Publications
Association of De Novo Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy. Neurology 96, e1783-e1791 (2021).
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis (2021). doi:10.1002/jimd.12367
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