Delivery of a Clinical Genomics Service

di Newman, William G., Black, Graeme C.
Pubblicato in Genes (Basel) (2014)

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment

di Sadeh, Tal T., Black, Graeme C., Manson, Forbes
Pubblicato in Front Genet (2021)

Improving diagnosis for congenital cataract by introducing NGS genetic testing

di Musleh, Mohammud, Ashworth, Jane, Black, Graeme, Hall, Georgina
Pubblicato in BMJ Qual Improv Rep (2016)

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

di McVeigh, Eleanor, Jones, Harriet, Black, Graeme, Hall, Georgina
Pubblicato in J Community Genet (2019)

Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG)

di Jasani, Kirti M, Parry, Neil R A, Black, Graeme, Kelly, Simon P
Pubblicato in BMJ Case Rep (2018)

Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy

di Kopsidas, Konstantinos, Javidi, Hedayat, Kelly, Simon P., Aslam, Tariq, Black, Graeme, Mahmood, Sajjad
Pubblicato in Case Rep Ophthalmol (2019)

Clinical utility gene card for: Choroideremia

di Moosajee, Mariya, Ramsden, Simon C, Black, Graeme CM, Seabra, Miguel C, Webster, Andrew R
Pubblicazione 2014

Identifying biological pathways that underlie primordial short stature using network analysis

di Hanson, Dan, Stevens, Adam, Murray, Philip G, Black, Graeme C M, Clayton, Peter E
Pubblicazione 2014

Small molecules restore the function of mutant CLC5 associated with Dent disease

di Liu, Jingshu, Sadeh, Tal T., Lippiat, Jonathan D., Thakker, Rajesh V., Black, Graeme C., Manson, Forbes
Pubblicato in J Cell Mol Med (2020)

Alstrom syndrome (OMIM 203800): a case report and literature review

di Joy, Tisha, Cao, Henian, Black, Graeme, Malik, Rayaz, Charlton-Menys, Valentine, Hegele, Robert A, Durrington, Paul N
Pubblicazione 2007

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

di Harrison, Mark, Birch, Stephen, Eden, Martin, Ramsden, Simon, Farragher, Tracey, Payne, Katherine, Hall, Georgina, Black, Graeme CM
Pubblicato in J Community Genet (2015)

Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

di Liu, Yingjuan, Chen, Sen, Zühlke, Liesl, Black, Graeme C, Choy, Mun-kit, Li, Ningxiu, Keavney, Bernard D
Pubblicato in Int J Epidemiol (2019)

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

di Whibley, Annabel, Urquhart, Jill, Dore, Jonathan, Willatt, Lionel, Parkin, Georgina, Gaunt, Lorraine, Black, Graeme, Donnai, Dian, Raymond, F Lucy
Pubblicazione 2010

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

di Jun, Albert S., Meng, Huan, Ramanan, Naren, Matthaei, Mario, Chakravarti, Shukti, Bonshek, Richard, Black, Graeme C.M., Grebe, Rhonda, Kimos, Martha
Pubblicazione 2012

Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review

di Liu, Yingjuan, Chen, Sen, Zühlke, Liesl, Babu-Narayan, Sonya V., Black, Graeme C., Choy, Mun-kit, Li, Ningxiu, Keavney, Bernard D.
Pubblicato in BMC Cardiovasc Disord (2020)

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

di Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Pubblicato in Invest Ophthalmol Vis Sci (2021)

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

di Low, Sancy, Davidson, Alice E., Holder, Graham E., Hogg, Chris R., Bhattacharya, Shomi S., Black, Graeme C., Foster, Paul J., Webster, Andrew R.
Pubblicazione 2011

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

di Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C
Pubblicazione 2012

C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation

di Swinkels, Maurice, Zhang, Justine H., Tilakaratna, Viranga, Black, Graeme, Perveen, Rahat, McHarg, Selina, Inforzato, Antonio, Day, Anthony J., Clark, Simon J.
Pubblicato in Sci Rep (2018)

Understanding the impact of genetic testing for inherited retinal dystrophy

di Combs, Ryan, McAllister, Marion, Payne, Katherine, Lowndes, Jo, Devery, Sophie, Webster, Andrew R, Downes, Susan M, Moore, Anthony T, Ramsden, Simon, Black, Graeme, Hall, Georgina
Pubblicazione 2013