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A new tool for prioritization of sequence variants from whole exome sequencing data.
Published in:
Source Code for Biology & Medicine, 2016, v. 11, p. 1, doi. 10.1186/s13029-016-0056-8
By:
- Glanzmann, Brigitte;
- Herbst, Hendri;
- Kinnear, Craig J.;
- Möller, Marlo;
- Gamieldien, Junaid;
- Bardien, Soraya
Publication type:
Article
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 ventricular hypertrophy.
Published in:
Cardiovascular Journal of Africa, 2015, v. 26, n. 2, p. 63, doi. 10.5830/CVJA-2015-019
By:
- Mouton, Jomien M.;
- Pellizzon, Adriano S.;
- Goosen, Althea;
- Kinnear, Craig J.;
- Herbst, Philip G.;
- Brink, Paul A.;
- Moolman-Smook, Johanna C.
Publication type:
Article
Genetic Resistance to Mycobacterium tuberculosis Infection and Disease.
Published in:
Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02219
By:
- Möller, Marlo;
- Kinnear, Craig J.;
- Orlova, Marianna;
- Kroon, Elouise E.;
- van Helden, Paul D.;
- Schurr, Erwin;
- Hoal, Eileen G.
Publication type:
Article
Deciphering Genetic Susceptibility to Tuberculous Meningitis.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.820168
By:
- 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
Publication type:
Article
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01054-6
By:
- 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.
Publication type:
Article
Neutrophil extracellular trap formation and gene programs distinguish TST/IGRA sensitization outcomes among Mycobacterium tuberculosis exposed persons living with HIV.
Published in:
PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010888
By:
- 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.
Publication type:
Article
A regulatory variant in the C1Q gene cluster is associated with tuberculosis susceptibility and C1qA plasma levels in a South African population.
Published in:
Immunogenetics, 2020, v. 72, n. 5, p. 305, doi. 10.1007/s00251-020-01167-5
By:
- Bruiners, Natalie;
- Schurz, Haiko;
- Daya, Michelle;
- Salie, Muneeb;
- van Helden, Paul D;
- Kinnear, Craig J;
- Hoal, Eileen G;
- Möller, Marlo;
- Gey van Pittius, Nicolaas C.
Publication type:
Article
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.
Published in:
2018
By:
- Glanzmann, Brigitte;
- Möller, Marlo;
- Moncada-Velez, Marcela;
- Peter, Jonny;
- Urban, Michael;
- van Helden, Paul D.;
- Hoal, Eileen G.;
- de Villiers, Nikola;
- Glashoff, Richard H.;
- Nortje, Rina;
- Bustamante, Jacinta;
- Abel, Laurent;
- Casanova, Jean-Laurent;
- Boisson-Dupuis, Stephanie;
- Esser, Monika;
- Kinnear, Craig J.
Publication type:
Letter to the Editor
The X chromosome and sex-specific effects in infectious disease susceptibility.
Published in:
Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0185-z
By:
- Schurz, Haiko;
- Salie, Muneeb;
- Tromp, Gerard;
- Hoal, Eileen G.;
- Kinnear, Craig J.;
- Möller, Marlo
Publication type:
Article
Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00034
By:
- Schurz, Haiko;
- Müller, Stephanie J.;
- van Helden, Paul David;
- Tromp, Gerard;
- Hoal, Eileen G.;
- Kinnear, Craig J.;
- Möller, Marlo
Publication type:
Article
A Sex-Stratified Genome-Wide Association Study of Tuberculosis Using a Multi-Ethnic Genotyping Array.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00678
By:
- Schurz, Haiko;
- Kinnear, Craig J.;
- Gignoux, Chris;
- Wojcik, Genevieve;
- van Helden, Paul D.;
- Tromp, Gerard;
- Henn, Brenna;
- Hoal, Eileen G.;
- Möller, Marlo
Publication type:
Article
Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.
Published in:
BMC Cell Biology, 2011, v. 12, n. 1, p. 18, doi. 10.1186/1471-2121-12-18
By:
- Uys, Gerrida M.;
- Ramburan, Amsha;
- Loos, Benjamin;
- Kinnear, Craig J.;
- Korkie, Lundi J.;
- Mouton, Jomien;
- Riedemann, Johann;
- Moolman-Smook, Johanna C.
Publication type:
Article

Found: 12