Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
Gast, Christine, Pengelly, Reuben J, Lyon, Matthew, Bunyan, David J, Seaby, Eleanor G, Graham, Nikki, Venkat-Raman, Gopalakrishnan, Ennis, Sarah
Published in Nephrology, dialysis, transplantation (01.06.2016)
Published in Nephrology, dialysis, transplantation (01.06.2016)
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Comparison of Mendeliome exome capture kits for use in clinical diagnostics
Pengelly, Reuben J, Ward, Daniel, Hunt, David, Mattocks, Christopher, Ennis, Sarah
Published in Scientific reports (24.02.2020)
Published in Scientific reports (24.02.2020)
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Journal Article
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma
Jaramillo Oquendo, Carolina, Parker, Helen, Oscier, David, Ennis, Sarah, Gibson, Jane, Strefford, Jonathan C
Published in Scientific reports (18.07.2019)
Published in Scientific reports (18.07.2019)
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Journal Article
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
Scheffel, Jörg, Mahnke, Niklas A, Hofman, Zonne L M, Maat, Steven de, Wu, Jim, Bonnekoh, Hanna, Pengelly, Reuben J, Ennis, Sarah, Holloway, John W, Kirchner, Marieluise, Mertins, Philipp, Church, Martin K, Maurer, Marcus, Maas, Coen, Krause, Karoline
Published in Nature communications (10.01.2020)
Published in Nature communications (10.01.2020)
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Journal Article
Modelling human genetic disorders in Xenopus tropicalis
Willsey, Helen Rankin, Seaby, Eleanor G, Godwin, Annie, Ennis, Sarah, Guille, Matthew, Grainger, Robert M
Published in Disease models & mechanisms (01.05.2024)
Published in Disease models & mechanisms (01.05.2024)
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Journal Article
Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study
Ennis, Sarah, PhD, Jomary, Catherine, PhD, Mullins, Robert, PhD, Cree, Angela, BSc, Chen, Xiaoli, MSc, MacLeod, Alex, FRCOphth, Jones, Stephen, PhD, Collins, Andrew, Prof, Stone, Edwin, Prof, Lotery, Andrew, Prof
Published in The Lancet (British edition) (22.11.2008)
Published in The Lancet (British edition) (22.11.2008)
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Journal Article
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease
Seaby, Eleanor G., Turner, Steven, Bunyan, David J., Seyed‐Rezai, Fariba, Essex, Jonathan, Gilbert, Rodney D., Ennis, Sarah
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
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Journal Article
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting
Pengelly, Reuben J, Alom, Thahmina, Zhang, Zijian, Hunt, David, Ennis, Sarah, Collins, Andrew
Published in Scientific reports (18.10.2017)
Published in Scientific reports (18.10.2017)
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Journal Article
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis
Sirvent, Sofia, Vallejo, Andres F, Corden, Emma, Teo, Ying, Davies, James, Clayton, Kalum, Seaby, Eleanor G, Lai, Chester, Ennis, Sarah, Alyami, Rfeef, Douilhet, Gemma, Dean, Lareb S N, Loxham, Matthew, Horswill, Sarah, Healy, Eugene, Roberts, Graham, Hall, Nigel J, Friedmann, Peter S, Singh, Harinder, Bennett, Clare L, Ardern-Jones, Michael R, Polak, Marta E
Published in Nature communications (19.05.2023)
Published in Nature communications (19.05.2023)
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Journal Article
Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma
Parry, Marina, Rose-Zerilli, Matthew J J, Gibson, Jane, Ennis, Sarah, Walewska, Renata, Forster, Jade, Parker, Helen, Davis, Zadie, Gardiner, Anne, Collins, Andrew, Oscier, David G, Strefford, Jonathan C
Published in PloS one (13.12.2013)
Published in PloS one (13.12.2013)
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Journal Article
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
Norman, Chelsea S, O'Gorman, Luke, Gibson, Jane, Pengelly, Reuben J, Baralle, Diana, Ratnayaka, J Arjuna, Griffiths, Helen, Rose-Zerilli, Matthew, Ranger, Megan, Bunyan, David, Lee, Helena, Page, Rhiannon, Newall, Tutte, Shawkat, Fatima, Mattocks, Christopher, Ward, Daniel, Ennis, Sarah, Self, Jay E
Published in Scientific reports (30.06.2017)
Published in Scientific reports (30.06.2017)
