Shahida Moosa

26PUBLICATIONS
156CO-AUTHORS
Pacific Peoples youth and familyGenetics not elsewhere classifiedTe mātai huingaira o te Māori (Māori genomics)Recommender systemsNeurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (26)

|Apr 10, 2026
Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.

Jodie van Niekerk, Marianne Gush, Shahida Moosa

|Dec 15, 2025
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

Jana van der Westhuizen, Vicente A Yépez, Shahida Moosa

|Dec 11, 2025
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient.

Carli Loubser, Shahida Moosa

|Nov 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly

|Jun 25, 2025
The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.

Cumine Van Tonder, Mardelle Schoeman, Jonathan Carr

|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

Pageof 5

Frequent Collaborators

6 joint publications

Tzung-Chien Hsieh

6 joint publications

Hannah Klinkhammer

6 joint publications

Peter M Krawitz

4 joint publications

Theresa Brunet