| Retinal dystrophies, genomic applications in diagnosis and prospects for therapy BM Nash, DC Wright, JR Grigg, B Bennetts, RV Jamieson Translational pediatrics 4 (2), 139, 2015 | 119 | 2015 |
| Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant SA Sandaradura, A Bournazos, A Mallawaarachchi, BB Cummings, ... Human mutation 39 (3), 383-388, 2018 | 52 | 2018 |
| Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization R Greenlees, M Mihelec, S Yousoof, D Speidel, SK Wu, S Rinkwitz, ... Human molecular genetics 24 (20), 5789-5804, 2015 | 41 | 2015 |
| Revealing hidden genetic diagnoses in the ocular anterior segment disorders A Ma, S Yousoof, JR Grigg, M Flaherty, AE Minoche, MJ Cowley, ... Genetics in Medicine 22 (10), 1623-1632, 2020 | 39 | 2020 |
| Molecular genetic studies of complete hydatidiform moles L Carey, BM Nash, DC Wright Translational pediatrics 4 (2), 181, 2015 | 29 | 2015 |
| NMNAT1 variants cause cone and cone-rod dystrophy BM Nash, R Symes, H Goel, ME Dinger, B Bennetts, JR Grigg, ... European Journal of Human Genetics 26 (3), 428-433, 2018 | 27 | 2018 |
| Genome sequencing in congenital cataracts improves diagnostic yield A Ma, JR Grigg, M Flaherty, J Smith, AE Minoche, MJ Cowley, BM Nash, ... Human Mutation 42 (9), 1173-1183, 2021 | 14 | 2021 |
| Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability F Chahine Karam, TH Loi, A Ma, BM Nash, JR Grigg, D Parekh, LG Riley, ... Journal of personalized medicine 12 (3), 502, 2022 | 10 | 2022 |
| Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment BM Nash, CJG Watson, E Hughes, AL Hou, TH Loi, B Bennetts, D Jelovic, ... European Journal of Human Genetics 29 (5), 881-886, 2021 | 10 | 2021 |
| Validation of a chromosomal microarray for prenatal diagnosis using a prospective cohort of pregnancies with increased risk for chromosome abnormalities D Wright, L Carey, S Battersby, T Nguyen, M Clarke, B Nash, ... Genetic Testing and Molecular Biomarkers 20 (12), 791-798, 2016 | 6 | 2016 |
| Whole genome sequencing, focused assays and functional studies increasing understanding in cryptic inherited retinal dystrophies BM Nash, A Ma, G Ho, E Farnsworth, AE Minoche, MJ Cowley, C Barnett, ... International journal of molecular sciences 23 (7), 3905, 2022 | 5 | 2022 |
| Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells BM Nash, TH Loi, M Fernando, A Sabri, J Robinson, A Cheng, ... Stem Cells International 2021, 2021 | 5 | 2021 |
| MERTK retinopathy: biomarkers assessing vision loss DH Sakti, EE Cornish, N Mustafic, A Zaheer, S Retsas, S Rajagopalan, ... Ophthalmic Genetics 42 (6), 706-716, 2021 | 3 | 2021 |
| IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search DH Sakti, EE Cornish, BM Nash, RV Jamieson, JR Grigg Ophthalmic Genetics 44 (5), 437-455, 2023 | 2 | 2023 |
| Genetic variants and impact in PDE6B rod-cone dystrophy CJG Watson, BM Nash, TH Loi, JR Grigg, RV Jamieson Advances in Vision Research, Volume III: Genetic Eye Research around the …, 2021 | 2 | 2021 |
| Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging DH Sakti, EE Cornish, CL Fraser, BM Nash, TM Sandercoe, MM Jones, ... Documenta Ophthalmologica 146 (3), 241-256, 2023 | 1 | 2023 |
| Natural history and biomarkers of KCNV2‐associated retinopathy DH Sakti, EE Cornish, H Ali, S Retsas, M Raza, N Saakova, LS Carvalho, ... Clinical & Experimental Ophthalmology, 2024 | | 2024 |
| Neural retina leucine zipper gene variant expanding the enhanced S cone syndrome phenotype EE Cornish, S Retsas, H Ali, N Saakova, B Nash, J McGaughran, ... CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY 51 (9), 987-988, 2023 | | 2023 |
| A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy AJ Scopelliti, RV Jamieson, EH Barnes, B Nash, S Rajagopalan, ... Documenta Ophthalmologica 147 (3), 189-201, 2023 | | 2023 |
| SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory C Ngo, M Baluyot, B Bennetts, J Carmichael, A Clark, A Darmanian, ... Pathology 55 (6), 818-826, 2023 | | 2023 |
