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Christopher M. Watson
Christopher M. Watson
The Leeds Teaching Hospitals NHS Trust & The University of Leeds
Geverifieerd e-mailadres voor leeds.ac.uk
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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
2202009
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
2062008
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
1552014
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
682013
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
632016
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
622010
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
572018
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
492015
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
462011
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
412018
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
412014
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
402015
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
402015
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
362020
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
332020
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
302016
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
292018
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
272017
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
272015
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
262014
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Artikelen 1–20