Executive functioning in adolescents and adults with Silver-Russell syndrome. by Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent

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Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome by Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh

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Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected by 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

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

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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... by Estelle Colin, Estelle Colin, Yannis Duffourd, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Julian Delanne, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Martin Chevarin, Charlotte Poë, Charlotte Poë, Victor Couturier, Victor Couturier, Valentin Bourgeois, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Robert Olaso, Christophe Philippe, Christophe Philippe, Bekim Sadikovic, Bekim Sadikovic, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Jean-François Deleuze, Jean-François Deleuze, Antonio Vitobello, Antonio Vitobello

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

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. by Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool by Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Ange-Line Bruel, Ange-Line Bruel, Antonio Vitobello, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, 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, Mathilde Nizon, Sandra Mercier, Sandra Mercier, Marie Vincent, Marie Vincent, Bertrand Isidor, Bertrand Isidor, Jeanne Amiel, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Yannis Duffourd, Christophe Philippe, Christophe Philippe, Laurence Faivre, Laurence Faivre, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet

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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. by Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef

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Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization by 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

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The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol by Catherine Lejeune, Catherine Lejeune, Charley Robert-Viard, Charley Robert-Viard, Nicolas Meunier-Beillard, 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, Hamza Hadj Abdallah, Stanislas Lyonnet, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Thierry Frebourg, Jean Muller, Jean Muller, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment by Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault

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