| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 408 | 2017 |
| InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data RN Smith, J Aleksic, D Butano, A Carr, S Contrino, F Hu, M Lyne, R Lyne, ... Bioinformatics 28 (23), 3163-3165, 2012 | 285 | 2012 |
| Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ... Journal of allergy and clinical immunology 142 (4), 1285-1296, 2018 | 209 | 2018 |
| A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ... Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016 | 189 | 2016 |
| modMine: flexible access to modENCODE data S Contrino, RN Smith, D Butano, A Carr, F Hu, R Lyne, K Rutherford, ... Nucleic acids research 40 (D1), D1082-D1088, 2012 | 163 | 2012 |
| Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ... Circulation 136 (21), 2022-2033, 2017 | 125 | 2017 |
| InterMine: extensive web services for modern biology A Kalderimis, R Lyne, D Butano, S Contrino, M Lyne, J Heimbach, F Hu, ... Nucleic acids research 42 (W1), W468-W472, 2014 | 123 | 2014 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 97 | 2020 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 60 | 2018 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 58 | 2019 |
| De novo truncating mutations in WASF1 cause intellectual disability with seizures Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ... The American Journal of Human Genetics 103 (1), 144-153, 2018 | 38 | 2018 |
| A comparative study of RNA-seq analysis strategies J Jänes, F Hu, A Lewin, E Turro Briefings in Bioinformatics 16 (6), 932-940, 2015 | 32 | 2015 |
| Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration G Arno, KJ Carss, S Hull, C Zihni, AG Robson, A Fiorentino, G Black, ... The American Journal of Human Genetics 100 (2), 334-342, 2017 | 30 | 2017 |
| Cross‐organism analysis using InterMine R Lyne, J Sullivan, D Butano, S Contrino, J Heimbach, F Hu, A Kalderimis, ... genesis 53 (8), 547-560, 2015 | 30 | 2015 |
| metabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research M Lyne, RN Smith, R Lyne, J Aleksic, F Hu, A Kalderimis, R Stepan, ... Database 2013, bat060, 2013 | 23 | 2013 |
| A minimal role for synonymous variation in human disease RS Dhindsa, Q Wang, D Vitsios, OS Burren, F Hu, JE DiCarlo, L Kruglyak, ... The American Journal of Human Genetics 109 (12), 2105-2109, 2022 | 22 | 2022 |
| Rare variant associations with plasma protein levels in the UK Biobank RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska, E Wheeler, ... Nature 622 (7982), 339-347, 2023 | 19 | 2023 |
| Understanding regulation of metabolism through feasibility analysis E Nikerel, J Berkhout, F Hu, B Teusink, MJT Reinders, D De Ridder PLoS One 7 (7), e39396, 2012 | 15 | 2012 |
| ORFLine: a bioinformatic pipeline to prioritize small open reading frames identifies candidate secreted small proteins from lymphocytes F Hu, J Lu, LS Matheson, MD Díaz-Muñoz, A Saveliev, J Xu, M Turner Bioinformatics 37 (19), 3152-3159, 2021 | 11 | 2021 |
| Cancer-driving mutations are enriched in genic regions intolerant to germline variation D Vitsios, RS Dhindsa, D Matelska, J Mitchell, X Zou, J Armenia, F Hu, ... Science Advances 8 (34), eabo6371, 2022 | 6 | 2022 |
Gos MicklemUniversity of CambridgeVerified email at gen.cam.ac.uk
