207 results on '"Bhaskar, Sanjeev"'
Search Results
2. Supplementary Methodology 1 from Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial
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Morgan, Robert D., primary, Clamp, Andrew R., primary, White, Daniel J., primary, Price, Marcus, primary, Burghel, George J., primary, Ryder, W. David J., primary, Mahmood, Reem D., primary, Murphy, Alexander D., primary, Hasan, Jurjees, primary, Mitchell, Claire L., primary, Salih, Zena, primary, Wheeler, Chelsey, primary, Buckley, Emma, primary, Truelove, Joanna, primary, King, Georgia, primary, Ainaoui, Yasmina, primary, Bhaskar, Sanjeev S., primary, Shaw, Joseph, primary, Evans, D. Gareth R., primary, Kilerci, Bedirhan, primary, Pearce, Simon P., primary, Brady, Gerard, primary, Dive, Caroline, primary, O'Connor, James P.B., primary, Wallace, Andrew J., primary, Rothwell, Dominic G., primary, Edmondson, Richard J., primary, and Jayson, Gordon C., primary
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- 2023
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3. Supplementary Figure S3. from Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial
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Morgan, Robert D., primary, Clamp, Andrew R., primary, White, Daniel J., primary, Price, Marcus, primary, Burghel, George J., primary, Ryder, W. David J., primary, Mahmood, Reem D., primary, Murphy, Alexander D., primary, Hasan, Jurjees, primary, Mitchell, Claire L., primary, Salih, Zena, primary, Wheeler, Chelsey, primary, Buckley, Emma, primary, Truelove, Joanna, primary, King, Georgia, primary, Ainaoui, Yasmina, primary, Bhaskar, Sanjeev S., primary, Shaw, Joseph, primary, Evans, D. Gareth R., primary, Kilerci, Bedirhan, primary, Pearce, Simon P., primary, Brady, Gerard, primary, Dive, Caroline, primary, O'Connor, James P.B., primary, Wallace, Andrew J., primary, Rothwell, Dominic G., primary, Edmondson, Richard J., primary, and Jayson, Gordon C., primary
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- 2023
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4. Data from Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial
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Morgan, Robert D., primary, Clamp, Andrew R., primary, White, Daniel J., primary, Price, Marcus, primary, Burghel, George J., primary, Ryder, W. David J., primary, Mahmood, Reem D., primary, Murphy, Alexander D., primary, Hasan, Jurjees, primary, Mitchell, Claire L., primary, Salih, Zena, primary, Wheeler, Chelsey, primary, Buckley, Emma, primary, Truelove, Joanna, primary, King, Georgia, primary, Ainaoui, Yasmina, primary, Bhaskar, Sanjeev S., primary, Shaw, Joseph, primary, Evans, D. Gareth R., primary, Kilerci, Bedirhan, primary, Pearce, Simon P., primary, Brady, Gerard, primary, Dive, Caroline, primary, O'Connor, James P.B., primary, Wallace, Andrew J., primary, Rothwell, Dominic G., primary, Edmondson, Richard J., primary, and Jayson, Gordon C., primary
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- 2023
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5. Non lethal Raine syndrome and differential diagnosis
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Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E., O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S., Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad, Imane, Sbihi, Abdelhafid, Newman, William G., and Sefiani, Abdelaziz
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- 2016
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6. Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial
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Morgan, Robert D., primary, Clamp, Andrew R., additional, White, Daniel J., additional, Price, Marcus, additional, Burghel, George J., additional, Ryder, W. David J., additional, Mahmood, Reem D., additional, Murphy, Alexander D., additional, Hasan, Jurjees, additional, Mitchell, Claire L., additional, Salih, Zena, additional, Wheeler, Chelsey, additional, Buckley, Emma, additional, Truelove, Joanna, additional, King, Georgia, additional, Ainaoui, Yasmina, additional, Bhaskar, Sanjeev S., additional, Shaw, Joseph, additional, Evans, D. Gareth R., additional, Kilerci, Bedirhan, additional, Pearce, Simon P., additional, Brady, Gerard, additional, Dive, Caroline, additional, O'Connor, James P.B., additional, Wallace, Andrew J., additional, Rothwell, Dominic G., additional, Edmondson, Richard J., additional, and Jayson, Gordon C., additional
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- 2023
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7. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
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Page, Donna J., Miossec, Matthieu J., Williams, Simon G., Monaghan, Richard M., Fotiou, Elisavet, Cordell, Heather J., Sutcliffe, Louise, Topf, Ana, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Dunwoodie, Sally L., Winlaw, David S., Bhattacharya, Shoumo, Breckpot, Jeroen, Devriendt, Koenraad, Gewillig, Marc, Brook, J. David, Setchfield, Kerry J., Bu’Lock, Frances A., O’Sullivan, John, Stuart, Graham, Bezzina, Connie R., Mulder, Barbara J.M., Postma, Alex V., Bentham, James R., Baron, Martin, Bhaskar, Sanjeev S., Black, Graeme C., Newman, William G., Hentges, Kathryn E., Lathrop, G. Mark, Santibanez-Koref, Mauro, and Keavney, Bernard D.
