Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012;21(24):5329-43.
. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
. . Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.
. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
. Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking. PLoS One 2014;9(3):e92065.
. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
. Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014;77(1-4):175-82.
. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum Mol Genet 2014;23(9):2490-7.
. Expression and replication studies to identify new candidate genes involved in normal hearing function. PLoS One 2014;9(1):e85352.
. A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet 2014;10(4):e1004234.
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