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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun 2017;8:15927..
Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014;77(1-4):175-82..
Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. PLoS One 2015;10(1):e0116483..
Analysis of functional variants reveals new candidate genes associated with alexithymia. Psychiatry Res 2015;227(2-3):363-5..