A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

par Gupta, Ajay, Hall, Christine M, Ransley, Yvonne F, Murday, Victoria A
Publié 1995

Novel SCN5A Mutation in Amiodarone-responsive Multifocal Ventricular Ectopy-associated Cardiomyopathy

par Beckermann, Thomas M., McLeod, Karen, Murday, Victoria, Potet, Franck, George, Alfred. L.
Publié 2014

Diagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia

par Veeramani, Amith Kumar Iynapillai, Higgins, Paul, Butler, Sandra, Donaldson, Malcolm, Dougan, Elizabeth, Duncan, Roderick, Murday, Victoria, Ahmed, Syes Fasial
Publié 2009

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

par Hearle, Nicholas CM, Tomlinson, Ian, Lim, Wendy, Murday, Victoria, Swarbrick, Edwin, Lim, Guan, Phillips, Robin, Lee, Peter, O'Donohue, John, Trembath, Richard C, Morrison, Patrick J, Norman, Andrew, Taylor, Rohan, Hodgson, Shirley, Lucassen, Anneke, Houlston, Richard S
Publié 2005

X-linked cataract and Nance-Horan syndrome are allelic disorders

par Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.
Publié 2009

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

par Rea, Gillian, Homfray, Tessa, Till, Jan, Roses-Noguer, Ferran, Buchan, Rachel J., Wilkinson, Sam, Wilk, Alicja, Walsh, Roddy, John, Shibu, McKee, Shane, Stewart, Fiona J., Murday, Victoria, Taylor, Robert W., Ashworth, Michael, Baksi, A. John, Daubeney, Piers, Prasad, Sanjay, Barton, Paul J.R., Cook, Stuart A., Ware, James S.
Publié dans Cold Spring Harb Mol Case Stud (2017)

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

par Nunn, Laurence M., Lopes, Luis R., Syrris, Petros, Murphy, Cian, Plagnol, Vincent, Firman, Eileen, Dalageorgou, Chrysoula, Zorio, Esther, Domingo, Diana, Murday, Victoria, Findlay, Iain, Duncan, Alexis, Carr-White, Gerry, Robert, Leema, Bueser, Teofila, Langman, Caroline, Fynn, Simon P, Goddard, Martin, White, Anne, Bundgaard, Henning, Ferrero-Miliani, Laura, Wheeldon, Nigel, Suvarna, Simon K., O'Beirne, Aliceson, Lowe, Martin D., McKenna, William J., Elliott, Perry M., Lambiase, Pier D.
Publié dans Europace (2016)

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

par Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E
Publié 2008

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

par Burn, John, Gerdes, Anne-Marie, Macrae, Finlay, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Olschwang, Sylviane, Eccles, Diane, Evans, D Gareth, Maher, Eamonn R, Bertario, Lucio, Bisgaard, Marie-Luise, Dunlop, Malcolm G, Ho, Judy WC, Hodgson, Shirley V, Lindblom, Annika, Lubinski, Jan, Morrison, Patrick J, Murday, Victoria, Ramesar, Raj, Side, Lucy, Scott, Rodney J, Thomas, Huw JW, Vasen, Hans F, Barker, Gail, Crawford, Gillian, Elliott, Faye, Movahedi, Mohammad, Pylvanainen, Kirsi, Wijnen, Juul T, Fodde, Riccardo, Lynch, Henry T, Mathers, John C, Bishop, D Timothy
Publié 2011

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

par Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
Publié 2014

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

par Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R
Publié dans J Med Genet (2018)