Delivery of a Clinical Genomics Service

by Newman, William G., Black, Graeme C.
Published in Genes (Basel) (2014)

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

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

Identifying biological pathways that underlie primordial short stature using network analysis

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

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

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

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

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

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

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

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

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

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

by Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Published 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

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

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

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

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

by Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
Published in Orphanet J Rare Dis (2015)

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

by Liu, Jingshu, Taylor, Rachel L., Baines, Richard A., Swanton, Lisa, Freeman, Sally, Corneo, Barbara, Patel, Achchhe, Marmorstein, Alan, Knudsen, Travis, Black, Graeme C., Manson, Forbes
Published in Invest Ophthalmol Vis Sci (2020)

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

by Burkitt Wright, Emma M.M., Perveen, Rahat, Clayton, Peter E., Hall, Catherine M., Costa, Teresa, Procter, Annie M., Giblin, Carol A., Donnai, Dian, Black, Graeme C.
Published 2009

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations

by Low, Sancy, Mohamed, Ryian, Davidson, Alice, Papadopoulos, Maria, Grassi, Piergiacomo, Webster, Andrew R., Black, Graeme C., Foster, Paul J., Garway-Heath, David F., Bloom, Philip A.
Published in Eye (Lond) (2019)

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

by Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Published 2010

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

by Sallah, Shalaw R., Sergouniotis, Panagiotis I., Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L., Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M., Lench, Nick, Lovell, Simon C., Black, Graeme C. M.
Published in Eur J Hum Genet (2020)

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

by Porter, Louise F., Galli, Giorgio G., Williamson, Sally, Selley, Julian, Knight, David, Elcioglu, Nursel, Aydin, Ali, Elcioglu, Mustafa, Venselaar, Hanka, Lund, Anders H., Bonshek, Richard, Black, Graeme C., Manson, Forbes D.
Published in Hum Mol Genet (2015)

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

by Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Published in Orphanet J Rare Dis (2016)

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

by Ellingford, Jamie M, Sergouniotis, Panagiotis I, Lennon, Rachel, Bhaskar, Sanjeev, Williams, Simon G, Hillman, Kate A, O’Sullivan, James, Hall, Georgina, Ramsden, Simon C, Lloyd, I Christopher, Woolf, Adrian S, Black, Graeme C M
Published in Lancet (2015)

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

by Kolehmainen, Juha, Black, Graeme C. M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Published 2003