Rola Abbad-Ba
London, ENG EC1V9EL, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 28 publications
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 24, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Journal: Investigative ophthalmology & visual science
Published: June 06, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Journal: Genome medicine
Published: April 24, 2025
Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.
Journal: Ophthalmic genetics
Published: May 20, 2024
Enhanced Learning and Memory in Patients with CRB1 Retinopathy.
Journal: Genes
Published: May 04, 2024
PRPS1-associated retinopathy: a diagnostic odyssey.
Journal: Ophthalmic genetics
Published: April 15, 2024
The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.
Journal: Genes
Published: April 11, 2024
Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Journal: Ophthalmic genetics
Published: May 29, 2023
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Journal: Ophthalmology. Retina
Published: February 23, 2023
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Journal: NPJ genomic medicine
Published: December 18, 2020
CNGB1-related rod-cone dystrophy: A mutation review and update.
Journal: Human mutation
Published: November 25, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Journal: Ophthalmology
Published: September 30, 2020
Last Updated: 09/26/2026