Nicholas Owen

UCL Institute of Ophthalmology

H指数:18

被引数:1,220

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Autosomal Recessive RDH12-Leber Congenital Amaurosis Retinal Organoids Suggest Phospholipid Pathway Dysregulation

常染色体隐性RDH12-莱伯先天性黑矇视网膜类器官提示磷脂通路失调

International Journal of Molecular Sciences

IF4.9

2026-10-070

A novel TEAD2 variant disrupts eye development resulting in microphthalmia and ocular coloboma

一种新型<em>TEAD2</em>变异体扰乱眼发育，导致小眼症和眼裂缺损

Ophthalmology Science

IF4.6

2026-09-280

OAAI

Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids

PAX6微眼畸形和虹膜缺损患者来源的hiPSC视杯样类器官中，变异特异性的notch信号通路破坏

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

IF4.2

2025-06-180

PRE

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids

显性RDH12-色素性视网膜炎损害视杆细胞发育，并涉及视网膜类器官中的视锥细胞参与。

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

IF4.3

2025-04-290

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish

ANTIOXIDANTS

IF6.6

2024-12-230

OAAI

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia

STEM CELL REPORTS

IF5.1

2024-06-010

OAAI

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

BMC GENOMICS

IF3.7

2024-05-161

OAAI

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina

JOURNAL OF PATHOLOGY

IF5.2

2023-02-096

OAAI

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

GENETICS IN MEDICINE

IF6.2

2022-05-015

OAAI

Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells

COMMUNICATIONS BIOLOGY

IF5.1

2021-06-288

OAAI

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

REP1缺乏症导致脂质代谢和氧化应激的系统性功能障碍

JCI INSIGHT

IF6.1

2021-05-1016

PAX6missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2020-10-0610

OAAI

Transcriptome profiling of zebrafish optic fissure fusion

SCIENTIFIC REPORTS

IF3.9

2019-02-0721

OAAI

Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery

SCIENTIFIC REPORTS

IF3.9

2017-07-1718

OAAI

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2016-03-1134

OAAI

Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs

NUCLEIC ACIDS RESEARCH

IF13.1

2011-11-2151

OAAI

Design principles for bifunctional targeted oligonucleotide enhancers of splicing

NUCLEIC ACIDS RESEARCH

IF13.1

2011-05-2037

OAAI

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein

HUMAN MOLECULAR GENETICS

IF3.2

2000-03-2270

OAAI

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

1999-06-2227

OAAI

Gene deletions in spinal muscular atrophy

脊髓性肌萎缩症的基因缺失

JOURNAL OF MEDICAL GENETICS

IF3.7

1996-02-0187

OAAI

Nicholas Owen

个人简介

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