Amanda M. Krause

Johannesburg, GT, South Africa

Last Updated: 09/26/2026

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Found 91 publications

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

Erratum to "Augmenting approaches to AMR prevention: a case for environmental sustainability within the WHO core components for infection prevention and control" [J Hosp Infect 165 (2025) 118-127].

Erratum to "Augmenting approaches to AMR prevention: a case for environmental sustainability within the WHO core components for infection prevention and control" [J Hosp Infect 165 (2025) 118-127].

Journal: The Journal of hospital infection

Published: November 26, 2025

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Journal: Human genetics

Published: November 03, 2025

Hereditary ovarian cancer in women with African ancestry: a scoping review.

Hereditary ovarian cancer in women with African ancestry: a scoping review.

Journal: Familial cancer

Published: October 06, 2025

Expression of genetic peripheral neuropathies in South African children.

Expression of genetic peripheral neuropathies in South African children.

Journal: Neuromuscular disorders : NMD

Published: July 06, 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 91

Last Updated: 09/26/2026