Human Molecular Genetics

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model

Deep learning of genomic variation and regulatory network data

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States

MIR137 schizophrenia-associated locus controls synaptic function by regulating synaptogenesis, synapse maturation and synaptic transmission

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene