| Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems AE Minoche, JC Dohm, H Himmelbauer Genome biology 12, 1-15, 2011 | 759 | 2011 |
| The genome of the recently domesticated crop plant sugar beet (Beta vulgaris) JC Dohm, AE Minoche, D Holtgräwe, S Capella-Gutiérrez, F Zakrzewski, ... Nature 505 (7484), 546-549, 2014 | 640 | 2014 |
| Identification of a mutation in the extracellular domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer C Montagut, A Dalmases, B Bellosillo, M Crespo, S Pairet, M Iglesias, ... Nature medicine 18 (2), 221-223, 2012 | 541 | 2012 |
| Architecture and evolution of a minute plant genome E Ibarra-Laclette, E Lyons, G Hernández-Guzmán, CA Pérez-Torres, ... Nature 498 (7452), 94-98, 2013 | 369 | 2013 |
| Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes A Vlasova, S Capella-Gutiérrez, M Rendón-Anaya, M Hernández-Oñate, ... Genome biology 17, 1-18, 2016 | 216 | 2016 |
| Molecular signatures of plastic phenotypes in two eusocial insect species with simple societies S Patalano, A Vlasova, C Wyatt, P Ewels, F Camara, PG Ferreira, ... Proceedings of the National Academy of Sciences 112 (45), 13970-13975, 2015 | 208 | 2015 |
| Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy RD Bagnall, J Ingles, ME Dinger, MJ Cowley, SB Ross, AE Minoche, S Lal, ... Journal of the American College of Cardiology 72 (4), 419-429, 2018 | 168 | 2018 |
| Exploiting single-molecule transcript sequencing for eukaryotic gene prediction AE Minoche, JC Dohm, J Schneider, D Holtgräwe, P Viehöver, M Montfort, ... Genome biology 16, 1-13, 2015 | 143 | 2015 |
| Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease AC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ... European Journal of Human Genetics 24 (11), 1584-1590, 2016 | 85 | 2016 |
| Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ... Neurology 96 (13), e1770-e1782, 2021 | 76 | 2021 |
| Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy AE Minoche, C Horvat, R Johnson, V Gayevskiy, SU Morton, AP Drew, ... Genetics in Medicine 21 (3), 650-662, 2019 | 68 | 2019 |
| Crop wild relative populations of Beta vulgaris allow direct mapping of agronomically important genes GG Capistrano-Gossmann, D Ries, D Holtgräwe, A Minoche, T Kraft, ... Nature communications 8 (1), 15708, 2017 | 67 | 2017 |
| The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease LG Riley, MJ Cowley, V Gayevskiy, AE Minoche, C Puttick, DR Thorburn, ... Genetics in Medicine 22 (7), 1254-1261, 2020 | 63 | 2020 |
| Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes KR Kumar, RL Davis, MC Tchan, GM Wali, N Mahant, K Ng, K Kotschet, ... Parkinsonism & Related Disorders 69, 111-118, 2019 | 54 | 2019 |
| Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ... Med 2 (1), 49-73. e10, 2021 | 53 | 2021 |
| ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data AE Minoche, B Lundie, GB Peters, T Ohnesorg, M Pinese, DM Thomas, ... Genome Medicine 13, 1-19, 2021 | 52 | 2021 |
| p53 Gene repair with zinc finger nucleases optimised by yeast 1-hybrid and validated by Solexa sequencing F Herrmann, M Garriga-Canut, R Baumstark, E Fajardo-Sanchez, ... PloS one 6 (6), e20913, 2011 | 51 | 2011 |
| Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical … MA Field, BD Rosen, O Dudchenko, EKF Chan, AE Minoche, RJ Edwards, ... GigaScience 9 (4), giaa027, 2020 | 46 | 2020 |
| Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis LJ Ewans, AE Minoche, D Schofield, R Shrestha, C Puttick, Y Zhu, A Drew, ... European Journal of Human Genetics 30 (10), 1121-1131, 2022 | 42 | 2022 |
| Revealing hidden genetic diagnoses in the ocular anterior segment disorders A Ma, S Yousoof, JR Grigg, M Flaherty, AE Minoche, MJ Cowley, ... Genetics in Medicine 22 (10), 1623-1632, 2020 | 40 | 2020 |
