| Clinical implications of germline mutations in breast cancer: TP53 K Schon, M Tischkowitz Breast cancer research and treatment 167, 417-423, 2018 | 191 | 2018 |
| Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes W Wei, KR Schon, G Elgar, A Orioli, M Tanguy, A Giess, M Tischkowitz, ... Nature 611 (7934), 105-114, 2022 | 129 | 2022 |
| Mitochondrial diseases: a diagnostic revolution KR Schon, T Ratnaike, J van den Ameele, R Horvath, PF Chinnery Trends in Genetics 36 (9), 702-717, 2020 | 122 | 2020 |
| An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank E Yonova-Doing, C Calabrese, A Gomez-Duran, K Schon, W Wei, ... Nature genetics 53 (7), 982-993, 2021 | 94 | 2021 |
| Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia K Schon, NJH van Os, N Oscroft, H Baxendale, D Scoffings, J Ray, M Suri, ... Annals of neurology 85 (2), 170-180, 2019 | 86 | 2019 |
| Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ... Bmj 375, 2021 | 67 | 2021 |
| A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 63 | 2023 |
| Congenital insensitivity to pain overview KR Schon, APJ Parker, CG Woods | 51 | 2020 |
| Neuropathologic characterization of pontocerebellar hypoplasia type 6 associated with cardiomyopathy and hydrops fetalis and severe multisystem respiratory chain deficiency due … NZ Lax, CL Alston, K Schon, SM Park, D Krishnakumar, L He, G Falkous, ... Journal of Neuropathology & Experimental Neurology 74 (7), 688-703, 2015 | 41 | 2015 |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, L Matalonga, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 30 | 2020 |
| High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases S Hiz Kurul, Y Oktay, A Töpf, NZ Szabó, S Güngör, A Yaramis, ... Brain 145 (4), 1507-1518, 2022 | 27 | 2022 |
| MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases TE Ratnaike, D Greene, W Wei, A Sanchis-Juan, KR Schon, ... Nucleic acids research 49 (17), 9686-9695, 2021 | 27 | 2021 |
| Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting K Schon, E Rytina, J Drummond, J Simmonds, S Abbs, R Sandford, ... Clinical and Experimental Dermatology 43 (4), 410-415, 2018 | 22 | 2018 |
| Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs L Hurler, EJM Toonen, E Kajdácsi, B van Bree, RJ Brandwijk, W de Bruin, ... Frontiers in immunology 13, 1039765, 2022 | 20 | 2022 |
| Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) A Töpf, A Pyle, H Griffin, L Matalonga, K Schon, A Sickmann, ... European Journal of Human Genetics 29 (9), 1348-1353, 2021 | 16 | 2021 |
| Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups L Hurler, Á Szilágyi, F Mescia, L Bergamaschi, B Mező, G Sinkovits, ... Frontiers in immunology 14, 1162171, 2023 | 15 | 2023 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 14 | 2023 |
| Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts R Neves, B De Dios Perez, R Panek, S Jagani, S Wilne, JM Bhatt, ... Cancer Medicine 12 (13), 14663-14673, 2023 | 13* | 2023 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 11 | 2023 |
| Charter for disabled people using hospitals: a completed access audit cycle L Turner-Stokes, T Turner-Stokes, K Schon, H Turner-Stokes, S Dyal, ... Journal of the Royal College of Physicians of London 34 (2), 185, 2000 | 9 | 2000 |
Patrick F ChinneryUniversity of CambridgeПідтверджена електронна адреса в medschl.cam.ac.uk