Publications by authors named "Rajkumar Ramesar"

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Genomic landscape of colorectal carcinoma in sub-Saharan Africa.
Alessandro Pietro Aldera, Komala Pillay, Barbara Robertson, Adam Boutall, Rajkumar Ramesar

J Clin Pathol· January 2023

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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, Rajkumar Ramesar

Genes (Basel)· July 2020

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Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
Emile R Chimusa, Peter Beighton, Judit Kumuthini, Rajkumar S Ramesar

Hum Mol Genet· April 2019

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Concordance of genetic variation that increases risk for anxiety disorders and posttraumatic stress disorders and that influences their underlying neurocircuitry.
Celia van der Merwe, Neda Jahanshad, Josh W Cheung, Mary Mufford, Nynke A Groenewold, Rajkumar Ramesar

J Affect Disord· February 2019

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Dravet syndrome in South African infants: Tools for an early diagnosis.
Alina I Esterhuizen, Heather C Mefford, Rajkumar S Ramesar, Shuyu Wang, Gemma L Carvill

Seizure· November 2018

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Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
Alina I Esterhuizen, Gemma L Carvill, Rajkumar S Ramesar, Symon M Kariuki, Charles R Newton

Front Neurol· May 2018

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DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa.
Tracy Glass, Mohamed A Dalvie, Zelda Holtman, Anna A Vorster, Rajkumar S Ramesar

Am J Ind Med· January 2018

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Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.
Alvera Vorster, Peter Beighton, Manogari Chetty, Yasmeen Ganie, Bertram Henderson, Rajkumar Ramesar

S Afr Med J· April 2017

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Toward colorectal cancer control in Africa.
Adeyinka O Laiyemo, Otis Brawley, David Irabor, Adam Boutall, Rajkumar S Ramesar

Int J Cancer· February 2016

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Digitotalar dysmorphism: Molecular elucidation.
Anna Alvera Vorster, Peter Beighton, Rajkumar Sewcharan Ramesar

S Afr Med J· February 2016

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Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
Christopher Mark Watson, Laura A Crinnion, Lindsay Gleghorn, William G Newman, Rajkumar Ramesar

S Afr Med J· September 2015

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A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations.
Emile R Chimusa, Ayton Meintjies, Milaine Tchanga, Nicola Mulder, Cathal Seoighe, Rajkumar Ramesar

PLoS Genet· March 2015

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Fertility and apparent genetic anticipation in Lynch syndrome.
Douglas Stupart, Aung Ko Win, Mark Jenkins, Ingrid M Winship, Paul Goldberg, Rajkumar Ramesar

Fam Cancer· September 2014

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Genetic variation in Otos is associated with cisplatin-induced ototoxicity.
Timothy F Spracklen, Heather Whitehorn, Anna Alvera Vorster, Lebogang Ramma, Sameera Dalvie, Rajkumar S Ramesar

Pharmacogenomics· September 2014

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Haplotype-based study of the association of alcohol and acetaldehyde-metabolising genes with alcohol dependence (with or without comorbid anxiety symptoms) in a Cape Mixed Ancestry population.
Andrew Crawford, Shareefa Dalvie, Sarah Lewis, Anthony King, Israel Liberzon, Rajkumar Ramesar

Metab Brain Dis· June 2014

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Research capacity. Enabling the genomic revolution in Africa.

Science· June 2014

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Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
Zandrè Bruwer, Ursula Algar, Alvera Vorster, Karen Fieggen, Alan Davidson, Rajkumar Ramesar

J Genet Couns· April 2014

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Rajkumar Ramesar

Nat Genet· February 2014

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Stargardt disease: towards developing a model to predict phenotype.
Laura Heathfield, Miguel Lacerda, Christel Nossek, Lisa Roberts, Rajkumar S Ramesar

Eur J Hum Genet· October 2013

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Human Variome Project country nodes: documenting genetic information within a country.
George P Patrinos, Timothy D Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Rajkumar S Ramesar

Hum Mutat· November 2012

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PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients.
Marelize Swart, Heather Whitehorn, Yuan Ren, Peter Smith, Rajkumar S Ramesar

BMC Med Genet· November 2012

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
Lisa J Roberts, Christel A Nossek, L Jacquie Greenberg, Rajkumar S Ramesar

Mol Vis· July 2012

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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
George P Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Rajkumar S Ramesar

Hum Mutat· January 2011

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Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.
Aisha Pandor, Rajkumar Ramesar, Sharon Prince

J Cell Biochem· October 2010

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Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans.
Nicki Tiffin, Ayton Meintjes, Rajkumar Ramesar, Vladimir B Bajic, Brian Rayner

PLoS One· September 2010

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