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- 2019
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8. The genetic basis of DOORS syndrome: an exome-sequencing study
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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, and Sisodiya, Sanjay M
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- 2014
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9. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
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Ghosh, Arunabha, Schlecht, Helene, Heptinstall, Lesley E, Bassett, John K, Cartwright, Eleanor, Bhaskar, Sanjeev S, Urquhart, Jill, Broomfield, Alexander, Morris, Andrew AM, Jameson, Elisabeth, Schwahn, Bernd C, Walter, John H, Douzgou, Sofia, Murphy, Helen, Hendriksz, Chris, Sharma, Reena, Wilcox, Gisela, Crushell, Ellen, Monavari, Ardeshir A, Martin, Richard, Doolan, Anne, Senniappan, Senthil, Ramsden, Simon C, Jones, Simon A, and Banka, Siddharth
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- 2017
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10. Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
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Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, Bowers, Naomi, Clayton-Smith, Jill, and Newman, William G
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- 2015
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11. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
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Sergouniotis, Panagiotis I, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, Black, Graeme C, Lovell, Simon C, Whitby, David J, Newman, William G, and Clayton-Smith, Jill
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- 2015
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12. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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Hochberg, Irit, primary, Demain, Leigh A.M., additional, Richer, Julie, additional, Thompson, Kyle, additional, Urquhart, Jill E., additional, Rea, Alessandro, additional, Pagarkar, Waheeda, additional, Rodríguez-Palmero, Agustí, additional, Schlüter, Agatha, additional, Verdura, Edgard, additional, Pujol, Aurora, additional, Quijada-Fraile, Pilar, additional, Amberger, Albert, additional, Deutschmann, Andrea J., additional, Demetz, Sandra, additional, Gillespie, Meredith, additional, Belyantseva, Inna A., additional, McMillan, Hugh J., additional, Barzik, Melanie, additional, Beaman, Glenda M., additional, Motha, Reeya, additional, Ng, Kah Ying, additional, O’Sullivan, James, additional, Williams, Simon G., additional, Bhaskar, Sanjeev S., additional, Lawrence, Isabella R., additional, Jenkinson, Emma M., additional, Zambonin, Jessica L., additional, Blumenfeld, Zeev, additional, Yalonetsky, Sergey, additional, Oerum, Stephanie, additional, Rossmanith, Walter, additional, Yue, Wyatt W., additional, Zschocke, Johannes, additional, Munro, Kevin J., additional, Battersby, Brendan J., additional, Friedman, Thomas B., additional, Taylor, Robert W., additional, O’Keefe, Raymond T., additional, and Newman, William G., additional
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- 2021
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13. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
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Urquhart, Jill, Roberts, Rebecca, de Silva, Deepthi, Shalev, Stavit, Chervinsky, Elena, Nampoothiri, Sheela, Sznajer, Yves, Revencu, Nicole, Gunasekera, Romesh, Suri, Mohnish, Ellingford, Jamie, Williams, Simon, Bhaskar, Sanjeev, and Clayton-Smith, Jill
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- 2016
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14. The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience
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Molina‐Ramírez, Leslie P., primary, Burkitt‐Wright, Emma MM., additional, Saeed, Haroon, additional, McDermott, John H., additional, Kyle, Claire, additional, Wright, Ronnie, additional, Campbell, Christopher, additional, Bhaskar, Sanjeev S., additional, Taylor, Algy, additional, Dutton, Laura, additional, Forde, Claire, additional, Metcalfe, Kay, additional, Smith, Audrey, additional, Clayton‐Smith, Jill, additional, Douzgou, Sofia, additional, Chandler, Kate, additional, Briggs, Tracy A., additional, Banka, Siddharth, additional, Newman, William G., additional, Gokhale, David, additional, Bruce, Iain A., additional, and Black, Graeme C., additional
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- 2021
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15. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
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Molina-Ramírez, Leslie Patricia, primary, Kyle, Claire, additional, Ellingford, Jamie M, additional, Wright, Ronnie, additional, Taylor, Algy, additional, Bhaskar, Sanjeev S, additional, Campbell, Christopher, additional, Jackson, Harriet, additional, Fairclough, Adele, additional, Rousseau, Abigail, additional, Burghel, George J, additional, Dutton, Laura, additional, Banka, Siddharth, additional, Briggs, Tracy A, additional, Clayton-Smith, Jill, additional, Douzgou, Sofia, additional, Jones, Elizabeth A, additional, Kingston, Helen M, additional, Kerr, Bronwyn, additional, Ealing, John, additional, Somarathi, Suresh, additional, Chandler, Kate E, additional, Stuart, Helen M, additional, Burkitt-Wright, Emma MM, additional, Newman, William G, additional, Bruce, Iain A, additional, Black, Graeme C, additional, and Gokhale, David, additional
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- 2021
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16. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation
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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, OSullivan, 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, and Bonnefoy, Nathalie
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- 2013
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17. Autozygosity Mapping with Exome Sequence Data
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Carr, Ian M., Bhaskar, Sanjeev, Oʼ Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, and Alkuraya, Fowzan S.
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- 2013
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18. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
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OʼSullivan, James, Mullaney, Brendan G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Hall, Georgina, OʼGrady, Anna, Webster, Andrew, Ramsden, Simon C, and Black, Graeme C
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- 2012
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19. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
