Shahida Moosa

30PUBLICATIONS
183CO-AUTHORS
NeurogeneticsFlight dynamicsEpigenetics (incl. genome methylation and epigenomics)Pacific Peoples youth and familyRecommender systems
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Publications (30)

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|Aug 27, 2026
Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

|Jul 28, 2026
Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).

|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

|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

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Frequent Collaborators

7 joint publications

Tzung-Chien Hsieh

6 joint publications

Hannah Klinkhammer

6 joint publications

Peter M Krawitz

4 joint publications

Theresa Brunet