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Works
11
Height-reducing variants and selection for short stature in Sardinia
Genetic variants regulating immune cell levels in health and disease.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs
An integrated map of genetic variation from 1,092 human genomes
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
