Ghaem Educational, Research and Treartment Center

Top Publications

Top Publications Authored or Co-Authored in "Ghaem Educational, Research and Treartment Center"

• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Environmental pollution: An underrecognized threat to children’s health, especially in low- and middle-income countries

  Environmental Health Perspectives, Volume 124, No. 3, Year 2016, Citations 99
• Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

  Human Mutation, Volume 43, No. 3, Year 2022, Citations 75
• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58
• A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

  American Journal of Human Genetics, Volume 108, No. 6, Year 2021, Citations 47