Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans von Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P, Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F, Blankenstein, Oliver, Procter, Annie M, Dimitri, Paul, Wales, Jerry K H, Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W, Chen, Wei, Kokai, George K, Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A, McKee, Shane A, Niemeyer, Charlotte M, Grüters, Annette, Achermann, John C

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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature von Klaassens, Merel, Morrogh, Deborah, Rosser, Elisabeth M, Jaffer, Fatima, Vreeburg, Maaike, Bok, Levinus A, Segboer, Tim, van Belzen, Martine, Quinlivan, Ros M, Kumar, Ajith, Hurst, Jane A, Scott, Richard H

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Diagnostic implications of genetic copy number variation in epilepsy plus von Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R, Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C, Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R, Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M, Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S, Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta

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Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy von Coppola, Antonietta, Morrogh, Deborah, Farrell, Fiona, Balestrini, Simona, Hernandez-Hernandez, Laura, Krithika, S., Sander, Josemir W., Waters, Jonathan J., Sisodiya, Sanjay M.

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Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia von Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A

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Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome von Kenny, Joanna, Lees, Melissa M., Drury, Susan, Barnicoat, Angela, van’t Hoff, William, Palmer, Rodger, Morrogh, Deborah, Waters, Jonathan J., Lench, Nicholas J., Bockenhauer, Detlef

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