Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy von Janin, Alexandre, Chanavat, Valérie, Rollat‐Farnier, Pierre‐Antoine, Bardel, Claire, Nguyen, Karine, Chevalier, Philippe, Eicher, Jean‐Christophe, Faivre, Laurence, Piard, Juliette, Albert, Emma, Nony, Severine, Millat, Gilles

Volltext

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A von Jourdy, Yohann, Bardel, Claire, Fretigny, Mathilde, Diguet, Flavie, Rollat‐Farnier, Pierre‐Antoine, Mathieu, Marie‐Laure, Labalme, Audrey, Sanlaville, Damien, Edery, Patrick, Vinciguerra, Christine, Schluth‐Bolard, Caroline

Volltext

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel‐Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat‐Farnier, Pierre‐Antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐Noëlle Bonnet, Putoux, Audrey, Raskin‐Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth‐Bolard, Caroline

Volltext

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis von Chatron, Nicolas, Cassinari, Kevin, Quenez, Olivier, Baert‐Desurmont, Stéphanie, Bardel, Claire, Buisine, Marie‐Pierre, Calpena, Eduardo, Capri, Yline, Corominas Galbany, Jordi, Diguet, Flavie, Edery, Patrick, Isidor, Bertrand, Labalme, Audrey, Le Caignec, Cedric, Lévy, Jonathan, Lecoquierre, François, Lindenbaum, Pierre, Pichon, Olivier, Rollat‐Farnier, Pierre‐Antoine, Simonet, Thomas, Saugier‐Veber, Pascale, Tabet, Anne‐Claude, Toutain, Annick, Wilkie, Andrew O. M., Lesca, Gaetan, Sanlaville, Damien, Nicolas, Gaël, Schluth‐Bolard, Caroline

Volltext

Genome reduction and potential metabolic complementation of the dual endosymbionts in the whitefly Bemisia tabaci von Rao, Qiong, Rollat-Farnier, Pierre-Antoine, Zhu, Dan-Tong, Santos-Garcia, Diego, Silva, Francisco J, Moya, Andrés, Latorre, Amparo, Klein, Cecilia C, Vavre, Fabrice, Sagot, Marie-France, Liu, Shu-Sheng, Mouton, Laurence, Wang, Xiao-Wei

Volltext

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia von Marmontel, Oriane, Rollat‐Farnier, Pierre Antoine, Wozny, Anne‐Sophie, Charrière, Sybil, Vanhoye, Xavier, Simonet, Thomas, Chatron, Nicolas, Collin‐Chavagnac, Delphine, Nony, Séverine, Dumont, Sabrina, Mahl, Muriel, Jacobs, Chantal, Janin, Alexandre, Caussy, Cyrielle, Poinsot, Pierre, Tauveron, Igor, Bardel, Claire, Millat, Gilles, Peretti, Noël, Moulin, Philippe, Marçais, Christophe, Di Filippo, Mathilde

Volltext

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization von Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurélie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Delepine, Marc, Till, Marianne, Meyer, Vincent, Lyonnet, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien

Volltext

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster von Le Caignec, Cedric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoit, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Megarbane, Andre, Toutain, Annick

Volltext

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder von Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

Volltext

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis von Calender, Alain, Rollat Farnier, Pierre Antoine, Buisson, Adrien, Pinson, Stéphane, Bentaher, Abderrazzaq, Lebecque, Serge, Corvol, Harriet, Abou Taam, Rola, Houdouin, Véronique, Bardel, Claire, Roy, Pascal, Devouassoux, Gilles, Cottin, Vincent, Seve, Pascal, Bernaudin, Jean-François, Lim, Clarice X, Weichhart, Thomas, Valeyre, Dominique, Pacheco, Yves, Clement, Annick, Nathan, Nadia

