Zane Lombard

Johannesburg, GT, South Africa

Last Updated: 09/26/2026

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Found 55 publications

Challenges and recommendations in establishing national human diversity genomic projects.

Challenges and recommendations in establishing national human diversity genomic projects.

Journal: Nature methods

Published: June 22, 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

Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood.

Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context.

Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context.

Journal: Frontiers in cardiovascular medicine

Published: October 02, 2025

A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study.

A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study.

Journal: Frontiers in genetics

Published: April 13, 2025

An assessment of the genomic structural variation landscape in Sub-Saharan African populations.

An assessment of the genomic structural variation landscape in Sub-Saharan African populations.

Journal: Research square

Published: July 23, 2024

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Journal: Molecular genetics & genomic medicine

Published: September 07, 2023

Showing 1-12 of 55

Last Updated: 09/26/2026