Contribution of retrotransposition to developmental disorders von Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders von Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha

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Clinical and genetic characterization of AP4B1‐associated SPG47 von Ebrahimi‐Fakhari, Darius, Cheng, Chi, Dies, Kira, Diplock, Amelia, Pier, Danielle B., Ryan, Conor S., Lanpher, Brendan C., Hirst, Jennifer, Chung, Wendy K., Sahin, Mustafa, Rosser, Elisabeth, Darras, Basil, Bennett, James T.

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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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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy von Handley, Mark T, Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S, Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P, Ramsahoye, Bernard H, von Kriegsheim, Alex, Taylor, Robert W, Finch, Andrew J, FitzPatrick, David R

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm von Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, Mitchison, Hannah M

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Germline retinoblastoma: estimating risk and counselling the family von Rosser, Elisabeth, Sagoo, Mandeep S

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 von Nethisinghe, Suran, Lim, Wei N, Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G, Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P, Bhatia, Kailash P, Wood, Nicholas W, Hardy, John, Polke, James M, Veneziano, Liana, Brusco, Alfredo, Davis, Mary B, Giunti, Paola

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Epidemiological and genetic considerations in retinoblastoma von Fabian, Ido Didi, Rosser, Elisabeth, Sagoo, Mandeep S

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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14 von Van Esch, Hilde, Rosser, Elisabeth M, Janssens, Sandra, Van Ingelghem, Ingrid, Loeys, Bart, Menten, Bjorn

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease von Rubinsztein, David C., Leggo, Jayne, Chiano, Mathias, Dodge, Alan, Norbury, Gail, Rosser, Elisabeth, Craufurd, David

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation von KOOLEN, David A, REARDON, William, VELTMAN, Joris A, DE VRIES, Bert B. A, ROSSER, Elisabeth M, LACOMBE, Didier, HURST, Jane A, LAW, Caroline J, BONGERS, Ernie M. H. F, VAN RAVENSWAAIJ-ARTS, Conny M, LEISINK, Martijn A. R, GEURTS VAN KESSEL, Ad

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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination von WOLF, Nicole I, CUNDALL, Maria, WOODWARD, Karen J, RUTLAND, Paul, ROSSER, Elisabeth, SURTEES, Robert, BENTON, Sarah, CHONG, Wui K, MALCOLM, Sue, EBINGER, Friedrich, BITNER-GLINDZICZ, Maria

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium von Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W

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Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London von Adlington, Katherine, Smith, James, Crabtree, Jason, Win, Soe, Rennie, Jade, Khodatars, Kuresh, Rosser, Elisabeth, Hall, Ian

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome von Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

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Erratum: 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium von Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David

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J1 Predictive testing for huntington’s disease (HD) in the UK 1994 – 2014: changes in age distribution and outcome of results von Quarrell, Oliver, Baig, Sheharyar, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium von Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David

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Contribution of retrotransposition to developmental disorders von Gardner, Eugene J, Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E, Handsaker, Juliet, Gerety, Sebastian S, Ironfield, Holly, Short, Patrick J, Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E, Clement, Emma, Lachlan, Katherine L, Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R, Firth, Helen, Hurles, Matthew E

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