A new tool for prioritization of sequence variants from whole exome sequencing data

por Glanzmann, Brigitte, Herbst, Hendri, Kinnear, Craig J., Möller, Marlo, Gamieldien, Junaid, Bardien, Soraya
Publicado 2016

The X chromosome and sex-specific effects in infectious disease susceptibility

por Schurz, Haiko, Salie, Muneeb, Tromp, Gerard, Hoal, Eileen G., Kinnear, Craig J., Möller, Marlo
Publicado 2019

Genetic Resistance to Mycobacterium tuberculosis Infection and Disease

por Möller, Marlo, Kinnear, Craig J., Orlova, Marianna, Kroon, Elouise E., van Helden, Paul D., Schurr, Erwin, Hoal, Eileen G.
Publicado 2018

Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population

por Schurz, Haiko, Müller, Stephanie J., van Helden, Paul David, Tromp, Gerard, Hoal, Eileen G., Kinnear, Craig J., Möller, Marlo
Publicado 2019

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricu...

por Mouton, Jomien M, Kinnear, Craig J, Moolman-Smook, Johanna C, Herbst, Philip G, Pellizzon, Adriano S, Goosen, Althea, Brink, Paul A
Publicado 2015

Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C

por Uys, Gerrida M, Ramburan, Amsha, Loos, Benjamin, Kinnear, Craig J, Korkie, Lundi J, Mouton, Jomien, Riedemann, Johann, Moolman-Smook, Johanna C
Publicado 2011

A Sex-Stratified Genome-Wide Association Study of Tuberculosis Using a Multi-Ethnic Genotyping Array

por Schurz, Haiko, Kinnear, Craig J., Gignoux, Chris, Wojcik, Genevieve, van Helden, Paul D., Tromp, Gerard, Henn, Brenna, Hoal, Eileen G., Möller, Marlo
Publicado 2019

Deciphering Genetic Susceptibility to Tuberculous Meningitis

por Schurz, Haiko, Glanzmann, Brigitte, Bowker, Nicholas, van Toorn, Ronald, Solomons, Regan, Schoeman, Johan, van Helden, Paul D., Kinnear, Craig J., Hoal, Eileen G., Möller, Marlo
Publicado 2022

An observational study identifying highly tuberculosis-exposed, HIV-1-positive but persistently TB, tuberculin and IGRA negative persons with M. tuberculosis specific antibodies in...

por Kroon, Elouise E., Kinnear, Craig J., Orlova, Marianna, Fischinger, Stephanie, Shin, Sally, Boolay, Sihaam, Walzl, Gerhard, Jacobs, Ashley, Wilkinson, Robert J., Alter, Galit, Schurr, Erwin, Hoal, Eileen G., Möller, Marlo
Publicado 2020

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

por Glanzmann, Brigitte, Möller, Marlo, Schoeman, Mardelle, Urban, Michael, van Helden, Paul D., Frigati, Lisa, Grewal, Ravnit, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., Kinnear, Craig J.
Publicado 2020

Neutrophil extracellular trap formation and gene programs distinguish TST/IGRA sensitization outcomes among Mycobacterium tuberculosis exposed persons living with HIV

por Kroon, Elouise E., Correa-Macedo, Wilian, Evans, Rachel, Seeger, Allison, Engelbrecht, Lize, Kriel, Jurgen A., Loos, Ben, Okugbeni, Naomi, Orlova, Marianna, Cassart, Pauline, Kinnear, Craig J., Tromp, Gerard C., Möller, Marlo, Wilkinson, Robert J., Coussens, Anna K., Schurr, Erwin, Hoal, Eileen G.
Publicado 2023