Zandrè Bruwer

<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Jean-Marie U-King-Im, Ata Siddiqui et al. · Brain · 2016 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

Ghalia Al‐Kasbi, Fathiya Al-Murshedi, Adila Al‐Kindi et al. · Scientific Reports · 2022 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Communicating cancer risk within an African context: Experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome

Zandrè Bruwer, Merle Futter, Raj Ramesar · Patient Education and Counseling · 2013 · 24 citations

Medicine, Genetics, Oncology +17

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell et al. · The American Journal of Human Genetics · 2024 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Spinocerebellar ataxia with axonal neuropathy type 1 revisited

Patrick Scott, Adila Al Kindi, Amira Al Fahdi et al. · Journal of Clinical Neuroscience · 2019 · 19 citations

Medicine, Neurology, Neuroscience +14