Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies von Barat-Houari, Mouna, Sarrabay, Guillaume, Gatinois, Vincent, Fabre, Aurélie, Dumont, Bruno, Genevieve, David, Touitou, Isabelle

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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders von Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat‐Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos‐Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin‐Robinet, Christel, Traficante, Giovanna, Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti‐Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman‐Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 von Bögershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Hülya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin Özlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurélie, Baynam, Gareth, Sanchez, Elodie, Nürnberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valérie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nürnberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Geneviève, David, Yigit, Gökhan, Wollnik, Bernd

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders von Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

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Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling von Barat-Houari, Mouna, Baujat, Geneviève, Tran Mau Them, Frédéric, Fabre, Aurélie, Geneviève, David, Touitou, Isabelle

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Growth charts in Kabuki syndrome 1 von Ruault, Valentin, Corsini, Carole, Duflos, Claire, Akouete, Sandrine, Georgescu, Véra, Abaji, Mario, Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Amouroux, Cyril, Barat‐Houari, Mouna, Baumann, Clarisse, Bonnard, Adeline, Boursier, Guilaine, Boute, Odile, Burglen, Lydie, Busa, Tiffany, Cordier, Marie‐Pierre, Cormier‐Daire, Valérie, Delrue, Marie‐Ange, Doray, Bérénice, Faivre, Laurence, Fradin, Mélanie, Gilbert‐Dussardier, Brigitte, Giuliano, Fabienne, Goldenberg, Alice, Gorokhova, Svetlana, Héron, Delphine, Isidor, Bertrand, Jacquemont, Marie‐Line, Jacquette, Aurélia, Jeandel, Claire, Lacombe, Didier, Le Merrer, Martine, Sang, Kim Hanh Le Quan, Lyonnet, Stanislas, Manouvrier, Sylvie, Michot, Caroline, Moncla, Anne, Moutton, Sébastien, Odent, Sylvie, Pelet, Anna, Philip, Nicole, Pinson, Lucile, Reversat, Julie, Roume, Joëlle, Sanchez, Elodie, Sanlaville, Damien, Sarda, Pierre, Schaefer, Elise, Till, Marianne, Touitou, Isabelle, Toutain, Annick, Willems, Marjolaine, Gatinois, Vincent, Geneviève, David

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Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene von Rittore, Cécile, Sanchez, Elodie, Soler, Stephan, Barat-Houari, Mouna, Albers, Marieke, Obici, Laura, McDermott, Michael F, Touitou, Isabelle, Grandemange, Sylvie

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Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity von Tran Mau-Them, Frédéric, Boualam, Aurélia, Barat-Houari, Mouna, Jeandel, Claire, Cottalorda, Jérôme, Cormier-Daire, Valérie, Fabre, Aurélie, Dumont, Bruno, Lefort, Geneviève, Baujat, Geneviève, Le Merrer, Martine, Jorgensen, Christian, Touitou, Isabelle, Geneviève, David

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Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria von Khaib Dit Naib, Ouahiba, Aribi, Mourad, Idder, Aicha, Chiali, Amel, Sairi, Hakim, Touitou, Isabelle, Lefranc, Gérard, Barat-Houari, Mouna

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Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population von Vasseur, Francis, Caeyseele, Thomas, Barat-Houari, Mouna, Lobbens, Stéphane, Meirhaeghe, Aline, Meyre, David, Froguel, Philippe, Amouyel, Philippe, Helbecque, Nicole

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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid von Haghshenas, Sadegheh, Putoux, Audrey, Reilly, Jack, Levy, Michael A, Relator, Raissa, Ghosh, Sourav, Kerkhof, Jennifer, McConkey, Haley, Edery, Patrick, Lesca, Gaetan, Besson, Alicia, Coubes, Christine, Willems, Marjolaine, Ruiz-Pallares, Nathalie, Barat-Houari, Mouna, Tizzano, Eduardo F, Valenzuela, Irene, Sabbagh, Quentin, Clayton-Smith, Jill, Jackson, Adam, O'Sullivan, James, Bromley, Rebecca, Banka, Siddharth, Genevieve, David, Sadikovic, Bekim

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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid von Haghshenas, Sadegheh, Putoux, Audrey, Reilly, Jack, Levy, Michael A., Relator, Raissa, Ghosh, Sourav, Kerkhof, Jennifer, McConkey, Haley, Edery, Patrick, Lesca, Gaetan, Besson, Alicia, Coubes, Christine, Willems, Marjolaine, Ruiz-Pallares, Nathalie, Barat-Houari, Mouna, Tizzano, Eduardo F., Valenzuela, Irene, Sabbagh, Quentin, Clayton-Smith, Jill, Jackson, Adam, O’Sullivan, James, Bromley, Rebecca, Banka, Siddharth, Genevieve, David, Sadikovic, Bekim

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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective von Wells, Constance F, Boursier, Guilaine, Yauy, Kevin, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, Willems, Marjolaine

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Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis von Ruault, Valentin, Yauy, Kevin, Fabre, Aurélie, Fradin, Mélanie, Van-Gils, Julien, Angelini, Chloé, Baujat, Geneviève, Blanchet, Patricia, Cuinat, Silvestre, Isidor, Bertrand, Jorgensen, Christian, Lacombe, Didier, Moutton, Sébastien, Odent, Sylvie, Sanchez, Elodie, Sigaudy, Sabine, Touitou, Isabelle, Willems, Marjolaine, Apparailly, Florence, Geneviève, David, Barat-Houari, Mouna

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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt von Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, Genevieve, David

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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly von Sabbagh, Quentin, Tharreau, Mylène, Cenni, Camille, Sanchez, Elodie, Ruiz-Pallares, Nathalie, Alkar, Fanny, Amouroux, Cyril, David, Stéphanie, Prodhomme, Olivier, Leboucq, Nicolas, Meunier, Isabelle, Bessis, Didier, Theron, Alexandre, Barat-Houari, Mouna, Willems, Marjolaine

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein von de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature von Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, Genevieve, David

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DNA methylation episignature in Gabriele-de Vries syndrome von Cherik, Florian, Reilly, Jack, Kerkhof, Jennifer, Levy, Michael, McConkey, Haley, Barat-Houari, Mouna, Butler, Kameryn M., Coubes, Christine, Lee, Jennifer A., Le Guyader, Gwenael, Louie, Raymond J., Patterson, Wesley G., Tedder, Matthew L., Bak, Mads, Hammer, Trine Bjørg, Craigen, William, Démurger, Florence, Dubourg, Christèle, Fradin, Mélanie, Franciskovich, Rachel, Frengen, Eirik, Friedman, Jennifer, Palares, Nathalie Ruiz, Iascone, Maria, Misceo, Doriana, Monin, Pauline, Odent, Sylvie, Philippe, Christophe, Rouxel, Flavien, Saletti, Veronica, Strømme, Petter, Thulin, Perla Cassayre, Sadikovic, Bekim, Genevieve, David

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