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Publications by Margaret Humphries

Results at 2 Years After Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood–Onset Retinal Dystrophy

Ophthalmology
Ophthalmology
2016English

Related publications

Correction: Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy: Clinical Features, Molecular Genetics and Therapeutic Interventions

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2019English

Leber Congenital Amaurosis RPE65: 7 Years Follow Up

Gaceta Medica de Mexico
Medicine
2019English

Leber Congenital Amaurosis

2020English

Differential Proteomics and Functional Research Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis

PLoS ONE
Multidisciplinary
2012English

Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1

Genetics in Medicine
MedicineGenetics
2016English

Pharmacological and rAAV Gene Therapy Rescue of Visual Functions in a Blind Mouse Model of Leber Congenital Amaurosis

PLoS Medicine
BiochemistryBiotechnologyMolecular BiologyCell BiologyMedicine
2005English

Mutation Screen of the TUB Gene in Patients With Retinitis Pigmentosa and Leber Congenital Amaurosis

Experimental Eye Research
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2006English

Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2019English

Molecular and Clinical Analysis of 27 German Patients With Leber Congenital Amaurosis

PLoS ONE
Multidisciplinary
2018English

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