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Craddock, Nick, Hurles, Matthew E., Cardin, Niall, Pearson, Richard D., Plagnol, Vincent, Robson, Samuel, Vukcevic, Damjan, Barnes, Chris, Conrad, Donald F., Giannoulatou, Eleni, Holmes, Chris, Marchini, Jonathan L., Stirrups, Kathy, Tobin, Martin D., Wain, Louise V., Yau, Chris, Aerts, Jan, Ahmad, Tariq, Daniel Andrews, T., Arbury, Hazel, Attwood, Anthony, Auton, Adam, Ball, Stephen G., Balmforth, Anthony J., Barrett, Jeffrey C., Barroso, Inês, Barton, Anne, Bennett, Amanda J., Bhaskar, Sanjeev, Blaszczyk, Katarzyna, Bowes, John, Brand, Oliver J., Braund, Peter S., Bredin, Francesca, Breen, Gerome, Brown, Morris J., Bruce, Ian N., Bull, Jaswinder, Burren, Oliver S., Burton, John, Byrnes, Jake, Caesar, Sian, Clee, Chris M., Coffey, Alison J., Connell, John M. C., Cooper, Jason D., Dominiczak, Anna F., Downes, Kate, Drummond, Hazel E., Dudakia, Darshna, Dunham, Andrew, Ebbs, Bernadette, Eccles, Diana, Edkins, Sarah, Edwards, Cathryn, Elliot, Anna, Emery, Paul, Evans, David M., Evans, Gareth, Eyre, Steve, Farmer, Anne, Nicol Ferrier, I., Feuk, Lars, Fitzgerald, Tomas, Flynn, Edward, Forbes, Alistair, Forty, Liz, Franklyn, Jayne A., Freathy, Rachel M., Gibbs, Polly, Gilbert, Paul, Gokumen, Omer, Gordon-Smith, Katherine, Gray, Emma, Green, Elaine, Groves, Chris J., Grozeva, Detelina, Gwilliam, Rhian, Hall, Anita, Hammond, Naomi, Hardy, Matt, Harrison, Pile, Hassanali, Neelam, Hebaishi, Husam, Hines, Sarah, Hinks, Anne, Hitman, Graham A, Hocking, Lynne, Howard, Eleanor, Howard, Philip, Howson, Joanna M. M., Hughes, Debbie, Hunt, Sarah, Isaacs, John D., Jain, Mahim, Jewell, Derek P., Johnson, Toby, Jolley, Jennifer D., Jones, Ian R., Jones, Lisa A., Kirov, George, Langford, Cordelia F., Lango-Allen, Hana, Mark Lathrop, G., Lee, James, Lee, Kate L., Lees, Charlie, Lewis, Kevin, Lindgren, Cecilia M., Maisuria-Armer, Meeta, Maller, Julian, Mansfield, John, Martin, Paul, Massey, Dunecan C. O., McArdle, Wendy L., McGuffin, Peter, McLay, Kirsten E., Mentzer, Alex, Mimmack, Michael L., Morgan, Ann E., Morris, Andrew P., Mowat, Craig, Myers, Simon, Newman, William, Nimmo, Elaine R., O’Donovan, Michael C., Onipinla, Abiodun, Onyiah, Ifejinelo, Ovington, Nigel R., Owen, Michael J., Palin, Kimmo, Parnell, Kirstie, Pernet, David, Perry, John R. B., Phillips, Anne, Pinto, Dalila, Prescott, Natalie J., Prokopenko, Inga, Quail, Michael A., Rafelt, Suzanne, Rayner, Nigel W., Redon, Richard, Reid, David M., Renwick, Anthony, Ring, Susan M., Robertson, Neil, Russell, Ellie, St Clair, David, Sambrook, Jennifer G., Sanderson, Jeremy D., Schuilenburg, Helen, Scott, Carol E., Scott, Richard, Seal, Sheila, Shaw-Hawkins, Sue, Shields, Beverley M., Simmonds, Matthew J., Smyth, Debbie J., Somaskantharajah, Elilan, Spanova, Katarina, Steer, Sophia, Stephens, Jonathan, Stevens, Helen E., Stone, Millicent A., Su, Zhan, Symmons, Deborah P. M., Thompson, John R., Thomson, Wendy, Travers, Mary E., Turnbull, Clare, Valsesia, Armand, Walker, Mark, Walker, Neil M., Wallace, Chris, Warren-Perry, Margaret, Watkins, Nicholas A., Webster, John, Weedon, Michael N., Wilson, Anthony G., Woodburn, Matthew, Wordsworth, Paul B., Young, Allan H., Zeggini, Eleftheria, Carter, Nigel P., Frayling, Timothy M., Lee, Charles, McVean, Gil, Munroe, Patricia B., Palotie, Aarno, Sawcer, Stephen J., Scherer, Stephen W., Strachan, David P., Tyler-Smith, Chris, Brown, Matthew A., Burton, Paul R., Caulfield, Mark J., Compston, Alastair, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Mathew, Christopher G., Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R., Worthington, Jane, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Rahman, Nazneen, Todd, John A., Samani, Nilesh J., and Donnelly, Peter
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- 2010
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20. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
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Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, and Gokhale, David
- Abstract
PurposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vast array of different rare monogenic disorders. We have assessed a clinician-led and phenotype-based approach for virtual gene panel generation for analysis of targeted CES in patients with rare disease in a single institution.MethodsRetrospective survey of 400 consecutive cases presumed by clinicians to have rare monogenic disorders, referred on singleton basis for targeted CES. We evaluated diagnostic yield and variant workload to characterise the usefulness of a clinician-led approach for generation of virtual gene panels that can incorporate up to three different phenotype-driven gene selection methods.ResultsAbnormalities of the nervous system (54.5%), including intellectual disability, head and neck (19%), skeletal system (16%), ear (15%) and eye (15%) were the most common clinical features reported in referrals. Combined phenotype-driven strategies for virtual gene panel generation were used in 57% of cases. On average, 7.3 variants (median=5) per case were retained for clinical interpretation. The overall diagnostic rate of proband-only CES using personalised phenotype-driven virtual gene panels was 24%.ConclusionsOur results show that personalised virtual gene panels are a cost-effective approach for variant analysis of CES, maintaining diagnostic yield and optimising the use of resources for clinical genomic sequencing in the clinic.
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- 2022
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21. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
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Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy FL, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme CM, Ellingford, Jamie M [0000-0003-1137-9768], and Apollo - University of Cambridge Repository
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DNA Copy Number Variations ,High-Throughput Nucleotide Sequencing ,Membrane Proteins ,Ribonucleoproteins, Small Nuclear ,Workflow ,Cytoskeletal Proteins ,copy-number variation ,Gene Frequency ,inherited retinal disease ,Gene Duplication ,parasitic diseases ,molecular genetics ,Retinal Dystrophies ,Humans ,next-generation sequencing ,Genetic Predisposition to Disease ,Algorithms ,Adaptor Proteins, Signal Transducing - Abstract
Background Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD. Methods Three read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering. CNV events were confirmed and reported to referring clinicians through an accredited diagnostic laboratory. Results We confirmed the presence of 33 deletions and 11 duplications, determining these findings to contribute to the confirmed or provisional molecular diagnosis of IRD for 25 individuals. We show that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis, and determined a positive predictive value of 79% for the employed CNV filtering techniques. Conclusion Incorporation of CNV analysis increases diagnostic yield of gene panel NGS diagnostic tests for IRD, increases clarity in diagnostic reporting and expands the spectrum of known disease-causing mutations.
