Piezo1 is required for outflow tract and aortic valve development von Faucherre, Adèle, Moha ou Maati, Hamid, Nasr, Nathalie, Pinard, Amélie, Theron, Alexis, Odelin, Gaëlle, Desvignes, Jean-Pierre, Salgado, David, Collod-Béroud, Gwenaëlle, Avierinos, Jean-François, Lebon, Guillaume, Zaffran, Stéphane, Jopling, Chris

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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution von Salgado, David, Desvignes, Jean-Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod-Béroud, Gwenaëlle, Béroud, Christophe

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Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders von Attias, David, Stheneur, Chantal, Roy, Carine, Collod-Béroud, Gwenaëlle, Detaint, Delphine, Faivre, Laurence, Delrue, Marie-Ange, Cohen, Laurence, Francannet, Christine, Béroud, Christophe, Claustres, Mireille, Iserin, Franck, Khau Van Kien, Philippe, Lacombe, Didier, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Plauchu, Henri, Rio, Marlène, Rossi, Annick, Sidi, Daniel, Steg, Philippe Gabriel, Ravaud, Philippe, Boileau, Catherine, Jondeau, Guillaume

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DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene von Blanchard, Arnaud, Ea, Vuthy, Roubertie, Agathe, Martin, Mélanie, Coquart, Coline, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations von Faivre, Laurence, Masurel-Paulet, Alice, Collod-Beroud, Gwenaelle, Callewaert, Bert L, Child, Anne H, Stheneur, Chantal, Binquet, Christine, Gautier, Elodie, Chevallier, Bertrand, Huet, Frederic, Loeys, Bart L, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Kiotsekoglou, Anatoli, Comeglio, Paolo, Grasso, Maurizia, Halliday, Dorothy J, Beroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Robinson, Peter N, Ades, Lesley, De Backer, Julie, Coucke, Paul, Francke, Uta, De Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume

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Identification of a peripheral blood gene signature predicting aortic valve calcification von MacGrogan, Donal, Martínez-Poveda, Beatriz, Desvignes, Jean-Pierre, Fernandez-Friera, Leticia, Gomez, Manuel José, Gil Vilariño, Eduardo, Callejas Alejano, Sergio, Garcia-Pavia, Pablo, Solis, Jorge, Lucena, Joaquín, Salgado, David, Collod-Béroud, Gwenaelle, Faure, Emilie, Théron, Alexis, Torrents, Julia, Avierinos, Jean-François, Montes, Lorena, Dopazo, Ana, Fuster, Valentín, Ibañez, Borja, Sánchez-Cabo, Fátima, Zaffran, Stephane, de la Pompa, José Luis

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UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity--application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2 von Frédéric, Mélissa Yana, Lalande, Marine, Boileau, Catherine, Hamroun, Dalil, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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Actionable Genes, Core Databases, and Locus-Specific Databases von Pinard, Amélie, Miltgen, Morgane, Blanchard, Arnaud, Mathieu, Hélène, Desvignes, Jean-Pierre, Salgado, David, Fabre, Aurélie, Arnaud, Pauline, Barré, Laura, Krahn, Martin, Grandval, Philippe, Olschwang, Sylviane, Zaffran, Stéphane, Boileau, Catherine, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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Protein domains provide a new layer of information for classifying human variations in rare diseases von Corcuff, Mélanie, Garibal, Marc, Desvignes, Jean-Pierre, Guien, Céline, Grattepanche, Coralie, Collod-Béroud, Gwenaëlle, Ménoret, Estelle, Salgado, David, Béroud, Christophe

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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases von Pinard, Amélie, Salgado, David, Desvignes, Jean-Pierre, Rai, Ghadi, Hanna, Nadine, Arnaud, Pauline, Guien, Céline, Martinez, Maria, Faivre, Laurence, Jondeau, Guillaume, Boileau, Catherine, Zaffran, Stéphane, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene von Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Buyck, Jean François, Gouya, Laurent, Le Parc, Jean-Marie, Moura, Bertrand, Muti, Christine, Grandchamp, Bernard, Sultan, Gilles, Claustres, Mireille, Aegerter, Philippe, Chevallier, Bertrand, Jondeau, Guillaume, Boileau, Catherine

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals von Desmet, François-Olivier, Hamroun, Dalil, Lalande, Marine, Collod-Béroud, Gwenaëlle, Claustres, Mireille, Béroud, Christophe

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UMD (Universal Mutation Database): 2005 update von Béroud, Christophe, Hamroun, Dalil, Collod-Béroud, Gwenaëlle, Boileau, Catherine, Soussi, Thierry, Claustres, Mireille

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Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect von Pinard, Amélie, Eudes, Nathalie, Mitchell, Julia, Bajolle, Fanny, Grelet, Maude, Okoronkwo, Joséphine, Bonnet, Damien, Collod-Béroud, Gwenaelle, Zaffran, Stéphane

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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related d... von Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Gouya, Laurent, Sultan, Gilles, Le Parc, Jean-Marie, Moura, Bertrand, Attias, David, Muti, Christine, Sznajder, Marc, Claustres, Mireille, Junien, Claudine, Baumann, Clarisse, Cormier-Daire, Valérie, Rio, Marlène, Lyonnet, Stanislas, Plauchu, Henri, Lacombe, Didier, Chevallier, Bertrand, Jondeau, Guillaume, Boileau, Catherine

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FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations von Frédéric, Melissa Yana, Monino, Christine, Marschall, Christoph, Hamroun, Dalil, Faivre, Laurence, Jondeau, Guillaume, Klein, Hanns-Georg, Neumann, Luitgard, Gautier, Elodie, Binquet, Christine, Maslen, Cheryl, Godfrey, Maurice, Gupta, Prateek, Milewicz, Dianna, Boileau, Catherine, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2 von Frederic, Melissa Yana, Hamroun, Dalil, Faivre, Laurence, Boileau, Catherine, Jondeau, Guillaume, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle

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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome von CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine

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Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia von Miltgen, Morgane, Blanchard, Arnaud, Mathieu, Hélène, Kreisler, Alexandre, Jean-Pierre-Desvignes, Salgado, David, Roubertie, Agathe, Barre, Laura, Rai, Ghadi, Blanck, Veronique, Frederic, Melissa, Douay, Xavier, Mazzolenni, Ronald, Charpentier, Pierre, Gonzalez, Victoria, Destée, Alain, Béroud, Christophe, Collod-Béroud, Gwenaelle

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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains von Van Kien, Philippe Khau, Baux, David, Pallares-Ruiz, Nathalie, Baudoin, Corinne, Plancke, Aurélie, Chassaing, Nicolas, Collignon, Patrick, Drouin-Garraud, Valérie, Hovnanian, Alain, Martin-Coignard, Dominique, Collod-Béroud, Gwenaëlle, Béroud, Christophe, Roux, Anne-Françoise, Claustres, Mireille

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