Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
Get full text
Journal Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
Get full text
Journal Article
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
Get full text
Journal Article
Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole
Hayward, Bruce E, De Vos, Michel, Talati, Nargese, Abdollahi, M. Reza, Taylor, Graham R, Meyer, Esther, Williams, Denise, Maher, Eamonn R, Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn, Bonthron, David T
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
Get full text
Journal Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
Get full text
Journal Article
Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Next-Generation Sequencing for Simultaneous Determination of Human Papillomavirus Load, Subtype, and Associated Genomic Copy Number Changes in Tumors
Conway, Caroline, Chalkley, Rebecca, High, Alec, Maclennan, Kenneth, Berri, Stefano, Chengot, Preetha, Alsop, Melissa, Egan, Philip, Morgan, Joanne, Taylor, Graham R, Chester, John, Sen, Mehmet, Rabbitts, Pamela, Wood, Henry M
Published in The Journal of molecular diagnostics : JMD (01.03.2012)
Published in The Journal of molecular diagnostics : JMD (01.03.2012)
Get full text
Journal Article
High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq
Kondrashova, Olga, Love, Clare J, Lunke, Sebastian, Hsu, Arthur L, Waring, Paul M, Taylor, Graham R
Published in PloS one (16.11.2015)
Published in PloS one (16.11.2015)
Get full text
Journal Article
Human variome project country nodes: Documenting genetic information within a country
Patrinos, George P., Smith, Timothy D., Howard, Heather, Al-Mulla, Fahd, Chouchane, Lotfi, Hadjisavvas, Andreas, Hamed, Sherifa A., Li, Xi-Tao, Marafie, Makia, Ramesar, Rajkumar S., Ramos, Feliciano J., de Ravel, Thomy, El-Ruby, Mona O., Shrestha, Tilak Ram, Sobrido, María-Jesús, Tadmouri, Ghazi, Witsch-Baumgartner, Martina, Zilfalil, Bin Alwi, Auerbach, Arleen D., Carpenter, Kevin, Cutting, Garry R., Dung, Vu Chi, Grody, Wayne, Hasler, Julia, Jorde, Lynn, Kaput, Jim, Macek, Milan, Matsubara, Yoichi, Padilla, Carmancita, Robinson, Helen, Rojas-Martinez, Augusto, Taylor, Graham R., Vihinen, Mauno, Weber, Tom, Burn, John, Qi, Ming, Cotton, Richard G. H., Rimoin, David
Published in Human mutation (01.11.2012)
Published in Human mutation (01.11.2012)
Get full text
Journal Article
Accurately Identifying Low-Allelic Fraction Variants in Single Samples with Next-Generation Sequencing: Applications in Tumor Subclone Resolution
Stead, Lucy F., Sutton, Kate M., Taylor, Graham R., Quirke, Philip, Rabbitts, Pamela
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
Get full text
Journal Article
Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
Get full text
Journal Article
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
Wood, Henry M, Belvedere, Ornella, Conway, Caroline, Daly, Catherine, Chalkley, Rebecca, Bickerdike, Melissa, McKinley, Claire, Egan, Phil, Ross, Lisa, Hayward, Bruce, Morgan, Joanne, Davidson, Leslie, MacLennan, Ken, Ong, Thian K, Papagiannopoulos, Kostas, Cook, Ian, Adams, David J, Taylor, Graham R, Rabbitts, Pamela
Published in Nucleic acids research (01.08.2010)
Published in Nucleic acids research (01.08.2010)
Get full text
Journal Article
BRAF Inhibition in BRAFV600E-Positive Anaplastic Thyroid Carcinoma
Lim, Annette M, Taylor, Graham R, Fellowes, Andrew, Cameron, Laird, Lee, Belinda, Hicks, Rodney J, McArthur, Grant A, Angel, Christopher, Solomon, Benjamin, Rischin, Danny
Published in Journal of the National Comprehensive Cancer Network (01.03.2016)
Published in Journal of the National Comprehensive Cancer Network (01.03.2016)
Get more information
Journal Article
Genetic diagnosis of familial breast cancer using clonal sequencing
Morgan, Joanne E, Carr, Ian M, Sheridan, Eamonn, Chu, Carol E, Hayward, Bruce, Camm, Nick, Lindsay, Helen A, Mattocks, Chris J, Markham, Alexander F, Bonthron, David T, Taylor, Graham R
Published in Human mutation (01.04.2010)
Published in Human mutation (01.04.2010)
Get full text
Journal Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Published in Human molecular genetics (15.02.2012)
Published in Human molecular genetics (15.02.2012)
Get full text
Journal Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, Christine P., Parry, David A., Logan, Clare V., Laissue, Paul, Rivera, Carolina, Restrepo, Carlos Martín, Fonseca, Dora J., Morgan, Joanne E., Allanore, Yannick, Fontenay, Michaela, Wipff, Julien, Varret, Mathilde, Gibault, Laure, Dalantaeva, Nadezhda, Korbonits, Márta, Zhou, Bowen, Yuan, Gang, Harifi, Ghita, Cefle, Kivanc, Palanduz, Sukru, Akoglu, Hadim, Zwijnenburg, Petra J., Lichtenbelt, Klaske D., Aubry-Rozier, Bérengère, Superti-Furga, Andrea, Dallapiccola, Bruno, Accadia, Maria, Brancati, Francesco, Sheridan, Eamonn G., Taylor, Graham R., Carr, Ian M., Johnson, Colin A., Markham, Alexander F., Bonthron, David T.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
Get full text
Journal Article