| Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank LC Pilling, J Tamosauskaite, G Jones, AR Wood, L Jones, CL Kuo, ... bmj 364, 2019 | 225 | 2019 |
| Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women G Jones, K Trajanoska, AJ Santanasto, N Stringa, CL Kuo, JL Atkins, ... Nature communications 12 (1), 654, 2021 | 214 | 2021 |
| Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and … E De Franco, SE Flanagan, T Yagi, D Abreu, J Mahadevan, MB Johnson, ... Diabetes 66 (7), 2044-2053, 2017 | 114 | 2017 |
| Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ... Prenatal Diagnosis 38 (1), 33-43, 2018 | 90 | 2018 |
| Comparison of the Legionella pneumophilapopulation structure as determined by sequence-based typing and whole genome sequencing AP Underwood, G Jones, M Mentasti, NK Fry, TG Harrison BMC microbiology 13 (1), 302, 2013 | 59 | 2013 |
| Sarcopenia and variation in the human leukocyte antigen complex G Jones, LC Pilling, CL Kuo, G Kuchel, L Ferrucci, D Melzer The Journals of Gerontology: Series A 75 (2), 301-308, 2020 | 33 | 2020 |
| A crowdsourced set of curated structural variants for the human genome LM Chapman, N Spies, P Pai, CS Lim, A Carroll, G Narzisi, CM Watson, ... PLoS computational biology 16 (6), e1007933, 2020 | 11 | 2020 |
| An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth A Parrish, R Caswell, G Jones, CM Watson, LA Crinnion, S Ellard Wellcome Open Research 2 (49), 49, 2017 | 8 | 2017 |
| Heavy-load exercise in older adults activates vasculogenesis and has a stronger impact on muscle gene expression than in young adults KM Gautvik, OK Olstad, U Raue, VT Gautvik, KJ Kvernevik, TP Utheim, ... European Review of Aging and Physical Activity 19 (1), 23, 2022 | 6 | 2022 |
| SVCurator: a crowdsourcing app to visualize evidence of structural variants for the human genome LM Chapman, N Spies, P Pai, CS Lim, A Carroll, G Narzisi, CM Watson, ... BioRxiv, 581264, 2019 | 4 | 2019 |
| The role of genetic variation in selected human musculoskeletal ageing traits G Jones PQDT-UK & Ireland, 2021 | 2 | 2021 |
| Alternative splicing and its role in the pathology of Pancreatic and Small Intestine Neuroendocrine tumours JD Garan, MMMM Trinidad, R Bamford, H Hodgetts, A Jefferies, M Martins, ... Endocrine Abstracts 96, 2023 | | 2023 |
| GENOME-WIDE ANALYSIS OF LOW STRENGTH IN OLDER PEOPLE: META-ANALYSIS OF> 250,000 VOLUNTEERS IN 16 COHORTS G Jones, LC Pilling, D Melzer Innovation in Aging 3 (Suppl 1), S222, 2019 | | 2019 |
| Sarcopenia and Variation in the Human Leukocyte Antigen Complex MR Garan Jones, LC Pilling, CL Kuo, G Kuchel, L Ferrucci, D Melzer | | 2019 |
| High diagnostic yield through a gene-agnostic trio exome sequencing strategy that identifies mutations in new and old rare disease genes J Baptista, KL Stals, M Wakeling, G Jones, A Parrish, A Bussell, R Caswell, ... European Journal of Human Genetics 26, 618-618, 2018 | | 2018 |
| SPECIAL TOPIC ISSUE ON ADVANCES IN THE DIAGNOSIS OF SINGLE GENE DISORDERS LS Chitty, S Best, K Wou, N Vora, IB Van der Veyver, R Wapner, R Horn, ... | | 2018 |
| Allozyme Diversity Database G Jones University of Wales Swansea, 2004 | | 2004 |
| Search Aggiornamenti in Medicina LC Pilling, J Tamosauskaite, G Jones, AR Wood, L Jones | | |
Dr Luke C PillingUniversity of Exeter Medical School, U.K.Verified email at exeter.ac.uk
