Abou-Ghoch, Joelle

Top Publications

Top Publications Authored or Co-Authored by "Abou-Ghoch, Joelle"

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• SMOC1 is essential for ocular and limb development in humans and mice

  American Journal of Human Genetics, Volume 88, No. 1, Year 2011, Citations 104
• Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

  European Journal of Endocrinology, Volume 168, No. 1, Year 2013, Citations 47
• A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

  Clinical Genetics, Volume 82, No. 5, Year 2012, Citations 46
• Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines

  Cytokine, Volume 69, No. 2, Year 2014, Citations 34