Volltext

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familia... von Vanhoye, Xavier, Bardel, Claire, Rimbert, Antoine, Moulin, Philippe, Rollat-Farnier, Pierre-Antoine, Muntaner, Manon, Marmontel, Oriane, Dumont, Sabrina, Charrière, Sybil, Cornélis, François, Ducluzeau, Pierre Henri, Fonteille, Annie, Nobecourt, Estelle, Peretti, Noël, Schillo, Franck, Wargny, Matthieu, Cariou, Bertrand, Meirhaeghe, Aline, Di Filippo, Mathilde

Volltext

Alpha Satellite Insertion Close to an Ancestral Centromeric Region von Giannuzzi, Giuliana, Logsdon, Glennis A, Chatron, Nicolas, Miller, Danny E, Reversat, Julie, Munson, Katherine M, Hoekzema, Kendra, Bonnet-Dupeyron, Marie-Noëlle, Rollat-Farnier, Pierre-Antoine, Baker, Carl A, Sanlaville, Damien, Eichler, Evan E, Schluth-Bolard, Caroline, Reymond, Alexandre

Volltext

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency? von Januel, Louis, Chanavat, Valerie, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Nony, Severine, Millat, Gilles, Janin, Alexandre

Volltext

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients von Masson, Julie, Pons, Linda, Busa, Tiffany, Missirian, Chantal, Lines, Matthew, Tevissen, Hélène, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Lesca, Gaétan, Sanlaville, Damien, Schluth-Bolard, Caroline

Volltext

A 14q distal chromoanagenesis elucidated by whole genome sequencing von Ader, Flavie, Heide, Solveig, Marzin, Pauline, Afenjar, Alexandra, Diguet, Flavie, Chantot Bastaraud, Sandra, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Portnoï, Marie-France, Siffroi, Jean-Pierre, Schluth-Bolard, Caroline

Volltext

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing von Pons, Linda, Bouvagnet, Patrice, Bakloul, Mohamed, Di Filippo, Sylvie, Buisson, Adrien, Chatron, Nicolas, Labalme, Audrey, Metton, Olivier, Mitchell, Julia, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Schluth-Bolard, Caroline

Volltext

Two host clades, two bacterial arsenals: evolution through gene losses in facultative endosymbionts von Rollat-Farnier, Pierre-Antoine, Santos-Garcia, Diego, Rao, Qiong, Sagot, Marie-France, Silva, Francisco J, Henri, Hélène, Zchori-Fein, Einat, Latorre, Amparo, Moya, Andrés, Barbe, Valérie, Liu, Shu-Sheng, Wang, Xiao-Wei, Vavre, Fabrice, Mouton, Laurence

Volltext

Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis von Calender, Alain, Lim, Clarice X, Weichhart, Thomas, Buisson, Adrien, Besnard, Valérie, Rollat-Farnier, Pierre Antoine, Bardel, Claire, Roy, Pascal, Cottin, Vincent, Devouassoux, Gilles, Finat, Amélie, Pinson, Stéphane, Lebecque, Serge, Nunes, Hilario, Israel-Biet, Dominique, Bentaher, Abderazzaq, Valeyre, Dominique, Pacheco, Yves

Volltext

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia von Rimbert, Antoine, Vanhoye, Xavier, Coulibaly, Dramane, Marrec, Marie, Pichelin, Matthieu, Charrière, Sybil, Peretti, Noël, Valéro, René, Wargny, Matthieu, Carrié, Alain, Lindenbaum, Pierre, Deleuze, Jean-François, Genin, Emmanuelle, Redon, Richard, Rollat-Farnier, Pierre Antoine, Goxe, Didier, Degraef, Gilles, Marmontel, Oriane, Divry, Eléonore, Bigot-Corbel, Edith, Moulin, Philippe, Cariou, Bertrand, Di Filippo, Mathilde

Volltext

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel-Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat-Farnier, Pierre‐antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐noëlle Bonnet, Putoux, Audrey, Raskin-Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth-Bolard, Caroline

Volltext