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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Journal Article
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Seaby, Eleanor G, Rehm, Heidi L, O'Donnell-Luria, Anne
Published in Frontiers in genetics (17.06.2021)
Published in Frontiers in genetics (17.06.2021)
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Journal Article
NOD2 in Crohn’s Disease—Unfinished Business
Ashton, James J, Seaby, Eleanor G, Beattie, R Mark, Ennis, Sarah
Published in Journal of Crohn's and colitis (03.04.2023)
Published in Journal of Crohn's and colitis (03.04.2023)
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Journal Article
Exome sequencing explained: a practical guide to its clinical application
Seaby, Eleanor G, Pengelly, Reuben J, Ennis, Sarah
Published in Briefings in functional genomics (01.09.2016)
Published in Briefings in functional genomics (01.09.2016)
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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
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
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
Singer-Berk, Moriel, Gudmundsson, Sanna, Baxter, Samantha, Seaby, Eleanor G., England, Eleina, Wood, Jordan C., Son, Rachel G., Watts, Nicholas A., Karczewski, Konrad J., Harrison, Steven M., MacArthur, Daniel G., Rehm, Heidi L., O’Donnell-Luria, Anne
Published in American journal of human genetics (07.09.2023)
Published in American journal of human genetics (07.09.2023)
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Journal Article
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
Pagnamenta, Alistair T., Yu, Jing, Willis, Tracey A., Hashim, Mona, Seaby, Eleanor G., Walker, Susan, Xian, Jiaqi, Cheng, Emily W. Y., Tavares, Ana Lisa Taylor, Forzano, Francesca, Cox, Helen, Dabir, Tabib, Brady, Angela F., Ghali, Neeti, Atanur, Santosh S., Ennis, Sarah, Baralle, Diana, Taylor, Jenny C.
Published in Human mutation (11.04.2023)
Published in Human mutation (11.04.2023)
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Journal Article
Response to Ramos et al
Seaby, Eleanor G., Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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Journal Article
The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach
Ashton, James J, Gurung, Abhilasha, Davis, Cai, Seaby, Eleanor G, Coelho, Tracy, Batra, Akshay, Afzal, Nadeem A, Ennis, Sarah, Beattie, R Mark
Published in Journal of pediatric gastroenterology and nutrition (01.07.2023)
Published in Journal of pediatric gastroenterology and nutrition (01.07.2023)
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Journal Article
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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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
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Seaby, Eleanor G., Smedley, Damian, Taylor Tavares, Ana Lisa, Brittain, Helen, van Jaarsveld, Richard H., Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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Journal Article
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
Josephs, Katherine S, Seaby, Eleanor G, May, Philippa, Theotokis, Pantazis, Yu, Jing, Andreou, Avgi, Sinclair, Hannah, Morris-Rosendahl, Deborah, Thomas, Ellen R A, Ennis, Sarah, Roberts, Angharad M, Ware, James S
Published in Genome medicine (29.10.2024)
Published in Genome medicine (29.10.2024)
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Journal Article
Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker
Ashton, James J, Cheng, Guo, Stafford, Imogen S, Kellermann, Melina, Seaby, Eleanor G, Cummings, J R Fraser, Coelho, Tracy A F, Batra, Akshay, Afzal, Nadeem A, Beattie, R Mark, Ennis, Sarah
Published in Inflammatory bowel diseases (03.04.2023)
Published in Inflammatory bowel diseases (03.04.2023)
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Journal Article
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease
Hoggart, Clive, Shimizu, Chisato, Galassini, Rachel, Wright, Victoria J, Shailes, Hannah, Bellos, Evan, Herberg, Jethro A, Pollard, Andrew J, O'Connor, Daniel, Choi, Shing Wan, Seaby, Eleanor G, Menikou, Stephanie, Hibberd, Martin, Sallah, Neneh, Burgner, David, Brogan, Paul, Patel, Harsita, Kim, Jihoon, Tremoulet, Adriana H, Salo, Eeva, van Stijn, Diana, Kuijpers, Taco, Burns, Jane C, Levin, Michael
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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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
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Journal Article