A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing

Por Ellison, Gillian, Huang, Shuwen, Carr, Hedley, Wallace, Andrew, Ahdesmaki, Miika, Bhaskar, Sanjeev, Mills, John
Publicado no BMC Clin Pathol (2015)

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

Por Daly, Sarah B., Shah, Hitesh, O'Sullivan, James, Anderson, Beverley, Bhaskar, Sanjeev, Williams, Simon, Al-Sheqaih, Nada, Mueed Bidchol, Abdul, Banka, Siddharth, Newman, William G., Girisha, Katta M.
Publicado em 2014

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

Por Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Publicado no Orphanet J Rare Dis (2016)

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Por Hanson, Dan, Murray, Philip G., O'Sullivan, James, Urquhart, Jill, Daly, Sarah, Bhaskar, Sanjeev S., Biesecker, Leslie G., Skae, Mars, Smith, Claire, Cole, Trevor, Kirk, Jeremy, Chandler, Kate, Kingston, Helen, Donnai, Dian, Clayton, Peter E., Black, Graeme C.M.
Publicado em 2011

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

Por O'Sullivan, James, Bitu, Carolina C., Daly, Sarah B., Urquhart, Jill E., Barron, Martin J., Bhaskar, Sanjeev S., Martelli-Júnior, Hercilio, dos Santos Neto, Pedro Eleuterio, Mansilla, Maria A., Murray, Jeffrey C., Coletta, Ricardo D., Black, Graeme C.M., Dixon, Michael J.
Publicado em 2011

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Por Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.
Publicado em 2012

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Por Raffan, Eleanor, Hurst, Liam A., Turki, Saeed Al, Carpenter, Gillian, Scott, Carol, Daly, Allan, Coffey, Alison, Bhaskar, Sanjeev, Howard, Eleanor, Khan, Naz, Kingston, Helen, Palotie, Aarno, Savage, David B., O'Driscoll, Mark, Smith, Claire, O'Rahilly, Stephen, Barroso, Inês, Semple, Robert K.
Publicado em 2011

Molecular findings from 537 individuals with inherited retinal disease

Por Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Publicado no J Med Genet (2016)

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Por Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bishop, Paul N., Roberts, Stephen A., Leach, Rick, Tearle, Rick, Bayliss, Stuart, Ramsden, Simon C., Nemeth, Andrea H., Black, Graeme C.M.
Publicado no Ophthalmology (2016)

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Por Smith, Miriam J., Isidor, Bertand, Beetz, Christian, Williams, Simon G., Bhaskar, Sanjeev S., Richer, Wilfrid, O'Sullivan, James, Anderson, Beverly, Daly, Sarah B., Urquhart, Jill E., Fryer, Alan, Rustad, Cecilie F., Mills, Samantha J., Samii, Amir, du Plessis, Daniel, Halliday, Dorothy, Barbarot, Sebastien, Bourdeaut, Franck, Newman, William G., Evans, D. Gareth
Publicado no Neurology (2015)

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Por Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme
Publicado em 2011

LRIG2 Mutations Cause Urofacial Syndrome

Por Stuart, Helen M., Roberts, Neil A., Burgu, Berk, Daly, Sarah B., Urquhart, Jill E., Bhaskar, Sanjeev, Dickerson, Jonathan E., Mermerkaya, Murat, Silay, Mesrur Selcuk, Lewis, Malcolm A., Olondriz, M. Beatriz Orive, Gener, Blanca, Beetz, Christian, Varga, Rita E., Gülpınar, Ömer, Süer, Evren, Soygür, Tarkan, Özçakar, Zeynep B., Yalçınkaya, Fatoş, Kavaz, Aslı, Bulum, Burcu, Gücük, Adnan, Yue, Wyatt W., Erdogan, Firat, Berry, Andrew, Hanley, Neil A., McKenzie, Edward A., Hilton, Emma N., Woolf, Adrian S., Newman, William G.
Publicado em 2013

Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

Por Frank, René A. W., McRae, Allan F., Pocklington, Andrew J., van de Lagemaat, Louie N., Navarro, Pau, Croning, Mike D. R., Komiyama, Noboru H., Bradley, Sophie J., Challiss, R. A. John, Armstrong, J. Douglas, Finn, Robert D., Malloy, Mary P., MacLean, Alan W., Harris, Sarah E., Starr, John M., Bhaskar, Sanjeev S., Howard, Eleanor K., Hunt, Sarah E., Coffey, Alison J., Ranganath, Venkatesh, Deloukas, Panos, Rogers, Jane, Muir, Walter J., Deary, Ian J., Blackwood, Douglas H., Visscher, Peter M., Grant, Seth G. N.
Publicado em 2011

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell–Defective Apoptosis and Hyperproliferation

Por Belot, Alexandre, Kasher, Paul R., Trotter, Eleanor W., Foray, Anne-Perrine, Debaud, Anne-Laure, Rice, Gillian I., Szynkiewicz, Marcin, Zabot, Marie-Therese, Rouvet, Isabelle, Bhaskar, Sanjeev S., Daly, Sarah B., Dickerson, Jonathan E., Mayer, Josephine, O’Sullivan, James, Juillard, Laurent, Urquhart, Jill E., Fawdar, Shameem, Marusiak, Anna A., Stephenson, Natalie, Waszkowycz, Bohdan, Beresford, Michael W., Biesecker, Leslie G., Black, Graeme C. M., René, Céline, Eliaou, Jean-François, Fabien, Nicole, Ranchin, Bruno, Cochat, Pierre, Gaffney, Patrick M., Rozenberg, Flore, Lebon, Pierre, Malcus, Christophe, Crow, Yanick J., Brognard, John, Bonnefoy, Nathalie
Publicado em 2013

The genetic basis of DOORS syndrome: an exome-sequencing study

Por Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D V, Begleiter, Michael L, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L, Repetto, Gabriela M, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C, Gibbs, Richard A, Lee, Brendan H, Sisodiya, Sanjay M
Publicado em 2014

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Por Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.
Publicado no Am J Hum Genet (2014)

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Por Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, Laet, Corinne De, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O’Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Publicado em 2012

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Por Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Publicado no Nat Genet (2016)