Publications by authors named "George Rebello"

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High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.
Safiye Yildiz, Ramadhani Chambuso, George Rebello, Raj Ramesar

Mol Biol Rep· July 2025

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Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Nicole Midgley, George Rebello, Lara K Holtes, Raj Ramesar, Lisa Roberts

Mol Genet Genomic Med· December 2024

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Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome.
Lutricia Ndou, Ramadhani Chambuso, Ziyaad Valley-Omar, George Rebello, Ursula Algar

J Pers Med· May 2024

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Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
Safiye Yildiz, Takudzwa N Musarurwa, Ursula Algar, Ramadhani Chambuso, George Rebello

Front Oncol· October 2023

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Correspondence on "Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database" by Dominguez-Valentin et al.
Ramadhani Chambuso, Evelyn Kaambo, George Rebello, Raj Ramesar

Genet Med· May 2022

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The impact of the c.5603A>T hypomorphic variant on founder mutation screening of for Stargardt disease in South Africa.
Nicole Midgley, Lisa Roberts, George Rebello, Raj Ramesar

Mol Vis· July 2021

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Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Lisa Roberts, Stephanie Julius, Shrinav Dawlat, Safiye Yildiz, George Rebello

Hum Mutat· November 2020

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S Melo, George Rebello

Am J Hum Genet· November 2020

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De Novo Assembly-Based Analysis of 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, George Rebello, Wolfgang Berger

Genes (Basel)· July 2020

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Personalized Human Papillomavirus Vaccination for Persistence of Immunity for Cervical Cancer Prevention: A Critical Review With Experts' Opinions.
Ramadhani Salum Chambuso, George Rebello, Evelyn Kaambo

Front Oncol· April 2020

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Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.
Lisa Roberts, George Rebello, Jacquie Greenberg, Raj Ramesar

Adv Exp Med Biol· February 2020

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Investigation of Cervical Tumor Biopsies for Chromosomal Loss of Heterozygosity (LOH) and Microsatellite Instability (MSI) at the II Locus in HIV-1/HPV Co-infected Women.
Ramadhani Chambuso, Evelyn Kaambo, Lynette Denny, Clive M Gray, Anna-Lise Williamson, George Rebello

Front Oncol· October 2019

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Altered circulating neurokinin B (NKB) levels are not due to sequence variants in the encoding genes.
Kashefa Carelse Tofa, Stefan Gebhardt, George Rebello, Verena Geissbuehler, Rene Moser

Eur J Obstet Gynecol Reprod Biol· September 2008

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Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?
Lisa Roberts, George Rebello, Rajkumar Ramesar, Jacquie Greenberg

J Ocul Biol Dis Infor· March 2008

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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, Ekow Oppon, Miroslav Munclinger

BMC Med Genet· March 2006

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Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
George Rebello, Rajkumar Ramesar, Alvera Vorster, Lisa Roberts, Liezle Ehrenreich

Proc Natl Acad Sci U S A· April 2004

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