G. Hall

发表

The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors

A. Middleton, P. Marks, Anita Bruce, 2017, European Journal of Human Genetics.

Patient Expectations and Attitudes Towards Specialist Genetic Eye Services

G. Hall, R. Combs, E. Clarke, 2015, Journal of Genetic Counseling.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Rachel L. Taylor, J. Clayton-Smith, G. Hall, 2019, Genetics in Medicine.

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

S. Lovell, S. Bhaskar, G. Hall, 2016, Orphanet Journal of Rare Diseases.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

I. C. Lloyd, J. Clayton-Smith, G. Hall, 2016, Eye.

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

Rachel L. Taylor, I. C. Lloyd, G. Hall, 2022, Orphanet Journal of Rare Diseases.

Improving diagnosis for congenital cataract by introducing NGS genetic testing

G. Hall, G. Black, J. Ashworth, 2016, BMJ quality improvement reports.

Understanding the expectations of patients with inherited retinal dystrophies

G. Hall, K. Payne, A. Moore, 2013, British Journal of Ophthalmology.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

A. Stockman, C. Ripamonti, G. Holder, 2012, Investigative ophthalmology & visual science.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Georgina Hall, Christopher Campbell, Rachel L. Taylor, 2017, Ophthalmology.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

Jonathan E. Dickerson, S. Bhaskar, G. Hall, 2012, Journal of Medical Genetics.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

J. Clayton-Smith, D. Evans, G. Hall, 2017, Journal of Medical Genetics.

Genetic testing for inherited ocular disease: delivering on the promise at last?

G. Hall, G. Black, R. Gillespie, 2014, Clinical & experimental ophthalmology.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

Clinical and genetic variability in children with partial albinism

Katherine R. Smith, J. Clayton-Smith, G. Hall, 2019, Scientific Reports.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Rick Tearle, Georgina Hall, Simon C Ramsden, 2016, Ophthalmology.

A clinical molecular genetic service for United Kingdom families with choroideraemia.

G. Hall, A. Webster, A. Moore, 2013, European journal of medical genetics.

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

G. Hall, K. Payne, S. Roberts, 2017, Genetics in Medicine.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method

G. Hall, K. Payne, M. Eden, 2013, British Journal of Ophthalmology.

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies

G. Hall, G. Black, Eleanor McVeigh, 2019, Journal of Community Genetics.

Understanding the impact of genetic testing for inherited retinal dystrophy

G. Hall, K. Payne, A. Webster, 2013, European Journal of Human Genetics.

Genetic counselors and Genomic Counseling in the United Kingdom

A. Middleton, G. Hall, C. Patch, 2014, Molecular genetics & genomic medicine.

Explaining Mendelian Inheritance in Genetic Consultations: An IPR Study of Counselor and Counselee Experiences

R. Macleod, G. Hall, Theodora Gale, 2010, Journal of Genetic Counseling.

Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom

G. Hall, K. Payne, M. Eden, 2016, Eye.

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies

G. Hall, G. Black, Eleanor McVeigh, 2019, Journal of Community Genetics.

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

M. Longmuir, G. Hall, C. Patch, 2013, Journal of Genetic Counseling.

Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS

G. Hall, K. Payne, M. Eden, 2015, Journal of Community Genetics.

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

I. C. Lloyd, S. Bhaskar, G. Hall, 2015, The Lancet.

Genetic testing for inherited ocular disease: delivering on the promise at last?

G. Hall, G. Black, R. Gillespie, 2014, Clinical & experimental ophthalmology.

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method

G. Hall, K. Payne, M. Eden, 2013, British Journal of Ophthalmology.