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Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
Global variation in copy number in the human genome
Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
Murine segmental duplications are hot spots for chromosome and gene evolution
Reply to — Age of the ΔF508 cystic fibrosis mutation