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Mahmoud R Fassad

9PUBLICATIONS

127CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Cellular nervous systemMetabolic medicineStructural properties of condensed matterMajor global burdens of disease

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Publications (9)

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|Feb 18, 2025

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Maryke Schoonen, Mahmoud Fassad, Krutik Patel

|Apr 25, 2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Jan 14, 2024

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Michelle Bisschoff, Izelle Smuts, Marli Dercksen

|Aug 09, 2023

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.

Mahmoud R Fassad, Nisreen Rumman, Katrin Junger

|Jul 30, 2023

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Lindsay A Wilson, William L Macken, Luke D Perry

|Apr 20, 2023

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Nisreen Rumman, Mahmoud R Fassad, Corine Driessens

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Frequent Collaborators

6 joint publications

Hannah M Mitchison

3 joint publications

Francois H van der Westhuizen

2 joint publications

Maryke Schoonen

2 joint publications

Michelle Bisschoff

2 joint publications

Barend C Vorster

2 joint publications

Lindsay A Wilson

2 joint publications

Izelle Smuts

2 joint publications

Jane S Lucas

2 joint publications

Gabrielle Wheway

2 joint publications

Nisreen Rumman

Frequent Collaborators

6 joint publications

Hannah M Mitchison

3 joint publications

Francois H van der Westhuizen

2 joint publications

Maryke Schoonen

2 joint publications

Michelle Bisschoff

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