Primordial germ cell DNA demethylation and development require DNA translesion synthesis von Shah, Pranay, Hill, Ross, Dion, Camille, Clark, Stephen J., Abakir, Abdulkadir, Willems, Jeroen, Arends, Mark J., Garaycoechea, Juan I., Leitch, Harry G., Reik, Wolf, Crossan, Gerry P.

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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells von Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphael, Laberthonniere, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altie, Alexandre, Nguyen, Karine, Levy, Nicolas, Robin, Jerome D., Magdinier, Frederique

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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report von Gaillard, Marie-Cécile, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle Salort, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc

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Primordial germ cell DNA demethylation and development require DNA translesion synthesis von Shah, Pranay, Hill, Ross, Dion, Camille, Clark, Stephen J, Abakir, Abdulkadir, Willems, Jeroen, Arends, Mark J, Garaycoechea, Juan I, Leitch, Harry G, Reik, Wolf, Crossan, Gerry P

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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype von Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique

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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite von Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique

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1750-P: Differential Impacts of Two Novel HNF1A Variants Associated with Familial Young-Onset Diabetes on Protein Function and Insulin Secretion In Vitro von CHERKAOUI, INES, DU, QIAN, DION, CAMILLE, LEITCH, HARRY, CHABOSSEAU, PAULINE L., EGLI, DIETRICH M., SACHEDINA, DILSHAD, WASTIN, JULES, MISRA, SHIVANI, RUTTER, GUY A.

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development von Gordon, Christopher T, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J, McGowan, Ruth, Magee, Alex C, Altmüller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D, Nürnberg, Peter, Meschede, Dieter, Mühlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschké, Patrick, Ragge, Nicola, Lévy, Nicolas, Tunçbilek, Gökhan, Teo, Audrey S M, Cunningham, Michael L, Sefiani, Abdelaziz, Kayserili, Hülya, Murphy, James M, Chatdokmaiprai, Chalermpong, Hillmer, Axel M, Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas, Magdinier, Frédérique, Javed, Asif, Blewitt, Marnie E, Amiel, Jeanne, Wollnik, Bernd, Reversade, Bruno

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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers von Gaillard, Marie-Cécile, Roche, Stéphane, Dion, Camille, Tasmadjian, Armand, Bouget, Gwenaëlle, Salort-Campana, Emmanuelle, Vovan, Catherine, Chaix, Charlene, Broucqsault, Natacha, Morere, Julia, Puppo, Francesca, Bartoli, Marc, Levy, Nicolas, Bernard, Rafaëlle, Attarian, Shahram, Nguyen, Karine, Magdinier, Frédérique

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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy von Gaillard, Marie-Cécile, Broucqsault, Natacha, Morere, Julia, Laberthonnière, Camille, Dion, Camille, Badja, Cherif, Roche, Stéphane, Nguyen, Karine, Magdinier, Frédérique, Robin, Jérôme D.

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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans von Wyrwoll, Margot J., Gaasbeek, Channah M., Golubickaite, Ieva, Stakaitis, Rytis, Oud, Manon S., Nagirnaja, Liina, Dion, Camille, Sindi, Emad B., Leitch, Harry G., Jayasena, Channa N., Sironen, Anu, Dicke, Ann-Kristin, Rotte, Nadja, Stallmeyer, Birgit, Kliesch, Sabine, Grangeiro, Carlos H.P., Araujo, Thaís F., Lasko, Paul, D’Hauwers, Kathleen, Smits, Roos M., Ramos, Liliana, Xavier, Miguel J., Conrad, Don F., Almstrup, Kristian, Veltman, Joris A., Tüttelmann, Frank, van der Heijden, Godfried W.

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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism von Roche, Stéphane, Dion, Camille, Broucqsault, Natacha, Laberthonnière, Camille, Gaillard, Marie-Cécile, Robin, Jérôme D, Lagarde, Arnaud, Puppo, Francesca, Vovan, Catherine, Chaix, Charlene, Campana, Emmanuelle Salort, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Nguyen, Karine, Magdinier, Frédérique

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Differential DNA methylation of the D sub(4) Z sub(4) repeat in patients with FSHD and asymptomatic carriers von Gaillard, Marie-Cecile, Roche, Stephane, Dion, Camille, Tasmadjian, Armand, Bouget, Gwenaelle, Salort-Campana, Emmanuelle, Vovan, Catherine, Chaix, Charlene, Broucqsault, Natacha, Morere, Julia

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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite von Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Robaglia-Schlupp, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Salort-Campana, Emmanuelle, Binétruy, Bernard, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin-Ducellier, Jérôme, Magdinier, Frédérique

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Primordial germ cell DNA demethylation and development require DNA translesion synthesis von Shah, Pranay, Hill, Ross, Dion, Camille, Clark, Stephen J, Abakir, Abdulkadir, Willems, Jeroen, Arends, Mark J, Garaycoechea, Juan I, Leitch, Harry G, Reik, Wolf, Crossan, Gerry P

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Dynamiques épigénétiques du macrosatellite D4Z4 par la protéine SMCHD1 dans deux pathologies rares : exploitation du modèle IPSCs von Dion, Camille

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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells von Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique

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Additional file 1: Figure S1. of Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report von Marie-Cécile Gaillard, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc

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Additional file 3: Figure S2. of Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report von Marie-Cécile Gaillard, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc

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Additional file 2: Table S1. of Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report von Marie-Cécile Gaillard, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc

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