American journal of human genetics

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Intellectual disability is associated with increased runs of homozygosity in simplex autism.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.

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