Human molecular genetics

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.

Identification of direct downstream targets of Dlx5 during early inner ear development.

Identification of direct downstream targets of Dlx5 during early inner ear development.

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.

Refining the association of MHC with multiple sclerosis in African Americans.

Refining the association of MHC with multiple sclerosis in African Americans.

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.

Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease.

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