Rechargeability of Li–air cathodes pre-filled with discharge products using an ether-based electrolyte solution: implications for cycle-life of Li–air cells S Meini, N Tsiouvaras, KU Schwenke, M Piana, H Beyer, L Lange, ... Physical Chemistry Chemical Physics 15 (27), 11478-11493, 2013 | 239 | 2013 |
A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia L Lange, AT Pagnamenta, S Lise, S Clasper, H Stewart, ES Akha, ... Clinical genetics 90 (3), 258-262, 2016 | 47 | 2016 |
Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods AM Shields, AT Pagnamenta, AJ Pollard, OxClinWGS, JC Taylor, ... Frontiers in immunology 10, 1150, 2019 | 24 | 2019 |
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 18 | 2023 |
Analysis and functional validation of candidate variants arising from human whole genome sequencing L Lange University of Oxford, 2022 | | 2022 |
Pink pearly nodular papules and plaques: A malignancy more ominous than basal cell carcinoma L Lange, A Quinn, L Collins JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 81 (4), AB256-AB256, 2019 | | 2019 |
Clinical usefulness of genotype-driven and genotype-and-phenotype-driven variant prioritization algorithms (GAs and GPAs) for whole genome sequencing (WGS) analysis L Lange, AT Pagnamenta, N Popitsch, JC Taylor EUROPEAN JOURNAL OF HUMAN GENETICS 26, 994-994, 2018 | | 2018 |
Mutation in HNRNPK causes a Kabuki-like syndrome with nodular heterotopia H Stewart, PYB Au, AM Innes, J Breckpot, S Clasper, K Devriendt, ... Abstract book, 283-283, 2016 | | 2016 |