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Nicholas Owen
Nicholas Owen
在 ucl.ac.uk 的电子邮件经过验证
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引用次数
引用次数
年份
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
2961995
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
1161996
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
902000
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
782011
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
611996
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
482016
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
482016
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
472011
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
421999
Transcriptome profiling of zebrafish optic fissure fusion
R Richardson, N Owen, M Toms, RM Young, D Tracey-White, ...
Scientific Reports 9 (1), 1541, 2019
292019
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
242017
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
221995
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
172021
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
172013
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
142021
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
132020
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
122021
RNA-sequencing in ophthalmology research: considerations for experimental design and analysis
N Owen, M Moosajee
Therapeutic advances in ophthalmology 11, 2515841419835460, 2019
112019
Ocular Phenotype Associated with DYRK1A Variants
C Méjécase, CM Way, N Owen, M Moosajee
Genes 12 (2), 234, 2021
102021
From Transcriptomics to Treatment in Inherited Optic Neuropathies
MJ Gilhooley, N Owen, M Moosajee, P Yu Wai Man
Genes 12 (2), 147, 2021
92021
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