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- 2018
22. A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
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Beaman, Glenda M., primary, Galatà, Gabriella, additional, Teik, Keng W., additional, Urquhart, Jill E., additional, Aishah, Ali, additional, O'Sullivan, James, additional, Bhaskar, Sanjeev S., additional, Wood, Katherine A., additional, Thomas, Huw B., additional, O'Keefe, Raymond T., additional, Woolf, Adrian S., additional, Stuart, Helen M., additional, and Newman, William G., additional
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- 2019
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23. A deep intronic SMARCB1 variant associated with schwannomatosis
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Smith, Miriam J., primary, Bowers, Naomi L., additional, Banks, Catherine, additional, Coates‐Brown, Rosanna, additional, Morris, Katrina A., additional, Ewans, Lisa, additional, Wilson, Meredith, additional, Pinner, Jason, additional, Bhaskar, Sanjeev S., additional, Cammarata‐Scalisi, Francisco, additional, Wallace, Andrew J., additional, and Evans, Daffyd Gareth R., additional
- Published
- 2019
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24. C Identification of the major genetic contributors to tetralogy of fallot
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Page, Donna J, primary, Miossec, Matthieu J, additional, Williams, Simon G, additional, Monaghan, Richard M, additional, Fotiou, Elisavet, additional, Cordell, Heather J, additional, Sutcliffe, Louise, additional, Topf, Ana, additional, Bourgey, Mathieu, additional, Bourque, Guillaume, additional, Eveleigh, Robert, additional, Dunwoodie, Sally L, additional, Winlaw, David S, additional, Bhattacharya, Shoumo, additional, Breckpot, Jeroen, additional, Devriendt, Koenraad, additional, Gewillig, Marc, additional, Brook, David, additional, Setchfield, Kerry, additional, Bu’Lock, Frances A, additional, O’Sullivan, John, additional, Stuart, Graham, additional, Bezzina, Connie, additional, Mulder, Barbara JM, additional, Postma, Alex V, additional, Bentham, James R, additional, Baron, Martin, additional, Bhaskar, Sanjeev S, additional, Black, Graeme C, additional, Newman, William G, additional, Hentges, Kathryn E, additional, Lathrop, Mark, additional, Santibanez-Koref, Mauro, additional, and Keavney, Bernard D, additional
- Published
- 2019
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25. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
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Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y. T., Mcgowan, Ruth, Des Medt, Maryse, O'Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Study, Ddd, Woolf, Adrian S., Banka, Siddharth, University of Manchester [Manchester], Regional Genetic Service, St Mary's Hospital, Manchester, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Center for Medical Genetics [Ghent], Ghent University Hospital, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Guy's Hospital [London], Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Nottingham City Hospital, Western Sydney University (UWS), University of British Columbia (UBC), Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), University of Edinburgh, Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Department of Clinical Genetics, Leicester Royal Infirmary, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sheffield Children's Hospital, CHU Clermont-Ferrand, CHU de Lille, Genetic Health Services Victoria, Innsbruck Medical University [Austria] (IMU), University Hospitals of Leicester, University of Melbourne, Victorian Clinical Genetics Services, University of Northern British Columbia (UNBC), Hamad Bin Khalifa University (HBKU), The Wellcome Trust Sanger Institute [Cambridge], L002744/1, Medical Research Council UK, Central Manchester University Hospitals NHS Foundation Trust, Kidney Research UK, NIHR, Academy of Medical Sciences, 16-17/10, Newlife Foundation, 629396, Kabuki Research Fund, Wellcome Trust, HICF-1009-003, Health Innovation Challenge Fund, WT098051, Wellcome Trust Sanger Institute, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Western Sydney University, Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], University Hospitals Leicester-University Hospitals Leicester, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Sheffield Children's NHS Foundation Trust, University Hospitals Leicester, University of Northern British Columbia [Prince George] (UNBC), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Innsbruck Medical University = Medizinische Universität Innsbruck (IMU)
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DYNAMICS ,Male ,Developmental Disabilities ,CYTOSKELETON ,Haploinsufficiency ,Mice ,Medicine and Health Sciences ,RNA, Small Interfering ,Child ,Frameshift Mutation ,developmental disorder ,ARCHITECTURE ,Cell Cycle ,Coloboma ,Malformations of Cortical Development ,Codon, Nonsense ,Child, Preschool ,DELAY ,malformations ,Female ,RNA Interference ,Abnormalities ,Multiple ,Adult ,Adolescent ,Small Interfering ,Young Adult ,WINTER CEREBROFRONTOFACIAL SYNDROME ,Report ,Intellectual Disability ,Humans ,Animals ,Abnormalities, Multiple ,MALFORMATIONS ,β-actin ,Preschool ,Codon ,Aged ,Cell Proliferation ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Infant, Newborn ,Biology and Life Sciences ,Infant ,Facies ,ACTB ,Newborn ,NUCLEAR ACTIN ,Actins ,BETA-ACTIN ,Nonsense ,DE-NOVO MUTATIONS ,MECHANICS ,chromatin ,RNA ,Gene Deletion - Abstract
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, β-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic β-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, β-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development. ispartof: American Journal of Human Genetics vol:101 issue:6 pages:1021-1033 ispartof: location:United States status: published
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- 2017
26. Molecular findings from 537 individuals with inherited retinal disease
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Ellingford, Jamie, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon, Lamb, Janine, Panda, Binay, Sergouniotis, Panagiotis, Gillespie, Rachel, Daiger, Stephen, Hall, Georgina, Gale, Theodora, Lloyd, Christopher, Bishop, Paul, Ramsden, Simon, and Black, Graeme
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parasitic diseases - Abstract
Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide.Methods We present the molecular findings of 537 individuals referred to a 105-gene diagnostic NGS test for IRDs. We assess the diagnostic yield, the spectrum of clinical referrals, the variant analysis burden and the genetic heterogeneity of IRD. We retrospectively analyse disease-causing variants, including an assessment of variant frequency in Exome Aggregation Consortium (ExAC).Results Individuals were referred from 10 clinically distinct classifications of IRD. Of the 4542 variants clinically analysed, we have reported 402 mutations as a cause or a potential cause of disease in 62 of the 105 genes surveyed. These variants account or likely account for the clinical diagnosis of IRD in 51% of the 537 referred individuals. 144 potentially disease-causing mutations were identified as novel at the time of clinical analysis, and we further demonstrate the segregation of known disease-causing variants among individuals with IRD. We show that clinically analysed variants indicated as rare in dbSNP and the Exome Variant Server remain rare in ExAC, and that genes discovered as a cause of IRD in the post-NGS era are rare causes of IRD in a population of clinically surveyed individuals.Conclusions Our findings illustrate the continued powerful utility of custom-gene panel diagnostic NGS tests for IRD in the clinic, but suggest clear future avenues for increasing diagnostic yields.
