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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
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
2962017
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
2802018
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
1472010
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
1172005
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
1092011
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
932011
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
832017
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
752013
Genetic counselling in the era of genomic medicine
C Patch, A Middleton
British Medical Bulletin 126 (1), 27-36, 2018
662018
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
652016
Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing
C Patch, J Sequeiros, MC Cornel
European Journal of Human Genetics 17 (7), 857-859, 2009
602009
Factors affecting the clinical use of non‐invasive prenatal testing: a mixed methods systematic review
H Skirton, C Patch
Prenatal Diagnosis 33 (6), 532-541, 2013
572013
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 Genomes Project
G Wheway, HM Mitchison, JC Ambrose, EL Baple, M Bleda, ...
Frontiers in genetics 10, 127, 2019
522019
Recommendations for education and training of genetic nurses and counsellors in the United Kingdom.
H Skirton, C Barnes, P Guilbert, A Kershaw, L Kerzin-Storrar, C Patch, ...
Journal of Medical Genetics 35 (5), 410-412, 1998
471998
Genetics for healthcare professionals: A lifestage approach
H Skirton, C Patch
Taylor & Francis, 2003
442003
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
422018
A systematic search for uniparental disomy in carriers of chromosome translocations
RS James, IK Temple, C Patch, EM Thompson, T Hassold, PA Jacobs
European Journal of Human Genetics 2 (2), 83-95, 1994
381994
Opportunistic genomic screening. Recommendations of the European society of human genetics
G de Wert, W Dondorp, A Clarke, E Dequeker, C Cordier, Z Deans, ...
European Journal of Human Genetics 29 (3), 365-377, 2021
342021
Genetic counselors and genomic counseling in the United Kingdom
A Middleton, G Hall, C Patch
Molecular genetics & genomic medicine 3 (2), 79-83, 2015
342015
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
332019
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