Azita Sadeghpour

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Transcriptional activation of the cholesterol 7α-hydroxylase gene (CYP7A) by nuclear hormone receptors

Maurizio Crestani, Azita Sadeghpour, Diane Stroup et al. · Journal of Lipid Research · 1998 · 150 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Accelerated inactivation in a mutant Na⁺channel associated with idiopathic ventricular fibrillation

Xiaoping Wan, Shenghan Chen, Azita Sadeghpour et al. · American Journal of Physiology-Heart and Circulatory Physiology · 2001 · 63 citations

Medicine, Cardiology, Genetics +17

Does Type 2 Diabetes Genetic Testing and Counseling Reduce Modifiable Risk Factors? A Randomized Controlled Trial of Veterans

Corrine I. Voils, Cynthia J. Coffman, Janet M. Grubber et al. · Journal of General Internal Medicine · 2015 · 51 citations · Full text

Life Sciences, Genetics, Preventive Medicine +17

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Tahir Naeem Khan, Kamal Khan, Azita Sadeghpour et al. · The American Journal of Human Genetics · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16