Response to Johnson et al.

Por Josifova, Dragana, Wiseman, Matthew, Green, Peter
Publicado em 2010

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Por Frost, Amy R, Böhm, Sabrina V, Sewduth, Raj N, Josifova, Dragana, Ogilvie, Caroline Mackie, Izatt, Louise, Roberts, Roland G
Publicado em 2010

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms

Por McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.
Publicado no J Biol Chem (2018)

Inherited 2q23.1 microdeletions involving the MBD5 locus

Por Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
Publicado no Mol Genet Genomic Med (2017)

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Por Gregory, Louise C., Gevers, Evelien F., Baker, Joanne, Kasia, Tessa, Chong, Kling, Josifova, Dragana J., Caimari, Maria, Bilan, Frederic, McCabe, Mark J., Dattani, Mehul T.
Publicado em 2013

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Por Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.
Publicado em 2010

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

Por Gika, Artemis D, Siddiqui, Ata, Hulse, Anthony J, Edward, Selvakumari, Fallon, Penny, Mcentagart, Meriel E, Jan, Wajanat, Josifova, Dragana, Lerman-Sagie, Tally, Drummond, James, Thompson, Edward, Refetoff, Samuel, Bönnemann, Carsten G, Jungbluth, Heinz
Publicado no Dev Med Child Neurol (2009)

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

Por Garcia-Gonzalo, Francesc R., Corbit, Kevin C., Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A., Noriega, Thomas R., Seol, Allen D., Robinson, Jon F., Bennett, Christopher L., Josifova, Dragana J., García-Verdugo, José Manuel, Katsanis, Nicholas, Hildebrandt, Friedhelm, Reiter, Jeremy F.
Publicado em 2011

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Por Suri, Mohnish, Evers, Jochem M. G., Laskowski, Roman A., O'Brien, Sinead, Baker, Kate, Clayton‐Smith, Jill, Dabir, Tabib, Josifova, Dragana, Joss, Shelagh, Kerr, Bronwyn, Kraus, Alison, McEntagart, Meriel, Morton, Jenny, Smith, Audrey, Splitt, Miranda, Thornton, Janet M., Wright, Caroline F.
Publicado no Mol Genet Genomic Med (2017)

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Por Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B. G. M., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Publicado no Genet Med (2019)

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Por Carss, Keren J., Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H., Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F., Carmichael, Jenny, Chitre, Manali, Henderson, Robert H.H., Hurst, Jane, MacLaren, Robert E., Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A., Wakeling, Emma, Ouwehand, Willem H., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Raymond, F. Lucy
Publicado no Am J Hum Genet (2017)

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Por Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Publicado em 2012

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Por Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul CM, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle OJ, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R
Publicado em 2010

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Por Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R
Publicado em 2010

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado em 2014