• Mendelian Puzzles

    Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

  • Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Mutation in either of a pair of neighboring, coordinately expressed genes causes indistinguishable human disease.

  • James F. Crow (1916–2012)

    A population geneticist is remembered by colleagues for his generosity, clarity, and influence in the field, as well as in policy matters involving genetics.

  • A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

    Validation of predicted nonfunctional alleles in the human genome affects the medical interpretation of genomic analyses.

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