High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq

Por Kondrashova, Olga, Love, Clare J., Lunke, Sebastian, Hsu, Arthur L., Waring, Paul M., Taylor, Graham R.
Publicado no PLoS One (2015)

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Por 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
Publicado no Hum Mutat (2014)

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

Por 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
Publicado em 2009

Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens

Por 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
Publicado em 2010

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

Por 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.
Publicado em 2011

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Por 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
Publicado em 2012

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

Por 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.
Publicado em 2012

The Human Variome Project

Por Cotton, Richard G. H., Auerbach, Arleen D., Axton, Myles, Barash, Carol Isaacson, Berkovic, Samuel F., Brookes, Anthony J., Burn, John, Cutting, Garry, den Dunnen, Johan T., Flicek, Paul, Freimer, Nelson, Greenblatt, Marc S., Howard, Heather J., Katz, Michael, Macrae, Finlay A., Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Rajkumar S., Richards, Carolyn S., Seminara, Daniela, Smith, Timothy D., Sobrido, María-Jesús, Solbakk, Jan Helge, Tanzi, Rudolph E., Tavtigian, Sean V., Taylor, Graham R., Utsunomiya, Joji, Watson, Michael
Publicado em 2008

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

Por 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
Publicado em 2011

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Por 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
Publicado em 2012