Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
Mangin, Antoine, de Pontual, Laure, Tsai, Yu-Chih, Monteil, Laetitia, Nizon, Mathilde, Boisseau, Pierre, Mercier, Sandra, Ziegle, Janet, Harting, John, Heiner, Cheryl, Gourdon, Geneviève, Tomé, Stéphanie
Published in International journal of molecular sciences (05.03.2021)
Published in International journal of molecular sciences (05.03.2021)
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Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
Cuinat, Silvestre, Bézieau, Stéphane, Deb, Wallid, Mercier, Sandra, Vignard, Virginie, Isidor, Bertrand, Küry, Sébastien, Ebstein, Frédéric
Published in Genes & diseases (01.11.2024)
Published in Genes & diseases (01.11.2024)
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, Cances, Claude
Published in Orphanet journal of rare diseases (13.09.2024)
Published in Orphanet journal of rare diseases (13.09.2024)
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Analysis of genotype-phenotype correlations in human holoprosencephaly
Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
Vignard, Virginie, Baruteau, Alban-Elouen, Toutain, Bérénice, Mercier, Sandra, Isidor, Bertrand, Redon, Richard, Schott, Jean-Jacques, Küry, Sébastien, Bézieau, Stéphane, Monsoro-Burq, Anne H., Ebstein, Frédéric
Published in Frontiers in cell and developmental biology (12.07.2024)
Published in Frontiers in cell and developmental biology (12.07.2024)
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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome
Pacault, Mathilde, Vincent, Marie, Besnard, Thomas, Kannengiesser, Caroline, Bénéteau, Claire, Barbarot, Sébastien, Latypova, Xénia, Belabbas, Khaldia, Lamazière, Antonin, Winer, Norbert, Joubert, Madeleine, Bézieau, Stéphane, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Leclerc-Mercier, Stéphanie, Hadj-Rabia, Smail, Dufernez, Fabienne
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
Curie, Aurore, Brun, Amandine, Cheylus, Anne, Reboul, Anne, Nazir, Tatjana, Bussy, Gérald, Delange, Karine, Paulignan, Yves, Mercier, Sandra, David, Albert, Marignier, Stéphanie, Merle, Lydie, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Mortemousque, Isabelle, Toutain, Annick, Bieth, Eric, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Kong, Jian, Ott, Daniel, Kassai, Behrouz, Hadjikhani, Nouchine, Gollub, Randy L, des Portes, Vincent
Published in PloS one (26.02.2016)
Published in PloS one (26.02.2016)
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Biancalana, Valérie, Rendu, John, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent, Sacconi, Sabrina, Romero, Norma B, Marcorelles, Pascale, Authier, François Jérôme, Gelot Bernabe, Antoinette, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand, Magot, Armelle, Minot-Myhie, Marie-Christine, Péréon, Yann, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana, Laporte, Jocelyn, Fauré, Julien, Böhm, Johann
Published in Acta neuropathologica communications (17.09.2021)
Published in Acta neuropathologica communications (17.09.2021)
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Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
COGNET, Marie, NOUGAYREDE, Agnés, PHILIP, Nicole, SIGAUDY, Sabine, VERLOES, Alain, SARNAKI, Sabine, MUNNICH, Arnold, VEKEMANS, Michel, LYONNET, Stanislas, ETCHEVERS, Heather, AMIEL, Jeanne, DE PONTUAL, Loic, MALAN, Valérie, CALLIER, Patrick, CRETOLE, Celia, FAIVRE, Laurence, GENEVIEVE, David, GOLDENBERG, Alice, HERON, Delphine, MERCIER, Sandra
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Holoprosencephaly flashcards: A summary for the clinician
Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Mercier, Sandra, Raam, Manu S., Odent, Sylvie, Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K, Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B, Vohra, Jitendra, Androulakis, Alexander F.A, Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mercier, Sandra, Michaud, Maud, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, Duboc, Denis
Published in Circulation (New York, N.Y.) (23.07.2019)
Published in Circulation (New York, N.Y.) (23.07.2019)
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Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy
Guillou, Julia, de Pellegars, Alice, Porcheret, Florence, Frémeaux-Bacchi, Véronique, Allain-Launay, Emma, Debord, Camille, Denis, Manon, Péréon, Yann, Barnérias, Christine, Desguerre, Isabelle, Roussey, Gwenaëlle, Mercier, Sandra
Published in Blood advances (26.07.2022)
Published in Blood advances (26.07.2022)
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FAM111B Mutation Is Associated With Pancreatic Cancer Predisposition
Mercier, Sandra, Küry, Sébastien, Nahon, Sophie, Salort-Campana, Emmanuelle, Barbarot, Sébastien, Bézieau, Stéphane
Published in Pancreas (01.05.2019)
Published in Pancreas (01.05.2019)
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A, Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L, Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J M, Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J, Andrieux, Joris, Girirajan, Santhosh
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Marzin, Pauline, Rondeau, Sophie, Alessandri, Jean-Luc, Dieterich, Klaus, le Goff, Carine, Mahaut, Clémentine, Mercier, Sandra, Michot, Caroline, Moldovan, Oana, Miolo, Gianmaria, Rossi, Massimiliano, Van-Gils, Julien, Francannet, Christine, Robert, Matthieu P, Jaïs, Jean-Philippe, Huber, Céline, Cormier-Daire, Valerie
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, Mohammad K, Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A, Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R, Schaaf, Christian P, Wangler, Michael F, Bacino, Carlos A, Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H, Belmont, John W, Scaglia, Fernando, Orange, Jordan S, Jhangiani, Shalini N, Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M, Xia, Fan, Beaudet, Arthur L, Boerwinkle, Eric, Eng, Christine M, Plon, Sharon E, Sutton, V Reid, Gibbs, Richard A, Posey, Jennifer E, Yang, Yaping, Lupski, James R
Published in Genome medicine (21.03.2017)
Published in Genome medicine (21.03.2017)
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