J. Cohen

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

G. Tint, S. Shefer, G. Salen, 1985, Journal of lipid research.

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

C. Rehder, S. Goomber, D. Bali, 2022, Frontiers in Genetics.

Hir Proteins Are Required for Position-Dependent Gene Silencing in Saccharomyces cerevisiae in the Absence of Chromatin Assembly Factor I

M. Osley, P. Kaufman, J. Cohen, 1998, Molecular and Cellular Biology.

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

J. Carpten, S. Hazard, G. Salen, 2001, Journal of lipid research.

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies

T. Yu, J. Vockley, Annemieke Aartsma-Rus, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

M. Parisi, J. Orsini, M. Caggana, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

J. Gleeson, M. McDonald, M. Zaki, 2023, American journal of medical genetics. Part A.