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Identifying mutations in Tunisian families with retinal dystrophy

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Identifying mutations in Tunisian families with retinal dystrophy

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Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data

Catch Me if You Can: Adaptation from Standing Genetic Variation to a Moving Phenotypic Optimum

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Identification and removal of low-complexity sites in allele-specific analysis of ChIP-seq data

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

GuavaH: a compendium of host genomic data in HIV biology and disease

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

The influence of genomic context on mutation patterns in the human genome inferred from rare variants