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Christine Patch
Christine Patch
Engagement and Society, Wellcome Connecting Science
Verified email at wellcomeconnectingscience.org
Title
Cited by
Cited by
Year
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
4062018
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
4052017
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
3592021
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
2142022
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
1622010
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
1302005
Genetic counselling in the era of genomic medicine
C Patch, A Middleton
British Medical Bulletin 126 (1), 27-36, 2018
1242018
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
1242011
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
1232017
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
1072011
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
982021
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
932020
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
902019
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project
G Wheway, HM Mitchison, Genomics England Research Consortium
Frontiers in genetics 10, 438269, 2019
892019
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
892016
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
852013
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
842022
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
662021
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
652021
Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes
J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ...
The American Journal of Human Genetics 103 (1), 3-18, 2018
602018
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