, Nicolas Picard

المصدر: Pharmacogenomics. 23:759-770

مصطلحات موضوعية: Analgesics, Opioid, Pharmacology, Cytochrome P-450 CYP2D6, Drug-Related Side Effects and Adverse Reactions, Genotype, Pharmacogenetics, Genetics, Antiemetics, Humans, Molecular Medicine, Exome, Fluorouracil, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2699a0cd3351ba563af211d9e982445
https://doi.org/10.2217/pgs-2022-0085