Sarah Ennis (S Ennis)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 24

Top Topics

Muscular Dystrophy

Top Venues

Nature communications

Healthcare (Basel, Switzerland)

Disease models & mechanisms

Wellcome open research

This page only lists publications with an associated author ORCID identifier.

Publications

Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew J Guille, Robert M Grainger
Modelling human genetic disorders in Xenopus tropicalis. Disease models & mechanisms 17 (5) (2024)
Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew J Guille, Robert M Grainger
Modelling human genetic disorders in Xenopus tropicalis. Disease models & mechanisms 17 (5) (2024)
Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew J Guille, Robert M Grainger
Modelling human genetic disorders in Xenopus tropicalis. Disease models & mechanisms 17 (5) (2024)
Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew J Guille, Robert M Grainger
Modelling human genetic disorders in Xenopus tropicalis. Disease models & mechanisms 17 (5) (2024)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Sofia Sirvent, Sócrates Herrera Valencia, Emma Corden, Ying Teo, James Davies, Kalum Clayton, Eleanor G Seaby, Chester Lai, Sarah Ennis, Rfeef Alyami, Gemma Douilhet, Lareb S N Dean, Matthew Loxham, Sarah Horswill, Eugene Healy, Graham Roberts, Nigel J Hall, Peter S Friedmann, Harinder Singh, Clare L Bennett, Michael R Ardern-Jones, Marta E Polak
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis. Nature communications 14 (1) (2023)
Sofia Sirvent, Sócrates Herrera Valencia, Emma Corden, Ying Teo, James Davies, Kalum Clayton, Eleanor G Seaby, Chester Lai, Sarah Ennis, Rfeef Alyami, Gemma Douilhet, Lareb S N Dean, Matthew Loxham, Sarah Horswill, Eugene Healy, Graham Roberts, Nigel J Hall, Peter S Friedmann, Harinder Singh, Clare L Bennett, Michael R Ardern-Jones, Marta E Polak
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis. Nature communications 14 (1) (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Eleanor G Seaby, Gary Leggatt, Guo Cheng, N Simon Thomas, James J Ashton, Imogen Stafford, null null, Diana Baralle, Michael J Bamshad, Anne H O'Donnell-Luria, Sarah Ennis
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project. medRxiv : the preprint server for health sciences (2023)
Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare (Basel, Switzerland) 11 (24) (2023)
Sofia Sirvent, Sócrates Herrera Valencia, Emma Corden, Ying Teo, James Davies, Kalum Clayton, Eleanor G Seaby, Chester Lai, Sarah Ennis, Rfeef Alyami, Gemma Douilhet, Lareb S N Dean, Matthew Loxham, Sarah Horswill, Eugene Healy, Graham Roberts, Nigel J Hall, Peter S Friedmann, Harinder Singh, Clare L Bennett, Michael R Ardern-Jones, Marta E Polak
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis. Nature communications 14 (1) (2023)
Eleanor G Seaby, Steven Turner, David J Bunyan, Fariba Seyed-Rezai, Jonathan W Essex, Rodney D Gilbert, Sarah Ennis
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. Clinical genetics (2022)
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Aneurin Young, Lisa K Brown, Sarah Ennis, Robert Mark Beattie, Mark John Johnson
Total body water in full-term and preterm newborns: systematic review and meta-analysis. Archives of disease in childhood. Fetal and neonatal edition 106 (5) (2021)
James John Ashton, Sarah Ennis, Robert Mark Beattie
Infliximab at diagnosis: moving towards personalisation in paediatric inflammatory bowel disease. Gut 71 (1) (2021)
Imogen S Stafford, M Kellermann, E Mossotto, R M Beattie, Ben D MacArthur, Sarah Ennis
A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases. NPJ digital medicine 3 (2020)
Reuben J Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis
Comparison of Mendeliome exome capture kits for use in clinical diagnostics. Scientific reports 10 (1) (2020)
Rosie Clark, Steven Gregory, Susan M Ring, Patricia Jacobs, Sarah Ennis, Anna Murray, Genette Ellis, Karen Birmingham, Kate Northstone, Marcus Pembrey
The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC). Wellcome open research 4 (2020)
Jörg Scheffel, Niklas A Mahnke, Zonne L M Hofman, Steven de Maat, Jim Wu, Hanna Bonnekoh, Reuben J Pengelly, Sarah Ennis, John W Holloway, Marieluise Kirchner, Philipp Mertins, Martin K Church, Marcus Maurer, Coen Maas, Karoline Krause
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. Nature communications 11 (1) (2020)
James John Ashton, Katy Latham, Robert Mark Beattie, Sarah Ennis
Review article: the genetics of the human leucocyte antigen region in inflammatory bowel disease. Alimentary pharmacology & therapeutics 50 (8) (2019)
Alejandra Vergara-Lope, M Reza Jabalameli, Clare Horscroft, Sarah Ennis, Andrew R Collins, Reuben J Pengelly
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data. Scientific data 6 (1) (2019)
Rosie Clark, Steven Gregory, Susan M Ring, Patricia Jacobs, Sarah Ennis, Anna Murray, Genette Ellis, Karen Birmingham, Kate Northstone, Marcus Pembrey
The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC). Wellcome open research (2019)