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- 2016
27. Deleterious genetic variants inNOTCH1are a major contributor to the incidence of non-syndromic Tetralogy of Fallot
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Page, Donna J., primary, Miossec, Matthieu J., additional, Williams, Simon G., additional, Fotiou, Elisavet, additional, Monaghan, Richard M., additional, Cordell, Heather J., additional, Sutcliffe, Louise, additional, Topf, Ana, additional, Bourgey, Mathieu, additional, Bourque, Guillaume, additional, Eveleigh, Robert, additional, Dunwoodie, Sally L., additional, Winlaw, David S., additional, Bhattacharya, Shoumo, additional, Breckpot, Jeroen, additional, Devriendt, Koenraad, additional, Gewillig, Marc, additional, Brook, David, additional, Setchfield, Kerry, additional, Bu’Lock, Frances A., additional, O’Sullivan, John, additional, Stuart, Graham, additional, Bezzina, Connie, additional, Mulder, Barbara J.M., additional, Postma, Alex V., additional, Bentham, James R., additional, Baron, Martin, additional, Bhaskar, Sanjeev S., additional, Black, Graeme C., additional, Newman, William G., additional, Hentges, Kathryn E., additional, Lathrop, Mark, additional, Santibanez-Koref, Mauro, additional, and Keavney, Bernard D., additional
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- 2018
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28. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
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Ellingford, Jamie M, primary, Horn, Bradley, additional, Campbell, Christopher, additional, Arno, Gavin, additional, Barton, Stephanie, additional, Tate, Catriona, additional, Bhaskar, Sanjeev, additional, Sergouniotis, Panagiotis I, additional, Taylor, Rachel L, additional, Carss, Keren J, additional, Raymond, Lucy F L, additional, Michaelides, Michel, additional, Ramsden, Simon C, additional, Webster, Andrew R, additional, and Black, Graeme C M, additional
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- 2017
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29. Additional file 1: of The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
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Sergouniotis, Panagiotis, Barton, Stephanie, Waller, Sarah, Rahat Perveen, Ellingford, Jamie, Campbell, Christopher, Hall, Georgina, Gillespie, Rachel, Bhaskar, Sanjeev, Ramsden, Simon, Black, Graeme, and Lovell, Simon
- Abstract
Table S1. Genes and transcripts included in multigene panel tests for retinal dystrophy and childhood cataracts. Table S2. Clinical and in silico evaluation of small (⠤21 nucleotides) in-frame insertions/deletions identified by panel-based genetic diagnostic testing in 486 probands with retinal dystrophy and 181 probands with childhood cataract. Table S3. Previously reported disease-associated small in-frame insertions/deletions in genes found to have clinically reported variants in the present study. (PDF 241 kb)
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- 2016
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30. A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency
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Hochberg, Irit, primary, Demain, Leigh A. M., additional, Urquhart, Jill E., additional, Amberger, Albert, additional, Deutschmann, Andrea J., additional, Demetz, Sandra, additional, Thompson, Kyle, additional, O'sullivan, James, additional, Belyantseva, Inna A., additional, Barzik, Melanie, additional, Williams, Simon G., additional, Bhaskar, Sanjeev S., additional, Jenkinson, Emma M., additional, AlSheqaih, Nada, additional, Blumenfeld, Zeev, additional, Yalonetsky, Sergey, additional, Oerum, Stephanie, additional, Rossmanith, Walter, additional, Yue, Wyatt W., additional, Zschocke, Johannes, additional, Taylor, Robert W., additional, Friedman, Thomas B., additional, Munro, Kevin J., additional, O'Keefe, Raymond T., additional, and Newman, William G., additional
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- 2017
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31. Validation of copy number variation analysis for next-generation sequencing diagnostics
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Ellingford, Jamie M, primary, Campbell, Christopher, additional, Barton, Stephanie, additional, Bhaskar, Sanjeev, additional, Gupta, Saurabh, additional, Taylor, Rachel L, additional, Sergouniotis, Panagiotis I, additional, Horn, Bradley, additional, Lamb, Janine A, additional, Michaelides, Michel, additional, Webster, Andrew R, additional, Newman, William G, additional, Panda, Binay, additional, Ramsden, Simon C, additional, and Black, Graeme CM, additional
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- 2017
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32. Homozygous mutation inPTRH2gene causes progressive sensorineural deafness and peripheral neuropathy
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Sharkia, Rajech, primary, Shalev, Stavit A., additional, Zalan, Abdelnaser, additional, Marom-David, Milit, additional, Watemberg, Nathan, additional, Urquhart, Jill E., additional, Daly, Sarah B., additional, Bhaskar, Sanjeev S., additional, Williams, Simon G., additional, Newman, William G., additional, Spiegel, Ronen, additional, Azem, Abdussalam, additional, Elpeleg, Orly, additional, and Mahajnah, Muhammad, additional
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- 2017
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33. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional
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- 2017
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34. Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
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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., and Girisha, Katta M.
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Original Article - Abstract
Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the distal limb joints without a neuromuscular disease. Mutations in at least 8 different genes have been shown to cause DA. Here, we report a 4-generation Indian family with 18 affected members presenting variable features of camptodactyly, brachydactyly, syndactyly, decreased flexion palmar creases, ulnar deviation of the hands, sandal gaps and club feet. We undertook exome sequencing of 3 distantly related affected individuals. Bioinformatics filtering revealed a known pathogenic missense mutation c.188G>A (p.Arg63His) in TNNT3 in all 3 affected individuals that segregated with the phenotype. The affected individuals exhibit significant phenotypic variability. This study demonstrates the value of exome sequencing helping to define the causative variant in genetically heterogeneous disorders.
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- 2014
35. The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
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Sergouniotis, Panagiotis I., primary, Barton, Stephanie J., additional, Waller, Sarah, additional, Perveen, Rahat, additional, Ellingford, Jamie M., additional, Campbell, Christopher, additional, Hall, Georgina, additional, Gillespie, Rachel L., additional, Bhaskar, Sanjeev S., additional, Ramsden, Simon C., additional, Black, Graeme C., additional, and Lovell, Simon C., additional
