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Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects
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Published in Human mutation (01.06.2018)
Published in Human mutation (01.06.2018)
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Diagnostic approach to the congenital muscular dystrophies
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Published in Neuromuscular disorders : NMD (01.04.2014)
Published in Neuromuscular disorders : NMD (01.04.2014)
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Conference Proceeding
Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome
Milleron, Olivier, Arnoult, Florence, Delorme, Gabriel, Detaint, Delphine, Pellenc, Quentin, Raffoul, Richard, Tchitchinadze, Maria, Langeois, Maud, Guien, Celine, Beroud, Christophe, Ropers, Jacques, Hanna, Nadine, Arnaud, Pauline, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume
Published in Journal of the American College of Cardiology (03.03.2020)
Published in Journal of the American College of Cardiology (03.03.2020)
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UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population
Romanet, Pauline, Mohamed, Amira, Giraud, Sophie, Odou, Marie-Françoise, North, Marie-Odile, Pertuit, Morgane, Pasmant, Eric, Coppin, Lucie, Guien, Céline, Calender, Alain, Borson-Chazot, Françoise, Béroud, Christophe, Goudet, Pierre, Barlier, Anne
Published in The journal of clinical endocrinology and metabolism (01.03.2019)
Published in The journal of clinical endocrinology and metabolism (01.03.2019)
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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Thompson, Rachel, Johnston, Louise, Taruscio, Domenica, Monaco, Lucia, Béroud, Christophe, Gut, Ivo G., Hansson, Mats G., ’t Hoen, Peter-Bram A., Patrinos, George P., Dawkins, Hugh, Ensini, Monica, Zatloukal, Kurt, Koubi, David, Heslop, Emma, Paschall, Justin E., Posada, Manuel, Robinson, Peter N., Bushby, Kate, Lochmüller, Hanns
Published in Journal of general internal medicine : JGIM (01.08.2014)
Published in Journal of general internal medicine : JGIM (01.08.2014)
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Elouej, Sahar, Beleza-Meireles, Ana, Caswell, Richard, Colclough, Kevin, Ellard, Sian, Desvignes, Jean Pierre, Béroud, Christophe, Lévy, Nicolas, Mohammed, Shehla, Desandre-Giovannoli, Annachiara
Published in Metabolism, clinical and experimental (01.06.2017)
Published in Metabolism, clinical and experimental (01.06.2017)
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Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2 , TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma
Jallades, Laurent, Baseggio, Lucile, Sujobert, Pierre, Huet, Sarah, Chabane, Kaddour, Callet-Bauchu, Evelyne, Verney, Aurélie, Hayette, Sandrine, Desvignes, Jean-Pierre, Salgado, David, Levy, Nicolas, Béroud, Christophe, Felman, Pascale, Berger, Françoise, Magaud, Jean-Pierre, Genestier, Laurent, Salles, Gilles, Traverse-Glehen, Alexandra
Published in Haematologica (Roma) (01.10.2017)
Published in Haematologica (Roma) (01.10.2017)
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Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
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
Published in Circulation (New York, N.Y.) (22.12.2009)
Published in Circulation (New York, N.Y.) (22.12.2009)
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Hox -dependent coordination of mouse cardiac progenitor cell patterning and differentiation
Stefanovic, Sonia, Laforest, Brigitte, Desvignes, Jean-Pierre, Lescroart, Fabienne, Argiro, Laurent, Maurel-Zaffran, Corinne, Salgado, David, Plaindoux, Elise, De Bono, Christopher, Pazur, Kristijan, Théveniau-Ruissy, Magali, Béroud, Christophe, Puceat, Michel, Gavalas, Anthony, Kelly, Robert G, Zaffran, Stephane
Published in eLife (17.08.2020)
Published in eLife (17.08.2020)
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UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution
Salgado, David, Desvignes, Jean-Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod-Béroud, Gwenaëlle, Béroud, Christophe
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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A mutation in the Gardos channel is associated with hereditary xerocytosis
Rapetti-Mauss, Raphael, Lacoste, Caroline, Picard, Véronique, Guitton, Corinne, Lombard, Elise, Loosveld, Marie, Nivaggioni, Vanessa, Dasilva, Nathalie, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Viout, Patrick, Bernard, Monique, Soriani, Olivier, Vinti, Henri, Lacroze, Valérie, Feneant-Thibault, Madeleine, Thuret, Isabelle, Guizouarn, Hélène, Badens, Catherine
Published in Blood (10.09.2015)
Published in Blood (10.09.2015)
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Aortic Event Rate in the Marfan Population: A Cohort Study
JONDEAU, Guillaume, DETAINT, Delphine, BEROUD, Christophe, ROY, Carine, VAHANIAN, Alec, BOILEAU, Catherine, TUBACH, Florence, ARNOULT, Florence, MILLERON, Olivier, RAOUX, Francois, DELORME, Gabriel, MIMOUN, Lea, KRAPF, Laura, HAMROUN, Dalil
Published in Circulation (New York, N.Y.) (17.01.2012)
Published in Circulation (New York, N.Y.) (17.01.2012)
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Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Körber, Friederike, Stüve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline, Maarouf, Mohammad, Coubes, Philippe, Cif, Laura
Published in Journal of the neurological sciences (15.08.2018)
Published in Journal of the neurological sciences (15.08.2018)
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The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)
Uguen, Kevin, Ka, Chandran, Collod-Béroud, Gwenaelle, Le Tertre, Marlène, Guellec, Julie, Férec, Claude, Béroud, Christophe, Callebaut, Isabelle, Le Gac, Gérald
Published in Human mutation (13.06.2023)
Published in Human mutation (13.06.2023)
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Leveraging European infrastructures to access 1 million human genomes by 2022
Saunders, Gary, Baudis, Michael, Becker, Regina, Beltran, Sergi, Béroud, Christophe, Birney, Ewan, Brooksbank, Cath, Brunak, Søren, Van den Bulcke, Marc, Drysdale, Rachel, Capella-Gutierrez, Salvador, Flicek, Paul, Florindi, Francesco, Goodhand, Peter, Gut, Ivo, Heringa, Jaap, Holub, Petr, Hooyberghs, Jef, Juty, Nick, Keane, Thomas M., Korbel, Jan O., Lappalainen, Ilkka, Leskosek, Brane, Matthijs, Gert, Mayrhofer, Michaela Th, Metspalu, Andres, Navarro, Arcadi, Newhouse, Steven, Nyrönen, Tommi, Page, Angela, Persson, Bengt, Palotie, Aarno, Parkinson, Helen, Rambla, Jordi, Salgado, David, Steinfelder, Erik, Swertz, Morris A., Valencia, Alfonso, Varma, Susheel, Blomberg, Niklas, Scollen, Serena
Published in Nature reviews. Genetics (01.11.2019)
Published in Nature reviews. Genetics (01.11.2019)
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