Alkuraya., Fowzan S.

Top Publications

Top Publications Authored or Co-Authored by "Alkuraya., Fowzan S."

• Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families

  Cell Reports, Volume 10, No. 2, Year 2015, Citations 386
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

  Nature Genetics, Volume 45, No. 1, Year 2013, Citations 237
• LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

  Journal of Allergy and Clinical Immunology, Volume 130, No. 2, Year 2012, Citations 229
• Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 227