Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy NR Rodrigues, N Owen, K Talbot, J Ignatius, V Dubowitz, KE Davies Human molecular genetics 4 (4), 631-634, 1995 | 296 | 1995 |
Gene deletions in spinal muscular atrophy. NR Rodrigues, N Owen, K Talbot, S Patel, F Muntoni, J Ignatius, ... Journal of medical genetics 33 (2), 93-96, 1996 | 116 | 1996 |
Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein N Owen, CL Doe, J Mellor, KE Davies Human Molecular Genetics 9 (5), 675-684, 2000 | 90 | 2000 |
Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs EM Makarov, N Owen, A Bottrill, OV Makarova Nucleic Acids Research, 2011 | 78 | 2011 |
A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region AM Theodosiou, NR Rodrigues, MA Nesbit, HJ Ambrose, H Paterson, ... Human molecular genetics 5 (5), 675-684, 1996 | 61 | 1996 |
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140 S Hull, N Owen, F Islam, D Tracey-White, V Plagnol, GE Holder, ... Invest Ophthalmol Vis Sci. 57 (3), 1053-1062, 2016 | 48 | 2016 |
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140 MAT Hull S, Owen N, Islam 3, Tracey-White 2, Plagnol V, Holder GE ... Invest Ophthalmol Vis Sci 57 (3), 1053-1062, 2016 | 48 | 2016 |
Design principles for bifunctional targeted oligonucleotide enhancers of splicing N Owen, H Zhou, AA Malygin, J Sangha, LD Smith, F Muntoni, IC Eperon Nucleic acids research, gkr152, 2011 | 47 | 2011 |
Analysis of mutations in the tudor domain of the survival motor neuron protein SMN P Mohaghegh, NR Rodrigues, N Owen, CP Ponting, TT Le, AHM Burghes, ... European Journal of Human Genetics 7 (5), 519-525, 1999 | 42 | 1999 |
Transcriptome profiling of zebrafish optic fissure fusion R Richardson, N Owen, M Toms, RM Young, D Tracey-White, ... Scientific Reports 9 (1), 1541, 2019 | 29 | 2019 |
Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery C Yu-Wai-Man, N Owen, J Lees, AD Tagalakis, SL Hart, AR Webster, ... Scientific Reports 7 (1), 5644, 2017 | 24 | 2017 |
Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis NR Rodrigues, L Campbell, N Owen, CH Rodeck, KE Davies The Lancet 345 (8956), 1049, 1995 | 22 | 1995 |
REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia D Lima Cunha, R Richardson, D Tracey-White, A Abbouda, A Mitsios, ... JCI insight, 2021 | 17 | 2021 |
BORIS/CTCFL is an RNA-binding protein that associates with polysomes BW Ogunkolade, TA Jones, J Aarum, J Szary, N Owen, D Ottaviani, ... BMC cell biology 14, 1-16, 2013 | 17 | 2013 |
Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells H Rore, N Owen, RE Piña-Aguilar, K Docherty, R Sekido Communications Biology 4 (1), 802, 2021 | 14 | 2021 |
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism DL Cunha, N Owen, V Tailor, M Corton, M Theodorou, M Moosajee European Journal of Human Genetics, 1-7, 2020 | 13 | 2020 |
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families P Harding, M Toms, E Schiff, N Owen, S Bell, IC Lloyd, M Moosajee International journal of molecular sciences 22 (4), 2190, 2021 | 12 | 2021 |
RNA-sequencing in ophthalmology research: considerations for experimental design and analysis N Owen, M Moosajee Therapeutic advances in ophthalmology 11, 2515841419835460, 2019 | 11 | 2019 |
Ocular Phenotype Associated with DYRK1A Variants C Méjécase, CM Way, N Owen, M Moosajee Genes 12 (2), 234, 2021 | 10 | 2021 |
From Transcriptomics to Treatment in Inherited Optic Neuropathies MJ Gilhooley, N Owen, M Moosajee, P Yu Wai Man Genes 12 (2), 147, 2021 | 9 | 2021 |