A. Friedman

Array comparative genomic hybridization analysis of heritable Xp deletion

H. Ostrer, A. Pearlman, S. Ten, 2009, American journal of medical genetics. Part A.

Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease

M. Ivanova, Julia Dao, Neil Kasaci, 2022, Frontiers in Endocrinology.

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

H. Ostrer, A. Sinclair, G. Camerino, 2010, American journal of human genetics.

Aniridia and Wilms' tumor in a child constitutionally mosaic for 11p-;12q+: a new chromosomal change also present in Wilms' tumor cells of the blastema type.

M. Trigg, E. Gilbert, D. Uehling, 1986, Human pathology.

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development

H. Ostrer, A. Pearlman, T. Jewett, 2010, American journal of medical genetics. Part A.

Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy

Julia Dao, O. Goker-Alpan, Margarita M. Ivanova, 2023, Cells.

The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease

Julia Dao, Neil Kasaci, A. Friedman, 2024, Cells.