| VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions PJ Freeman, RK Hart, LJ Gretton, AJ Brookes, R Dalgleish Human mutation 39 (1), 61-68, 2018 | 128 | 2018 |
| A mechanistic basis for amplification differences between samples and between genome regions CD Veal, PJ Freeman, K Jacobs, O Lancaster, S Jamain, M Leboyer, ... BMC genomics 13, 1-10, 2012 | 49 | 2012 |
| SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells BJ Toghill, A Saratzis, PJ Freeman, N Sylvius, MJ Bown Clinical epigenetics 10, 1-15, 2018 | 45 | 2018 |
| Using interactive digital notebooks for bioscience and informatics education A Davies, F Hooley, P Causey-Freeman, I Eleftheriou, G Moulton PLoS computational biology 16 (11), e1008326, 2020 | 27 | 2020 |
| hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update M Wang, KM Callenberg, R Dalgleish, A Fedtsov, NK Fox, PJ Freeman, ... Human mutation 39 (12), 1803-1813, 2018 | 22 | 2018 |
| New technologies for DNA analysis–a review of the READNA Project S McGinn, D Bauer, T Brefort, L Dong, A El-Sagheer, A Elsharawy, ... New biotechnology 33 (3), 311-330, 2016 | 19 | 2016 |
| L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline P Freeman, C Macfarlane, P Collier, AJ Jeffreys, RM Badge Human mutation 32 (8), 978-988, 2011 | 14 | 2011 |
| Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals J Higgins, R Dalgleish, JT den Dunnen, G Barsh, PJ Freeman, ... Human mutation 42 (1), 3-7, 2021 | 11 | 2021 |
| UKAGS collaborators (2018) SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells BJ Toghill, A Saratzis, PJ Freeman, N Sylvius, MJ Bown Clin. Epigenetics 10 (29), 10.1186, 0 | 8 | |
| The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt K Drosou, TC Collin, PJ Freeman, R Loynes, T Freemont Scientific Reports 10 (1), 17037, 2020 | 6 | 2020 |
| Enhancing mummy ‘palaeobiographies’ through the use of multidisciplinary techniques and approaches KN White, D Chiasserini, R Loynes, AR David, BE van Dongen, K Drosou, ... Journal of Archaeological Science: Reports 47, 103784, 2023 | 4 | 2023 |
| Ten simple rules for teaching applied programming in an authentic and immersive online environment F Hooley, PJ Freeman, AC Davies PLoS computational biology 17 (8), e1009184, 2021 | 4 | 2021 |
| A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery D Danis, MJ Bamshad, Y Bridges, A Caballero-Oteyza, P Cacheiro, ... Human Genetics and Genomics Advances, 2024 | 1 | 2024 |
| Array-based dynamic allele specific hybridization (Array-DASH): Optimization-free microarray processing for multiple simultaneous genomic assays SJ Gibson, N Zahra, PJ Freeman, C Howard, O Lancaster, C Veal, ... Analytical Biochemistry 626, 114124, 2021 | 1 | 2021 |
| Standardizing variant naming in literature with VariantValidator to increase diagnostic rates PJ Freeman, JF Wagstaff, IFAC Fokkema, GR Cutting, HL Rehm, ... Nature Genetics, 1-3, 2024 | | 2024 |
| Genes, Chromosomes and Related Molecules PJ Freeman, P Baskin The CSE Manual: Scientific Style and format for Authors, Editors and …, 2024 | | 2024 |
| Ensuring the precise flow of genomic data from clinic to journal to database PJ Freeman Manchester Dysmorphology Conference, 2023 | | 2023 |
| VariantValidator:: a novel, open-access and user-friendly software to improve genetic diagnosis PJ Freeman, R Dalgleish, AJ Brookes, LJ Gretton | | 2022 |
| VariantValidator: a novel, open-access and user-friendly software to improve genetic diagnosis R Dalgleish, P Freeman, A Brookes, L Gretton REF 2021 Impact Development Case Study (https://results2021.ref.ac.uk/impact …, 2022 | | 2022 |
| Embedding skills for a new profession by teaching programming in an immersive and authentic environment: Presentation & Poster F Hooley, PJ Freeman 28th International Conference on Intelligent Systems for Molecular Biology …, 2020 | | 2020 |
Reece Hart在 harts.net 的电子邮件经过验证
