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379W Capture Hi-C identifies chromatin interactions between psoriasis-associated genetic loci and disease candidate genes. 380T Exome-wide copy number association study for arsenic-induced skin lesions: A prospective study. 394W The use of NGS 10X Genomics linked-reads to solve complex breakpoints mapping in individuals with balanced translocation. 395T Identification of a novel frameshift mutation in the gene causes primary microcephaly in a Saudi family. 401T The commitment complex over long intron genes. 402F Exon-intron architecture in high and low GC-content genes affects alternative splicing. 388W Chromosome 16q22-q24 uniparental disomy unmasks a rare recessive cause of early infantile onset epileptic encephalopathy 28.
400W A comprehensive portrait of human somatic mosaicism. 390F Marker chromosome architecture and temporal origin revealed in a family with pleiotropic psychiatric phenotypes. 391W Local and global chromatin interactions are altered by large genomic deletions associated with human brain development. 375F A novel IDS gene mutation in two Japanese patients with severe mucopolysaccharidosis type II and correlation between developmental outcomes.
376W Novel frame-shift mutation in the extracellular domain of WNT coreceptor, low-density lipoprotein receptor-related protein 6 in a Japanese family with autosomal dominant oligodontia and early onset metabolic syndrome. 373W The effect on the infection of Plasmodium falciparum by the increased Young's Modulus of G6PD deficient erythrocyte membrane.