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- 2016
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36. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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Jenkinson, Emma M, primary, Rodero, Mathieu P, additional, Kasher, Paul R, additional, Uggenti, Carolina, additional, Oojageer, Anthony, additional, Goosey, Laurence C, additional, Rose, Yoann, additional, Kershaw, Christopher J, additional, Urquhart, Jill E, additional, Williams, Simon G, additional, Bhaskar, Sanjeev S, additional, O'Sullivan, James, additional, Baerlocher, Gabriela M, additional, Haubitz, Monika, additional, Aubert, Geraldine, additional, Barañano, Kristin W, additional, Barnicoat, Angela J, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward M, additional, Brunstrom-Hernandez, Janice E, additional, Buckard, Johannes A, additional, Cassiman, David M, additional, Caumes, Rosaline, additional, Cordelli, Duccio M, additional, De Waele, Liesbeth M, additional, Fay, Alexander J, additional, Ferreira, Patrick, additional, Fletcher, Nicholas A, additional, Fryer, Alan E, additional, Goel, Himanshu, additional, Hemingway, Cheryl A, additional, Henneke, Marco, additional, Hughes, Imelda, additional, Jefferson, Rosalind J, additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre G, additional, Lourenço, Charles M, additional, Malpas, Timothy J, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Naidu, Sakkubai, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Prabhakar, Prab, additional, Quaghebeur, Gerardine, additional, Schiffmann, Raphael, additional, Sherr, Elliott H, additional, Sinnathuray, Kanaga R, additional, Soh, Calvin, additional, Stewart, Helen S, additional, Stone, John, additional, Van Esch, Hilde, additional, Van Mol, Christine E G, additional, Vanderver, Adeline, additional, Wakeling, Emma L, additional, Whitney, Andrea, additional, Pavitt, Graham D, additional, Griffiths-Jones, Sam, additional, Rice, Gillian I, additional, Revy, Patrick, additional, van der Knaap, Marjo S, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Crow, Yanick J, additional
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- 2016
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37. Molecular findings from 537 individuals with inherited retinal disease
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Ellingford, Jamie M, primary, Barton, Stephanie, additional, Bhaskar, Sanjeev, additional, O'Sullivan, James, additional, Williams, Simon G, additional, Lamb, Janine A, additional, Panda, Binay, additional, Sergouniotis, Panagiotis I, additional, Gillespie, Rachel L, additional, Daiger, Stephen P, additional, Hall, Georgina, additional, Gale, Theodora, additional, Lloyd, I Christopher, additional, Bishop, Paul N, additional, Ramsden, Simon C, additional, and Black, Graeme C M, additional
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- 2016
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38. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
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Bodea, Corneliu A., primary, Neale, Benjamin M., additional, Ripke, Stephan, additional, Daly, Mark J., additional, Devlin, Bernie, additional, Roeder, Kathryn, additional, Barclay, Murray, additional, Peyrin-Biroulet, Laurent, additional, Chamaillard, Mathias, additional, Colombel, Jean-Frederick, additional, Cottone, Mario, additional, Croft, Anthony, additional, D’Incà, Renata, additional, Halfvarson, Jonas, additional, Hanigan, Katherine, additional, Henderson, Paul, additional, Hugot, Jean-Pierre, additional, Karban, Amir, additional, Kennedy, Nicholas A., additional, Khan, Mohammed Azam, additional, Lémann, Marc, additional, Levine, Arie, additional, Massey, Dunecan, additional, Milla, Monica, additional, Montgomery, Grant W., additional, Ng, Sok Meng Evelyn, additional, Oikonomou, Ioannis, additional, Peeters, Harald, additional, Proctor, Deborah D., additional, Rahier, Jean-Francois, additional, Roberts, Rebecca, additional, Rutgeerts, Paul, additional, Seibold, Frank, additional, Stronati, Laura, additional, Taylor, Kirstin M., additional, Törkvist, Leif, additional, Ublick, Kullak, additional, Van Limbergen, Johan, additional, Van Gossum, Andre, additional, Vatn, Morten H., additional, Zhang, Hu, additional, Zhang, Wei, additional, Andrews, Jane M., additional, Bampton, Peter A., additional, Florin, Timothy H., additional, Gearry, Richard, additional, Krishnaprasad, Krupa, additional, Lawrance, Ian C., additional, Mahy, Gillian, additional, Radford-Smith, Graham, additional, Roberts, Rebecca L., additional, Simms, Lisa A., additional, Amininijad, Leila, additional, Cleynen, Isabelle, additional, Dewit, Olivier, additional, Franchimont, Denis, additional, Georges, Michel, additional, Laukens, Debby, additional, Theatre, Emilie, additional, Van Gossum, André, additional, Vermeire, Severine, additional, Aumais, Guy, additional, Baidoo, Leonard, additional, Barrie, Arthur M., additional, Beck, Karen, additional, Bernard, Edmond-Jean, additional, Binion, David G., additional, Bitton, Alain, additional, Brant, Steve R., additional, Cho, Judy H., additional, Cohen, Albert, additional, Croitoru, Kenneth, additional, Datta, Lisa W., additional, Deslandres, Colette, additional, Duerr, Richard H., additional, Dutridge, Debra, additional, Ferguson, John, additional, Fultz, Joann, additional, Goyette, Philippe, additional, Greenberg, Gordon R., additional, Haritunians, Talin, additional, Jobin, Gilles, additional, Katz, Seymour, additional, Lahaie, Raymond G., additional, McGovern, Dermot P., additional, Nelson, Linda, additional, Ng, Sok Meng, additional, Ning, Kaida, additional, Paré, Pierre, additional, Regueiro, Miguel D., additional, Rioux, John D., additional, Ruggiero, Elizabeth, additional, Schumm, L. Philip, additional, Schwartz, Marc, additional, Scott, Regan, additional, Sharma, Yashoda, additional, Silverberg, Mark S., additional, Spears, Denise, additional, Steinhart, A. Hillary, additional, Stempak, Joanne M., additional, Swoger, Jason M., additional, Tsagarelis, Constantina, additional, Zhang, Clarence, additional, Zhao, Hongyu, additional, Aerts, Jan, additional, Ahmad, Tariq, additional, Arbury, Hazel, additional, Attwood, Anthony, additional, Auton, Adam, additional, Ball, Stephen G., additional, Balmforth, Anthony J., additional, Barnes, Chris, additional, Barrett, Jeffrey C., additional, Barroso, Inês, additional, Barton, Anne, additional, Bennett, Amanda J., additional, Bhaskar, Sanjeev, additional, Blaszczyk, Katarzyna, additional, Bowes, John, additional, Brand, Oliver J., additional, Braund, Peter S., additional, Bredin, Francesca, additional, Breen, Gerome, additional, Brown, Morris J., additional, Bruce, Ian N., additional, Bull, Jaswinder, additional, Burren, Oliver S., additional, Burton, John, additional, Byrnes, Jake, additional, Caesar, Sian, additional, Cardin, Niall, additional, Clee, Chris M., additional, Coffey, Alison J., additional, Connell, John M.C., additional, Conrad, Donald F., additional, Cooper, Jason D., additional, Dominiczak, Anna