Nadia Carstens

Cape Town, WC, South Africa

Last Updated: 09/26/2026

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Found 27 publications

The Gut Microbiome Profile of Lions in Etosha National Park, Namibia.

The Gut Microbiome Profile of Lions in Etosha National Park, Namibia.

Journal: Research square

Published: May 18, 2026

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa study.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.

Journal: Molecular genetics & genomic medicine

Published: February 02, 2026

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

Journal: European journal of human genetics : EJHG

Published: January 21, 2026

Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting.

Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting.

Journal: Molecular genetics & genomic medicine

Published: January 21, 2026

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

Journal: Journal of genetic counseling

Published: December 22, 2025

ClinGen variant curation interface workshops: Training variant scientists on an international platform.

ClinGen variant curation interface workshops: Training variant scientists on an international platform.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 20, 2025

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 20, 2025

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

Journal: medRxiv : the preprint server for health sciences

Published: September 05, 2025

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.

Journal: Molecular genetics & genomic medicine

Published: May 14, 2025

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome.

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome.

Journal: Frontiers in genetics

Published: April 15, 2025

Showing 1-12 of 27

Last Updated: 09/26/2026