Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R, Bateman, Mark, Best, Sunayna K, Campbell, Carolyn, Carey, Georgina, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth
Published in The Lancet (British edition) (23.02.2019)
Published in The Lancet (British edition) (23.02.2019)
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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Antoniadi, Thalia, Buxton, Chris, Dennis, Gemma, Forrester, Natalie, Smith, Debbie, Lunt, Peter, Burton-Jones, Sarah
Published in BMC medical genetics (21.09.2015)
Published in BMC medical genetics (21.09.2015)
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Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry
Bashir, Bilal, Downie, Paul, Forrester, Natalie, Wierzbicki, Anthony S., Dawson, Charlotte, Jones, Alan, Jenkinson, Fiona, Mansfield, Michael, Datta, Dev, Delaney, Hannah, Teoh, Yee, Hamilton, Paul, Ferdousi, Maryam, Kwok, See, O’Sullivan, Dawn, Wang, Jian, Hegele, Robert A., Durrington, Paul N., Soran, Handrean
Published in Arteriosclerosis, thrombosis, and vascular biology (05.09.2024)
Published in Arteriosclerosis, thrombosis, and vascular biology (05.09.2024)
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Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)
Bashir, Bilal, Kwok, See, Wierzbicki, Anthony S., Jones, Alan, Dawson, Charlotte, Downie, Paul, Jenkinson, Fiona, Delaney, Hannah, Mansfield, Michael, Datta, Dev, Teoh, Yee, Hamilton, Paul, Forrester, Natalie, O'Sullivan, Dawn, Ferdousi, Maryam, Durrington, Paul N., AbdelRazik, Alaa, Gallo, Antonio, Moulin, Philippe, Soran, Handrean
Published in Atherosclerosis (01.04.2024)
Published in Atherosclerosis (01.04.2024)
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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.
Published in Pediatric nephrology (Berlin, West) (01.11.2022)
Published in Pediatric nephrology (Berlin, West) (01.11.2022)
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A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure
Beal, Felicity, Forrester, Natalie, Watson, Elizabeth, Williams, Maggie, Buckton, Andrew, Marlais, Matko, Maxted, Andrew, Woolf, Adrian S., Saleem, Moin A., Platt, Caroline
Published in Journal of nephrology (05.06.2024)
Published in Journal of nephrology (05.06.2024)
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Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester, Natalie, Rattihalli, Rohini, Horvath, Rita, Maggi, Lorenzo, Manzur, Adnan, Fuller, Geraint, Gutowski, Nicholas, Rankin, Julia, Dick, David, Buxton, Christopher, Greenslade, Mark, Majumdar, Anirban
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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Adenovirus 12 E4orf6 inhibits ATR activation by promoting TOPBP1 degradation
Blackford, Andrew N., Patel, Rakesh N., Forrester, Natalie A., Theil, Kathrin, Groitl, Peter, Stewart, Grant S., Taylor, A. Malcolm R., Morgan, Iain M., Dobner, Thomas, Grand, Roger J. A., Turnell, Andrew S., Shenk, Thomas E.
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2010)
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Journal Article
Serotype-Specific Inactivation of the Cellular DNA Damage Response during Adenovirus Infection
FORRESTER, Natalie A, SEDGWICK, Garry G, THOMAS, Anoushka, BLACKFORD, Andrew N, SPEISEDER, Thomas, DOBNER, Thomas, BYRD, Philip J, STEWART, Grant S, TURNELL, Andrew S, GRAND, Roger J. A
Published in Journal of Virology (01.03.2011)
Published in Journal of Virology (01.03.2011)
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Journal Article
Adenovirus E4orf3 Targets Transcriptional Intermediary Factor 1γ for Proteasome-Dependent Degradation during Infection
FORRESTER, Natalie A, PATEL, Rakesh N, DOBNER, Thomas, GRAND, Roger J. A, MARTIN, Ashley, TURNELL, Andrew S, SPEISEDER, Thomas, GROITL, Peter, SEDGWICK, Garry G, SHIMWELL, Neil J, SEED, Robert I, CATNAIGH, Pól O, MCCABE, Christopher J, STEWART, Grant S
Published in Journal of Virology (01.03.2012)
Published in Journal of Virology (01.03.2012)
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The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)
Upadhyaya, Meena, Spurlock, Gill, Majounie, Elisa, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Gareth Evans, D., Ferner, Rosalie
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)
Upadhyaya, Meena, Spurlock, Gill, Majounie, Elisa, Griffiths, Sian, rester, Natalie, Baser, Mike, Huson, Susan M, Evans, DGareth, Ferner, Rosalie
Published in Human mutation (01.01.2006)
Published in Human mutation (01.01.2006)
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A rare case of adult onset LPIN1 associated rhabdomyolysis
Minton, Thomas, rester, Natalie, Baba, Sami Al, Urankar, Kathryn, Brady, Stefen
Published in Neuromuscular disorders : NMD (01.03.2020)
Published in Neuromuscular disorders : NMD (01.03.2020)
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