Black, Graeme C.

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

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

Liu, Y., Chen, S., Zühlke, L., Black, G. C., Choy, M.-K., Li, N., & Keavney, B. D. (2019) · International Journal of Epidemiology

Congenital Heart Disease StudiesCongenital heart defects research

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A foundation model for generalizable disease detection from retinal images

Zhou, Y., Chia, M. A., Wagner, S. K., Ayhan, M. S., Williamson, D. J., Struyven, R. R., Liu, T., Xu, M., Lozano, M. G., Woodward-Court, P., et al. (2023) · Nature

Retinal Imaging and AnalysisOphthalmology and Visual Health Research

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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet

Retinal Development and DisordersVirus-based gene therapy research

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Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis

Petzold, A., Balcer, L. J., Calabresi, P. A., Costello, F., Frohman, T. C., Frohman, E. M., Martinez-Lapiscina, E. H., Green, A. J., Kardon, R., Outteryck, O., et al. (2017) · The Lancet Neurology

Multiple Sclerosis Research StudiesGlaucoma and retinal disorders

Cited by 585

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR

Cehajic-Kapetanovic, J., Xue, K., Martinez-Fernandez de la Camara, C., Nanda, A., Davies, A., Wood, L. J., Salvetti, A. P., Fischer, M. D., Aylward, J. W., Barnard, A. R., et al. (2020) · Nature Medicine

Retinal Development and DisordersVirus-based gene therapy research

Cited by 368

Visual Acuity after Retinal Gene Therapy for Choroideremia

Edwards, T. L., Jolly, J. K., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., et al. (2016) · New England Journal of Medicine

Retinal Development and DisordersVirus-based gene therapy research

Cited by 195

Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot

Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., et al. (2019) · Circulation Research

Congenital heart defects researchCongenital Heart Disease Studies

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Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Xue, K., Jolly, J. K., Barnard, A. R., Rudenko, A., Salvetti, A. P., Patrício, M. I., Edwards, T. L., Groppe, M., Orlans, H. O., Tolmachova, T., et al. (2018) · Nature Medicine

Retinal Development and DisordersVirus-based gene therapy research

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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Conte, I., Hadfield, K. D., Barbato, S., Carrella, S., Pizzo, M., Bhat, R. S., Carissimo, A., Karali, M., Porter, L. F., Urquhart, J., et al. (2015) · Proceedings of the National Academy of Sciences

Retinal Development and DisordersOcular Disorders and Treatments

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

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Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Lechner, J., Porter, L. F., Rice, A., Vitart, V., Armstrong, D. J., Schorderet, D. F., Munier, F. L., Wright, A. F., Inglehearn, C. F., Black, G. C., et al. (2014) · Human Molecular Genetics

Corneal surgery and disordersConnective tissue disorders research

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Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia

Tideman, J. W. L., Pärssinen, O., Haarman, A. E. G., Khawaja, A. P., Wedenoja, J., Williams, K. M., Biino, G., Ding, X., Kähönen, M., Lehtimäki, T., et al. (2021) · JAMA Ophthalmology

Ophthalmology and Visual Impairment StudiesGenetic Associations and Epidemiology

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Assessment of visual function with cotoretigene toliparvovec in X-linked retinitis pigmentosa in the randomized XIRIUS phase 2/3 study

Lam, B. L., Pennesi, M. E., Kay, C. N., Panda, S., Gow, J. A., Zhao, G., MacLaren, R. E., MacLaren, R., Aleman, T., Birch, D., et al. (2024) · Ophthalmology

Retinal Development and DisordersVirus-based gene therapy research

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Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic Study

Dev Borman, A., Ocaka, L. A., Mackay, D. S., Ripamonti, C., Henderson, R. H., Moradi, P., Hall, G., Black, G. C., Robson, A. G., Holder, G. E., et al. (2012) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersRetinal Diseases and Treatments

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Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy

Jalil, A., Ivanova, T., Moussa, G., Parry, N. R. A., & Black, G. C. M. (2023) · Eye

Retinal Development and DisordersRetinal Diseases and Treatments

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Confirmation of the MIR204 n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

Jedlickova, J., Vajter, M., Barta, T., Black, G., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., & Liskova, P. (2023) · medRxiv

Retinal Development and DisordersOcular Disorders and Treatments

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