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

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

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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) von 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

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

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Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families von Carr, Ian M., Flintoff, Kimberley J., Taylor, Graham R., Markham, Alexander F., Bonthron, David T.

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Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole von 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

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

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

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Next-Generation Sequencing for Simultaneous Determination of Human Papillomavirus Load, Subtype, and Associated Genomic Copy Number Changes in Tumors von 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

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High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq von Kondrashova, Olga, Love, Clare J, Lunke, Sebastian, Hsu, Arthur L, Waring, Paul M, Taylor, Graham R

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MLPA and MAPH: New techniques for detection of gene deletions von Sellner, Loryn N., Taylor, Graham R.

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Accurately Identifying Low-Allelic Fraction Variants in Single Samples with Next-Generation Sequencing: Applications in Tumor Subclone Resolution von Stead, Lucy F., Sutton, Kate M., Taylor, Graham R., Quirke, Philip, Rabbitts, Pamela

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

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Human variome project country nodes: Documenting genetic information within a country von 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

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

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Genetic diagnosis of familial breast cancer using clonal sequencing von 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

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

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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis von 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.

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Next Gen Exome Sequencing Reveals Mutations in a Rare Recessive Disorder von Taylor, Graham R.

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Exploring the feasibility and utility of exome‐scale tumour sequencing in a clinical setting von Lee, Belinda, Tran, Ben, Hsu, Arthur L., Taylor, Graham R., Fox, Stephen B., Fellowes, Andrew, Marquis, Renata, Mooi, Jennifer, Desai, Jayesh, Doig, Ken, Ekert, Paul, Gaff, Clara, Herath, Dishan, Hamilton, Anne, James, Paul, Roberts, Andrew, Snyder, Ray, Waring, Paul, McArthur, Grant

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