F., additional, Downes, Kate, additional, Drummond, Hazel E., additional, Dudakia, Darshna, additional, Dunham, Andrew, additional, Ebbs, Bernadette, additional, Eccles, Diana, additional, Edkins, Sarah, additional, Edwards, Cathryn, additional, Elliot, Anna, additional, Emery, Paul, additional, Evans, David M., additional, Evans, Gareth, additional, Eyre, Steve, additional, Farmer, Anne, additional, Ferrier, Nicol, additional, Flynn, Edward, additional, Forbes, Alistair, additional, Forty, Liz, additional, Franklyn, Jayne A., additional, Frayling, Timothy M., additional, Freathy, Rachel M., additional, Giannoulatou, Eleni, additional, Gibbs, Polly, additional, Gilbert, Paul, additional, Gordon-Smith, Katherine, additional, Gray, Emma, additional, Green, Elaine, additional, Groves, Chris J., additional, Grozeva, Detelina, additional, Gwilliam, Rhian, additional, Hall, Anita, additional, Hammond, Naomi, additional, Hardy, Matt, additional, Harrison, Pile, additional, Hassanali, Neelam, additional, Hebaishi, Husam, additional, Hines, Sarah, additional, Hinks, Anne, additional, Hitman, Graham A., additional, Hocking, Lynne, additional, Holmes, Chris, additional, Howard, Eleanor, additional, Howard, Philip, additional, Howson, Joanna M.M., additional, Hughes, Debbie, additional, Hunt, Sarah, additional, Isaacs, John D., additional, Jain, Mahim, additional, Jewell, Derek P., additional, Johnson, Toby, additional, Jolley, Jennifer D., additional, Jones, Ian R., additional, Jones, Lisa A., additional, Kirov, George, additional, Langford, Cordelia F., additional, Lango-Allen, Hana, additional, Lathrop, G. Mark, additional, Lee, James, additional, Lee, Kate L., additional, Lees, Charlie, additional, Lewis, Kevin, additional, Lindgren, Cecilia M., additional, Maisuria-Armer, Meeta, additional, Maller, Julian, additional, Mansfield, John, additional, Marchini, Jonathan L., additional, Martin, Paul, additional, Massey, Dunecan C.O., additional, McArdle, Wendy L., additional, McGuffin, Peter, additional, McLay, Kirsten E., additional, McVean, Gil, additional, Mentzer, Alex, additional, Mimmack, Michael L., additional, Morgan, Ann E., additional, Morris, Andrew P., additional, Mowat, Craig, additional, Munroe, Patricia B., additional, Myers, Simon, additional, Newman, William, additional, Nimmo, Elaine R., additional, O’Donovan, Michael C., additional, Onipinla, Abiodun, additional, Ovington, Nigel R., additional, Owen, Michael J., additional, Palin, Kimmo, additional, Palotie, Aarno, additional, Parnell, Kirstie, additional, Pearson, Richard, additional, Pernet, David, additional, Perry, John R.B., additional, Phillips, Anne, additional, Plagnol, Vincent, additional, Prescott, Natalie J., additional, Prokopenko, Inga, additional, Quail, Michael A., additional, Rafelt, Suzanne, additional, Rayner, Nigel W., additional, Reid, David M., additional, Renwick, Anthony, additional, Ring, Susan M., additional, Robertson, Neil, additional, Robson, Samuel, additional, Russell, Ellie, additional, St Clair, David, additional, Sambrook, Jennifer G., additional, Sanderson, Jeremy D., additional, Sawcer, Stephen J., additional, Schuilenburg, Helen, additional, Scott, Carol E., additional, Scott, Richard, additional, Seal, Sheila, additional, Shaw-Hawkins, Sue, additional, Shields, Beverley M., additional, Simmonds, Matthew J., additional, Smyth, Debbie J., additional, Somaskantharajah, Elilan, additional, Spanova, Katarina, additional, Steer, Sophia, additional, Stephens, Jonathan, additional, Stevens, Helen E., additional, Stirrups, Kathy, additional, Stone, Millicent A., additional, Strachan, David P., additional, Su, Zhan, additional, Symmons, Deborah P.M., additional, Thompson, John R., additional, Thomson, Wendy, additional, Tobin, Martin D., additional, Travers, Mary E., additional, Turnbull, Clare, additional, Vukcevic, Damjan, additional, Wain, Louise V., additional, Walker, Mark, additional, Walker, Neil M., additional, Wallace, Chris, additional, Warren-Perry, Margaret, additional, Watkins, Nicholas A., additional, Webster, John, additional, Weedon, Michael N., additional, Wilson, Anthony G., additional, Woodburn, Matthew, additional, Wordsworth, B. Paul, additional, Yau, Chris, additional, Young, Allan H., additional, Zeggini, Eleftheria, additional, Brown, Matthew A., additional, Burton, Paul R., additional, Caulfield, Mark J., additional, Compston, Alastair, additional, Farrall, Martin, additional, Gough, Stephen C.L., additional, Hall, Alistair S., additional, Hattersley, Andrew T., additional, Hill, Adrian V.S., additional, Mathew, Christopher G., additional, Pembrey, Marcus, additional, Satsangi, Jack, additional, Stratton, Michael R., additional, Worthington, Jane, additional, Hurles, Matthew E., additional, Duncanson, Audrey, additional, Ouwehand, Willem H., additional, Parkes, Miles, additional, Rahman, Nazneen, additional, Todd, John A., additional, Samani, Nilesh J., additional, Kwiatkowski, Dominic P., additional, McCarthy, Mark I., additional, Craddock, Nick, additional, Deloukas, Panos, additional, Donnelly, Peter, additional, Blackwell, Jenefer M., additional, Bramon, Elvira, additional, Casas, Juan P., additional, Corvin, Aiden, additional, Jankowski, Janusz, additional, Markus, Hugh S., additional, Palmer, Colin N.A., additional, Plomin, Robert, additional, Rautanen, Anna, additional, Trembath, Richard C., additional, Viswanathan, Ananth C., additional, Wood, Nicholas W., additional, Spencer, Chris C.A., additional, Band, Gavin, additional, Bellenguez, Céline, additional, Freeman, Colin, additional, Hellenthal, Garrett, additional, Pirinen, Matti, additional, Strange, Amy, additional, Blackburn, Hannah, additional, Bumpstead, Suzannah J., additional, Dronov, Serge, additional, Gillman, Matthew, additional, Jayakumar, Alagurevathi, additional, McCann, Owen T., additional, Liddle, Jennifer, additional, Potter, Simon C., additional, Ravindrarajah, Radhi, additional, Ricketts, Michelle, additional, Waller, Matthew, additional, Weston, Paul, additional, Widaa, Sara, additional, and Whittaker, Pamela, additional
- Published
- 2016
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39. Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
- Author
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Ellingford, Jamie M., primary, Barton, Stephanie, additional, Bhaskar, Sanjeev, additional, Williams, Simon G., additional, Sergouniotis, Panagiotis I., additional, O'Sullivan, James, additional, Lamb, Janine A., additional, Perveen, Rahat, additional, Hall, Georgina, additional, Newman, William G., additional, Bishop, Paul N., additional, Roberts, Stephen A., additional, Leach, Rick, additional, Tearle, Rick, additional, Bayliss, Stuart, additional, Ramsden, Simon C., additional, Nemeth, Andrea H., additional, and Black, Graeme C.M., additional
- Published
- 2016
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40. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
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Ellingford, Jamie M., Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I., Taylor, Rachel L., Carss, Keren J., Raymond, Lucy F. L., Michaelides, Michel, Ramsden, Simon C., Webster, Andrew R., and Black, Graeme C. M.
