| Large‐scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand E Evangelou, K Chapman, I Meulenbelt, FB Karassa, J Loughlin, A Carr, ... Arthritis & Rheumatism: Official Journal of the American College of …, 2009 | 233 | 2009 |
| A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5′ UTR of GDF5 with osteoarthritis susceptibility K Chapman, A Takahashi, I Meulenbelt, C Watson, J Rodriguez-Lopez, ... Human molecular genetics 17 (10), 1497-1504, 2008 | 221 | 2008 |
| CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ... The American Journal of Human Genetics 95 (3), 257-274, 2014 | 177 | 2014 |
| Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ... The American Journal of Human Genetics 98 (4), 735-743, 2016 | 75 | 2016 |
| Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation JL Hayes, A Tzika, H Thygesen, S Berri, HM Wood, S Hewitt, ... Genomics 102 (3), 174-181, 2013 | 73 | 2013 |
| High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ... Thorax 73 (2), 157-166, 2018 | 71 | 2018 |
| Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease MM Carrasquillo, O Belbin, F Zou, M Allen, N Ertekin-Taner, M Ansari, ... PloS one 5 (1), e8764, 2010 | 69 | 2010 |
| Identification of a mutation in the ubiquitin-fold modifier1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia: research CM Watson, LA Crinnion, L Gleghorn, WG Newman, R Ramesar, ... South African Medical Journal 105 (7), 558-563, 2015 | 66 | 2015 |
| Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort MR Fassad, MP Patel, A Shoemark, T Cullup, J Hayward, M Dixon, ... Journal of medical genetics 57 (5), 322-330, 2020 | 59 | 2020 |
| Structure of ubiquitin-fold modifier 1-specific protease UfSP2 BH Ha, YJ Jeon, SC Shin, K Tatsumi, M Komatsu, K Tanaka, CM Watson, ... Journal of Biological Chemistry 286 (12), 10248-10257, 2011 | 59 | 2011 |
| Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications CM Watson, LA Crinnion, S Hewitt, J Bates, R Robinson, IM Carr, ... Laboratory Investigation 100 (1), 135-146, 2020 | 52 | 2020 |
| Biallelic mutations in LRRC56, encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects S Bonnefoy, CM Watson, KD Kernohan, M Lemos, S Hutchinson, ... The American Journal of Human Genetics 103 (5), 727-739, 2018 | 52 | 2018 |
| Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface CM Watson, LA Crinnion, JE Morgan, SM Harrison, CP Diggle, J Adlard, ... Human mutation 35 (4), 434-441, 2014 | 49 | 2014 |
| Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa E Shevach, M Ali, L Mizrahi-Meissonnier, M McKibbin, M El-Asrag, ... JAMA ophthalmology 133 (3), 312-318, 2015 | 45 | 2015 |
| Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa E Shevach, M Ali, L Mizrahi-Meissonnier, M McKibbin, M El-Asrag, ... JAMA ophthalmology 133 (3), 312-318, 2015 | 45 | 2015 |
| m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data A Antanaviciute, B Baquero-Perez, CM Watson, SM Harrison, C Lascelles, ... RNA 23 (10), 1493-1501, 2017 | 39 | 2017 |
| Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping CM Watson, LA Crinnion, IR Berry, SM Harrison, C Lascelles, ... BMC medical genetics 17 (1), 1-9, 2016 | 34 | 2016 |
| DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport VL Hartill, G van de Hoek, MP Patel, R Little, CM Watson, IR Berry, ... Human molecular genetics 27 (3), 529-545, 2018 | 33 | 2018 |
| OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization A Antanaviciute, CM Watson, SM Harrison, C Lascelles, L Crinnion, ... Bioinformatics 31 (23), 3822-3829, 2015 | 31 | 2015 |
| Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome CM Watson, LA Crinnion, A Tzika, A Mills, A Coates, M Pendlebury, ... American Journal of Medical Genetics Part A 164 (10), 2649-2655, 2014 | 31 | 2014 |
Carr IMSchool of Medicine, University of LeedsGeverifieerd e-mailadres voor leeds.ac.uk
