Shahida Moosa
Cape Town, WC, South Africa
Last Updated: 09/26/2026
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Found 65 publications
The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses.
Journal: Prenatal diagnosis
Published: March 02, 2026
Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care.
Journal: BMJ open
Published: February 10, 2026
Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.
Journal: European journal of human genetics : EJHG
Published: November 14, 2025
Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).
Journal: European journal of human genetics : EJHG
Published: November 12, 2025
Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.
Journal: Journal of genetic counseling
Published: October 02, 2025
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.
Journal: American journal of medical genetics. Part A
Published: September 09, 2025
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient.
Journal: American journal of medical genetics. Part A
Published: September 01, 2025
Strengthening universal health coverage through the NHI: A response to recent critique.
Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Published: August 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.
Journal: NPJ genomic medicine
Published: June 10, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Last Updated: 09/26/2026