Screening of potential novel candidate genes in schwannomatosis patients
Perez‐Becerril, Cristina, Wallace, Andrew J., Schlecht, Helene, Bowers, Naomi L., Smith, Philip T., Gokhale, Carolyn, Eaton, Helen, Charlton, Chris, Robinson, Rachel, Charlton, Ruth S., Evans, D. Gareth, Smith, Miriam J.
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Watson, Christopher M, Crinnion, Laura A, Berry, Ian R, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S, Dobbie, Angus, Carr, Ian M, Bonthron, David T
Published in BMC medical genetics (04.01.2016)
Published in BMC medical genetics (04.01.2016)
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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Three-year follow-up of a randomised clinical trial of intravenous versus oral iron for anaemia in pregnancy
Khalafallah, Alhossain A, Dennis, Amanda E, Ogden, Kath, Robertson, Iain, Charlton, Ruth H, Bellette, Jackie M, Shady, Jessica L, Blesingk, Nep, Ball, Madeleine
Published in BMJ open (2012)
Published in BMJ open (2012)
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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing
Watson, Christopher M, El-Asrag, Mohammed, Parry, David A, Morgan, Joanne E, Logan, Clare V, Carr, Ian M, Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A, Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F, Ali, Manir
Published in PloS one (18.08.2014)
Published in PloS one (18.08.2014)
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Extensive gene conversion at the PMS2 DNA mismatch repair locus
Hayward, Bruce E., De Vos, Michel, Valleley, Elizabeth M.A., Charlton, Ruth S., Taylor, Graham R., Sheridan, Eamonn, Bonthron, David T.
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss
Yoong, Soo Y, Mavrogiannis, Lampros A, Wright, John, Fairley, Lesley, Bennett, Christopher P, Charlton, Ruth S, Spencer, Nick
Published in Archives of disease in childhood (01.09.2011)
Published in Archives of disease in childhood (01.09.2011)
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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Hany, Ummey, Watson, Christopher M, Liu, Lu, Smith, Claire E L, Harfoush, Asmaa, Poulter, James A, Nikolopoulos, Georgios, Balmer, Richard, Brown, Catriona J, Patel, Anesha, Simmonds, Jenny, Charlton, Ruth, Acosta de Camargo, María Gabriela, Rodd, Helen D, Jafri, Hussain, Antanaviciute, Agne, Moffat, Michelle, Al-Jawad, Maisoon, Inglehearn, Chris F, Mighell, Alan J
Published in Journal of medical genetics (01.04.2024)
Published in Journal of medical genetics (01.04.2024)
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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Ellard, Sian, Morgan, Sian, Wynn, Sarah L, Walker, Susan, Parrish, Andrew, Mein, Rachael, Juett, Ana, Ahn, Joo Wook, Berry, Ian, Cassidy, Emma-Jane, Durkie, Miranda, Fish, Louise, Hall, Richard, Howard, Emma, Rankin, Julia, Wright, Caroline F, Deans, Zandra C, Scott, Richard H, Hill, Sue L, Baple, Emma L, Taylor, Robert W, Baty, David, Berg, Jonathan, Blair, Edward, Bowdin, Sarah, Bownass, Lucy, Bradley, Therese, Campbell, Jennifer, Charlton, Ruth, Clouston, Penny, Constantinou, Panayiotis, Cooper, Nicola, Delon, Isabelle, Downes, Kate, Ellis, David, Elmslie, Frances, Ghali, Neeti, Hagan, Richard, Heggarty, Shirley, Higgs, Jennifer, Hunt, David, Jenkins, Lucy, McAnulty, Ciaron, McCann, Emma, McDevitt, Trudi, McMullan, Dominic, Miedzybrodzka, Zosia, Moore, David, Newman, William, O’Sullivan, Dawn, Parker, Michael, Porteous, Mary, Ramsden, Simon, Rea, Gillian, Ruddy, Deborah, Ryan, Gavin, Sarkar, Ajoy, Sheridan, Eamonn, Short, John, Thomas, Ellen, Thomas, Simon, Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Williams, Angharad, Wright, Michael
Published in Journal of medical genetics (25.11.2024)
Published in Journal of medical genetics (25.11.2024)
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Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
Whitehouse, Laura L. E., Smith, Claire E. L., Poulter, James A., Brown, Catriona J., Patel, Anesha, Lamb, Teresa, Brown, Lucy R., O’Sullivan, Elizabeth A., Mitchell, Rowena E., Berry, Ian R., Charlton, Ruth, Inglehearn, Chris F., Mighell, Alan J.
Published in Oral diseases (01.01.2019)
Published in Oral diseases (01.01.2019)
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Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Antanaviciute, Agne, Adlard, Julian, Markham, Alexander F., Carr, Ian M., Charlton, Ruth, Bonthron, David T.
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
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Innovative recruitment and clinical orientation programme to manage NHS junior doctor shortfall: A district hospital experience
Quadery, Syed Rehan, Roodbari, Hamid, Pardeshi, Pradeep, Shah, Dilip, Ahmed, Hira, Jain, Seema, Saridis, Jason, Rahman, Shakil, Ratnasingam, Nithiyananthan, Ebdon, Caroline, Bogle, Richard, Marsh, James, Charlton, Ruth, Lim, Guan, Makanjoula, David, Camp, Daniel, Winn, Simon
Published in Future healthcare journal (01.06.2020)
Published in Future healthcare journal (01.06.2020)
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Journal Article
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads
Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Clokie, Samuel, Robinson, Rachel L., Adlard, Julian, Charlton, Ruth, Markham, Alexander F., Carr, Ian M., Bonthron, David T.
Published in Molecular diagnosis & therapy (01.12.2017)
Published in Molecular diagnosis & therapy (01.12.2017)
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GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Carr, Ian M, Camm, Nick, Taylor, Graham R, Charlton, Ruth, Ellard, Sian, Sheridan, Eamonn G, Markham, Alexander F, Bonthron, David T
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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The introduction of a targeted next generation sequencing diagnostic service for MH
Fiszer, Dorota, Hobson, Sarah, Fisher, Nickla, Shaw, Marie-Anne, Shepherd, Sarah, Robinson, Rachel, Charlton, Ruth, Hopkins, Phil
Published in BMC anesthesiology (18.08.2014)
Published in BMC anesthesiology (18.08.2014)
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PMS2 Mutations in Childhood Cancer
De Vos, Michel, Hayward, Bruce E., Charlton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carole M. E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
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