Iman Al Khatib

机构：University of Calgary · ORCID：0000-0003-3566-6622

发表论文 10 篇 · 总被引 270 次 · h-index 6

代表论文

• A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects (2009 · Journal of Medical Genetics · 被引 131)
• MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement (2019 · Acta Neuropathologica · 被引 51)
• Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT (2023 · Human Molecular Genetics · 被引 36)
• Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome (2022 · Journal of Biological Chemistry · 被引 20)
• Loss of Ubiquitin Carboxy-Terminal Hydrolase L1 Impairs Long-Term Differentiation Competence and Metabolic Regulation in Murine Spermatogonial Stem Cells (2021 · Cells · 被引 19)
• Advances Towards Therapeutic Approaches for mtDNA Disease (2019 · Advances in experimental medicine and biology · 被引 7)