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Journal Article
Evidence of a genetically driven metabolomic signature in actively inflamed Crohn’s disease
Mossotto, Enrico, Boberska, Joanna, Ashton, James J., Stafford, Imogen S., Cheng, Guo, Baker, Jonathan, Borca, Florina, Phan, Hang T. T., Coelho, Tracy F., Beattie, R. Mark, Claus, Sandrine P., Ennis, Sarah
Published in Scientific reports (18.08.2022)
Published in Scientific reports (18.08.2022)
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Journal Article
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases
Leggatt, Gary P, Seaby, Eleanor G, Veighey, Kristin, Gast, Christine, Gilbert, Rodney D, Ennis, Sarah
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
Pharmacogenetic Associations with Vascular Endothelial Growth Factor Inhibition in Participants with Neovascular Age-related Macular Degeneration in the IVAN Study
Lotery, Andrew J., MD, FRCOphth, Gibson, Jane, PhD, Cree, Angela J., BSc, Downes, Susan M., FRCOphth, MD, Harding, Simon P., FRCOphth, MD, Rogers, Chris A., BSc, PhD, Reeves, Barnaby C., DPhil, MSc, Ennis, Sarah, BSc, PhD, Chakravarthy, Usha, FRCOphth, PhD
Published in Ophthalmology (Rochester, Minn.) (01.12.2013)
Published in Ophthalmology (Rochester, Minn.) (01.12.2013)
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Journal Article
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
O'Gorman, Luke, Norman, Chelsea S, Michaels, Luke, Newall, Tutte, Crosby, Andrew H, Mattocks, Christopher, Cree, Angela J, Lotery, Andrew J, Baple, Emma L, Ratnayaka, J Arjuna, Baralle, Diana, Lee, Helena, Osborne, Daniel, Shawkat, Fatima, Gibson, Jane, Ennis, Sarah, Self, Jay E
Published in Scientific reports (13.09.2019)
Published in Scientific reports (13.09.2019)
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Journal Article
Age-Related Macular Degeneration: A Disease of Systemic or Local Complement Dysregulation?
Warwick, Alasdair, Khandhadia, Samir, Ennis, Sarah, Lotery, Andrew
Published in Journal of clinical medicine (03.11.2014)
Published in Journal of clinical medicine (03.11.2014)
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Journal Article
Expression profile of the matricellular protein periostin in paediatric inflammatory bowel disease
Coelho, Tracy, Sonnenberg-Riethmacher, Eva, Gao, Yifang, Mossotto, Enrico, Khojanazarov, Alisher, Griffin, Annie, Mukanova, Saida, Ashimkhanova, Aiymkul, Haggarty, Rachel, Borissenko, Anton, Ashton, James J, Stafford, Imogen S, Batra, Akshay, Afzal, Nadeem A, Stanton, Michael P, Vadgama, Bhumita, Adrisova, Kapura, Beattie, Robert M, Williams, Anthony P, Ennis, Sarah, Riethmacher, Dieter
Published in Scientific reports (18.03.2021)
Published in Scientific reports (18.03.2021)
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Journal Article
Age-related Macular Degeneration and Modification of Systemic Complement Factor H Production Through Liver Transplantation
Khandhadia, Samir, MBBS, MRCOphth, Hakobyan, Svetlana, PhD, Heng, Ling Z., MBBS, Gibson, Jane, PhD, Adams, David H., MD, FMedSci, Alexander, Graeme J., MD, FRCP, Gibson, Jonathan M., MD, FRCOphth, Martin, Keith R., MRCP, FRCOphth, Menon, Geeta, FRCS (Ophth), FRCOphth, Nash, Kathryn, FRCP, PhD, Sivaprasad, Sobha, FRCS, Ennis, Sarah, PhD, Cree, Angela J., BSc, Morgan, B. Paul, FRCPath, FMedSci, Lotery, Andrew J., MD, FRCOphth
Published in Ophthalmology (Rochester, Minn.) (01.08.2013)
Published in Ophthalmology (Rochester, Minn.) (01.08.2013)
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Journal Article
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB―FKBPL―NOTCH4 region of chromosome 6p21.3
CIPRIANI, Valentina, LEUNG, Hin-Tak, CAMPBELL, Susan, ARMBRECHT, Ana Maria, DHILLON, Baljean, DEARY, Ian J, CAMPBELL, Harry, DUNLOP, Malcolm, DOMINICZAK, Anna F, MANN, Samantha S, JENKINS, Sharon A, WEBSTER, Andrew R, PLAGNOL, Vincent, BIRD, Alan C, LATHROP, Mark, ZELENIKA, Diana, SOUIED, Eric H, SAHEL, José-Alain, LEVEILLARD, Thierry, CREE, Angela J, GIBSON, Jane, ENNIS, Sarah, LOTERY, Andrew J, BUNCE, Catey, WRIGHT, Alan F, CLAYTON, David G, YATES, John R. W, KHAN, Jane C, SHAHID, Humma, MOORE, Anthony T, HARDING, Simon P, BISHOP, Paul N, HAYWARD, Caroline
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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