Search

Your search keyword '"Bhaskar, Sanjeev"' showing total 209 results
Start Over Author "Bhaskar, Sanjeev"
209 results on '"Bhaskar, Sanjeev"'

1. Supplementary Table S2. from Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial

Author

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

Published
2023
Full Text
View/download PDF

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

Author

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

Published
2023
Full Text
View/download PDF

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

Author

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

Published
2023
Full Text
View/download PDF

4. Data from Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial

Author

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

Published
2023
Full Text
View/download PDF

5. Non lethal Raine syndrome and differential diagnosis

Author

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

Published
2016
Full Text
View/download PDF

6. Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial

Author

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

Published
2023
Full Text
View/download PDF

7. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Author

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.

Published
2019
Full Text
View/download PDF

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

Author

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

Published
2014
Full Text
View/download PDF

9. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Author

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

Published
2017
Full Text
View/download PDF

12. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Author

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

Published
2021
Full Text
View/download PDF

14. The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

Author

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

Published
2021
Full Text
View/download PDF

15. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Author

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

Published
2021
Full Text
View/download PDF

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

Author

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

Published
2013
Full Text
View/download PDF

19. A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

Author

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

Published
2019
Full Text
View/download PDF

20. A deep intronic SMARCB1 variant associated with schwannomatosis

Author

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
Full Text
View/download PDF

21. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Author

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

Published
2010
Full Text
View/download PDF

22. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Author

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.

Published
2022
Full Text
View/download PDF

23. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Author

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

Subjects
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.

Published
2018

24. C Identification of the major genetic contributors to tetralogy of fallot

Author

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
Full Text
View/download PDF

25. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Author

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)

Subjects
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

Published
2017

26. Molecular findings from 537 individuals with inherited retinal disease

Author

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

Subjects
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.

Published
2016

27. Deleterious genetic variants inNOTCH1are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Author

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

Published
2018
Full Text
View/download PDF

28. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Author

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

Published
2017
Full Text
View/download PDF

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

Author

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)

Published
2016
Full Text
View/download PDF

30. A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Author

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

Published
2017
Full Text
View/download PDF

31. Validation of copy number variation analysis for next-generation sequencing diagnostics

Author

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

Published
2017
Full Text
View/download PDF

32. Homozygous mutation inPTRH2gene causes progressive sensorineural deafness and peripheral neuropathy

Author

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

Published
2017
Full Text
View/download PDF

33. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Author

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

Published
2017
Full Text
View/download PDF

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

Author

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

Published
2016
Full Text
View/download PDF

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

Author

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.

Subjects
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.

Published
2014

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

Author

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

Published
2016
Full Text
View/download PDF

37. Molecular findings from 537 individuals with inherited retinal disease

Author

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

Published
2016
Full Text
View/download PDF

38. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

Author

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
Full Text
View/download PDF

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

Author

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
Full Text
View/download PDF

40. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Author

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
Full Text
View/download PDF

41. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Author

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

Published
2015
Full Text
View/download PDF

43. Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations

Author

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

Published
2014
Full Text
View/download PDF

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

Author

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

Published
2014
Full Text
View/download PDF

46. Involvement of the SWI/SNF Complex in Familial Meningiomatosis

Author

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

Published
2014
Full Text
View/download PDF

47. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Author

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]

Published
2017
Full Text
View/download PDF

49. Abstract A35: SMARCE1 mutations cause inherited multiple spinal meningiomas

Author

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

Published
2013
Full Text
View/download PDF

50. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Author

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
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results