Fizza Akbar

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

Fizza Akbar, Zahraa Siddiqui, Muhammad Talha Waheed et al. · Hereditary Cancer in Clinical Practice · 2022 · 14 citations · Full text

Life Sciences, Genetics, Oncology +17

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani et al. · Genetics in Medicine · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country

Fizza Akbar, Raisa Saleh, Salman Kirmani et al. · Epilepsy & Behavior Reports · 2022 · 11 citations · Full text

Medicine, Genetics, Pediatrics +17

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan

Sibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali et al. · Journal of Pediatric Endocrinology and Metabolism · 2022 · 10 citations

Medicine, Biochemistry, Molecular Biology +15