- Abstract
Background Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD. Methods Three read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering. CNV events were confirmed and reported to referring clinicians through an accredited diagnostic laboratory. Results We confirmed the presence of 33 deletions and 11 duplications, determining these findings to contribute to the confirmed or provisional molecular diagnosis of IRD for 25 individuals. We show that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis, and determined a positive predictive value of 79% for the employed CNV filtering techniques. Conclusion I ncorporation of CNV analysis increases diagnostic yield of gene panel NGS diagnostic tests for IRD, increases clarity in diagnostic reporting and expands the spectrum of known disease-causing mutations [ABSTRACT FROM AUTHOR]
- Published
- 2018
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41. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
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Ellingford, Jamie M, primary, Sergouniotis, Panagiotis I, additional, Lennon, Rachel, additional, Bhaskar, Sanjeev, additional, Williams, Simon G, additional, Hillman, Kate A, additional, O'Sullivan, James, additional, Hall, Georgina, additional, Ramsden, Simon C, additional, Lloyd, I Christopher, additional, Woolf, Adrian S, additional, and Black, Graeme C M, additional
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- 2015
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42. A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing
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Ellison, Gillian, primary, Huang, Shuwen, additional, Carr, Hedley, additional, Wallace, Andrew, additional, Ahdesmaki, Miika, additional, Bhaskar, Sanjeev, additional, and Mills, John, additional
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- 2015
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43. Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations
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Smith, Miriam J., primary, Beetz, Christian, additional, Williams, Simon G., additional, Bhaskar, Sanjeev S., additional, O'Sullivan, James, additional, Anderson, Beverley, additional, Daly, Sarah B., additional, Urquhart, Jill E., additional, Bholah, Zaynab, additional, Oudit, Deemesh, additional, Cheesman, Edmund, additional, Kelsey, Anna, additional, McCabe, Martin G., additional, Newman, William G., additional, and Evans, D. Gareth R., additional
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- 2014
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44. Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
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Wieczorek, Dagmar, primary, Newman, William G., additional, Wieland, Thomas, additional, Berulava, Tea, additional, Kaffe, Maria, additional, Falkenstein, Daniela, additional, Beetz, Christian, additional, Graf, Elisabeth, additional, Schwarzmayr, Thomas, additional, Douzgou, Sofia, additional, Clayton-Smith, Jill, additional, Daly, Sarah B., additional, Williams, Simon G., additional, Bhaskar, Sanjeev S., additional, Urquhart, Jill E., additional, Anderson, Beverley, additional, O’Sullivan, James, additional, Boute, Odile, additional, Gundlach, Jasmin, additional, Czeschik, Johanna Christina, additional, van Essen, Anthonie J., additional, Hazan, Filiz, additional, Park, Sarah, additional, Hing, Anne, additional, Kuechler, Alma, additional, Lohmann, Dietmar R., additional, Ludwig, Kerstin U., additional, Mangold, Elisabeth, additional, Steenpaß, Laura, additional, Zeschnigk, Michael, additional, Lemke, Johannes R., additional, Lourenco, Charles Marques, additional, Hehr, Ute, additional, Prott, Eva-Christina, additional, Waldenberger, Melanie, additional, Böhmer, Anne C., additional, Horsthemke, Bernhard, additional, O’Keefe, Raymond T., additional, Meitinger, Thomas, additional, Burn, John, additional, Lüdecke, Hermann-Josef, additional, and Strom, Tim M., additional
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- 2014
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45. Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
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Gillespie, Rachel L., primary, O’Sullivan, James, additional, Ashworth, Jane, additional, Bhaskar, Sanjeev, additional, Williams, Simon, additional, Biswas, Susmito, additional, Kehdi, Elias, additional, Ramsden, Simon C., additional, Clayton-Smith, Jill, additional, Black, Graeme C., additional, and Lloyd, I. Christopher, additional
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- 2014
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46. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
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Sharkia, Rajech, Shalev, Stavit A., Zalan, Abdelnaser, Marom‐David, Milit, Watemberg, Nathan, Urquhart, Jill E., Daly, Sarah B., Bhaskar, Sanjeev S., Williams, Simon G., Newman, William G., Spiegel, Ronen, Azem, Abdussalam, Elpeleg, Orly, and Mahajnah, Muhammad
- Abstract
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants. [ABSTRACT FROM AUTHOR]
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- 2017
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47. Involvement of the SWI/SNF Complex in Familial Meningiomatosis
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Smith, Miriam J., primary, Sullivan, James O’, additional, Bhaskar, Sanjeev S., additional, Hadfield, Kristen D., additional, Poke, Gemma, additional, Caird, John, additional, Sharif, Saba, additional, Eccles, Diana, additional, Fitzpatrick, David, additional, Rawluk, Daniel, additional, du Plessis, Daniel, additional, van Hoff, Jack, additional, Newman, William G., additional, and Evans, D. Gareth, additional
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- 2014
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48. Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
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Daly, Sarah B., primary, Shah, Hitesh, additional, O'Sullivan, James, additional, Anderson, Beverley, additional, Bhaskar, Sanjeev, additional, Williams, Simon, additional, Al-Sheqaih, Nada, additional, Mueed Bidchol, Abdul, additional, Banka, Siddharth, additional, Newman, William G., additional, and Girisha, Katta M., additional
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- 2014
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49. Abstract A35: SMARCE1 mutations cause inherited multiple spinal meningiomas
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Smith, Miriam J., primary, O'Sullivan, James, additional, Bhaskar, Sanjeev S., additional, Hadfield, Kristen D., additional, Poke, Gemma, additional, Caird, John, additional, Sharif, Saba, additional, Eccles, Diana, additional, FitzPatrick, David, additional, Rawluk, Daniel, additional, Plessis, Daniel du, additional, Newman, William G., additional, and Evans, D. Gareth, additional
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- 2013
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50. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
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Smith, Miriam J, primary, O'Sullivan, James, additional, Bhaskar, Sanjeev S, additional, Hadfield, Kristen D, additional, Poke, Gemma, additional, Caird, John, additional, Sharif, Saba, additional, Eccles, Diana, additional, Fitzpatrick, David, additional, Rawluk, Daniel, additional, du Plessis, Daniel, additional, Newman, William G, additional, and Evans, D Gareth, additional
- Published
- 2013
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