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Rola Ba-Abbad

Moorfields Eye Hospital
UCL Institute of Ophthalmology

38

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226

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CNGB1-related rod-cone dystrophy: a mutation review and update.

2021 Human Mutation
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Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy.

2020 Ophthalmology
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Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom

2020 Ophthalmology
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

2020 Genetics in Medicine
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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

2020 Eye
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Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

2020 Investigative Ophthalmology & Visual Science
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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.

2020 American Journal of Medical Genetics Part C-seminars in Medical Genetics
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Macular maldevelopment in ATF6-mediated retinal dysfunction

2019 Ophthalmic Genetics
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Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

2019 Investigative Ophthalmology & Visual Science
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Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

2019 Ophthalmic Genetics
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Citations (3)