Henry M. Jackson Foundation · US
Area of research
Physiology · Molecular Biology
Research interest
Research interests include Histiocytic Disorders and Treatments, Extracellular vesicles in disease, Eosinophilic Disorders and Syndromes, and Genetic and rare skin diseases..
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
Mutation update for the <i>SATB2</i> gene
Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease