Jonathan H. LeBowitz

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

The paper identifies bidirectional effect genes associated with short stature using GWAS data and validates their therapeutic potential through functional assays and clinical trial success.

This study characterizes two distinct cellular uptake mechanisms for BMN 250 in Sanfilippo B disease, showing CI-MPR-mediated uptake in neurons and astrocytes and receptor-independent uptake in microglia.

The paper estimates the contribution of variants of unknown significance to Sanfilippo Type B incidence using functional activity data and population allele frequencies.