Genetics and genomic medicine in Saudi Arabia

Affiliations

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia.

Fowzan S Alkuraya. Mol Genet Genomic Med. 2014 Sep.

. 2014 Sep;2(5):369-78.

doi: 10.1002/mgg3.97. Epub 2014 Jul 30.

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia.

No abstract available

Figures

1. Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, et al. Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. Am. J. Hum. Genet. 2011;89:313–319. - PMC - PubMed
1. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, et al. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013;23:236–247. - PMC - PubMed
1. Adly N, Alhashem A, Ammari A. Alkuraya FS. Ciliary Genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum. Mutat. 2014;35:36–40. - PubMed
1. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J. Allergy Clin. Immunol. 2012;130:e482. - PMC - PubMed
1. Alangari AA, Alsultan A, Osman ME, Anazi S. Alkuraya FS. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J. Clin. Immunol. 2013;33:1403–1406. - PubMed