George Rebello

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi et al. · The American Journal of Human Genetics · 2020 · 118 citations · Full text

Retinal Organoids, Structural Variants, Dominant Retinitis Pigmentosa +15

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa

George Rebello, Raj Ramesar, Alvera Vorster et al. · Proceedings of the National Academy of Sciences · 2004 · 112 citations · Full text

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Luzuko O Matolweni, Soraya Bardien, George Rebello et al. · BMC Medical Genetics · 2006 · 26 citations · Full text

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline

Jordi Maggi, Lisa Roberts, Samuel Koller et al. · Genes · 2020 · 16 citations · Full text

Investigation of Cervical Tumor Biopsies for Chromosomal Loss of Heterozygosity (LOH) and Microsatellite Instability (MSI) at the HLA II Locus in HIV-1/HPV Co-infected Women

Ramadhani Chambuso, Evelyn Kaambo, Lynette Denny et al. · Frontiers in Oncology · 2019 · 10 citations · Full text