Karin Weiss

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

The American Journal of Human Genetics · 2016 · First of 28 authors · 115 citations

The clinical management of Type 2 Gaucher disease

Review · Molecular Genetics and Metabolism · 2015 · Co-first of 6 authors · 84 citations