I am a member of the analysis team of the Deciphering Developmental Disorders (DDD) project. My major interests lie within the field of human clinical genetics. Primarily, identifying the genetic causes of congenital genetic disorders and to some extent the underlying molecular/genetic mechanisms. I participated in the discovery of several new disease-causing genes and provided genetic diagnosis for a substantial number of children with developmental disorders and their families. My main contributions to this research field have been published in peer-reviewed journals.
Coming from a clinical laboratory diagnostics background, I did my PhD in Clinical genetics which is concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms.
Since consanguineous marriages are prevalent in the Middle East, I studied mainly recessive disorders segregating in a small number of extended complex families using homozygosity mapping approach to identify disease-loci and candidate genes.
In my current post doctoral investigations I delved more into the field of clinical genetics by analysing high-throughput sequencing data of a large set of mainly nonconsanguineous small families with rare developmental disorders. My main approach to identify disease-causing genes/mutations now is heavily relying on matching phenotyping similarities between unrelated patients carrying apparently rare pathogenic genotypes in genome-wide significant genes.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nature genetics 2015;47;11;1363-9
LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Orphanet journal of rare diseases 2013;8;87
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Human mutation 2013;34;3;498-505
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.
Clinical genetics 2012;82;2;147-56
A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis.
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
American journal of medical genetics. Part A 2011;155A;6;1236-45