Farah Bibi

Neuronal intranuclear inclusion disease is genetically heterogeneous

Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane et al. · Annals of Clinical and Translational Neurology · 2020 · 63 citations · Full text

Life Sciences, Genetics, Neurology +17

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Laura Vandervore, Rachel Schot, Chiara Milanese et al. · The American Journal of Human Genetics · 2019 · 48 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +9

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak, Jaya Punetha, Jeshurun C. Kalanithy et al. · Genetics in Medicine · 2021 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia

Asmat Ullah, Farah Bibi, Nighat Haider et al. · Clinical Dysmorphology · 2020 · 23 citations

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian et al. · The American Journal of Human Genetics · 2022 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17