Not logged inRecurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs .png)
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SaveWidening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyZawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel Share Save Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureCiolfi, Andrea; Aref-Eshghi, Erfan; Pizzi, Simone; Pedace, Lucia; Miele, Evelina; Kerkhof, Jennifer; Flex, Elisabetta; Martinelli, Simone; Radio, Francesca Clementina; Ruivenkamp, Claudia A. L.; Santen, Gijs W. E.; Bijlsma, Emilia; Barge-Schaapveld, Daniela; Ounap, Katrin; Siu, Victoria Mok; Kooy, R. Frank; Dallapiccola, Bruno; Sadikovic, Bekim; Tartaglia, Marco Share Save Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityDaniel, Philip B.; Morgan, Tim; Alanay, Yasemin; Bijlsma, Emilia; Cho, Tae-Joon; Cole, Trevor; Collins, Felicity; David, Albert; Devriendt, Koen; Faivre, Laurence; Ikegawa, Shiro; Jacguemont, Sebastien; Jesic, Milos; Krakow, Deborah; Liebrecht, Daniela; Maitz, Silvia; Marlin, Sandrine; Morin, Gilles; Nishikubo, Toshiya; Nishimura, Gen; Prescott, Trine; Scarano, Gioacchino; Shafeghati, Yousef; Skovby, Flemming; Tsutsumi, Seiji; Whiteford, Margo; Zenker, Martin; Robertson, Stephen P. Share Save Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsyVictorino Krepischi, Ana Cristina; Knijnenburg, Jeroen; Bertola, Debora Romeo; Kim, Chong Ae; Pearson, Peter Lees; Bijlsma, Emilia; Szuhai, Karoly; Kok, Fernando; Vianna-Morgante, Angela Maria; Rosenberg, Carla Share Save Share Save 
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