1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017;7:45040.
. Analysis of functional variants reveals new candidate genes associated with alexithymia. Psychiatry Res 2015;227(2-3):363-5.
. and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol 2017;28(3):981-994.
. 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.
. 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.
. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011;19(5):593-6.
. 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.
. . A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010;31(2):98-100.
. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet 2015;134(6):613-26.
. Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine. Pflugers Arch 2017;469(1):91-103.
. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
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