| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 550 | 2021 |
| 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 | 467 | 2017 |
| The 100 000 Genomes Project: bringing whole genome sequencing to the NHS C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ... Bmj 361, 2018 | 459 | 2018 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 310 | 2022 |
| Genetic counselling in the era of genomic medicine C Patch, A Middleton British Medical Bulletin 126 (1), 27-36, 2018 | 168 | 2018 |
| Penetrance for copy number variants associated with schizophrenia E Vassos, DA Collier, S Holden, C Patch, D Rujescu, D St Clair, CM Lewis Human molecular genetics 19 (17), 3477-3481, 2010 | 167 | 2010 |
| Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 146 | 2022 |
| 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 | 144 | 2017 |
| Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study C Patch, J Charlton, PJ Roderick, MC Gulliford American journal of kidney diseases 57 (6), 856-862, 2011 | 141 | 2011 |
| Opportunistic genomic screening. Recommendations of the European society of human genetics G de Wert, W Dondorp, A Clarke, EMC Dequeker, C Cordier, Z Deans, ... European Journal of Human Genetics 29 (3), 365-377, 2021 | 138 | 2021 |
| Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? A Middleton, R Milne, MA Almarri, S Anwer, J Atutornu, EE Baranova, ... The American Journal of Human Genetics 107 (4), 743-752, 2020 | 133 | 2020 |
| How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom S Sanderson, R Zimmern, M Kroese, J Higgins, C Patch, J Emery Genetics in Medicine 7 (7), 495-500, 2005 | 131 | 2005 |
| Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities F Becker, CG Van El, D Ibarreta, E Zika, S Hogarth, P Borry, ... European journal of human genetics 19 (1), S6-S44, 2011 | 123 | 2011 |
| European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death F Fellmann, CG Van El, P Charron, K Michaud, HC Howard, SN Boers, ... European Journal of Human Genetics 27 (12), 1763-1773, 2019 | 110 | 2019 |
| Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a genetic … V Waldboth, C Patch, R Mahrer-Imhof, A Metcalfe International journal of nursing studies 62, 44-59, 2016 | 101 | 2016 |
| Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project G Wheway, Genomics England Research Consortium, HM Mitchison Frontiers in genetics 10, 127, 2019 | 93 | 2019 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 92 | 2021 |
| Developing a policy for paediatric biobanks: principles for good practice K Hens, CE Van El, P Borry, A Cambon-Thomsen, MC Cornel, F Forzano, ... European Journal of Human Genetics 21 (1), 2-7, 2013 | 86 | 2013 |
| Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 81 | 2021 |
| Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data JHR Farmery, ML Smith, AG Lynch Scientific reports 8 (1), 1300, 2018 | 81 | 2018 |
Anna MiddletonDirector Kavli Centre for Ethics, Science, and the PublicPreverjeni e-poštni naslov na cam.ac.uk
