Wassif, Christopher A.

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Wassif, C. A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L. M., Connor, W. E., Steiner, R. D., & Porter, F. D. (1998) · The American Journal of Human Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 418

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Cooper, M. K., Wassif, C. A., Krakowiak, P. A., Taipale, J., Gong, R., Kelley, R. I., Porter, F. D., & Beachy, P. A. (2003) · Nature Genetics

Hedgehog Signaling Pathway StudiesCholesterol and Lipid Metabolism

Cited by 390

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

Wassif, C. A. (2001) · Human Molecular Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 164

Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome

Bianconi, S. E., Cross, J. L., Wassif, C. A., & Porter, F. D. (2015) · Expert Opinion on Orphan Drugs

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 84

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J., & Porter, F. D. (2006) · Human Molecular Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 75

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Thurm, A., Tierney, E., Farmer, C., Albert, P., Joseph, L., Swedo, S., Bianconi, S., Bukelis, I., Wheeler, C., Sarphare, G., et al. (2016) · Journal of Neurodevelopmental Disorders

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 73

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: A novel metabolic pathway

Wassif, C. A., Yu, J., Cui, J., Porter, F. D., & Javitt, N. B. (2003) · Steroids

Cholesterol and Lipid MetabolismSteroid Chemistry and Biochemistry

Cited by 44

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., et al. (2021) · Translational Psychiatry

Autism Spectrum Disorder ResearchLipoproteins and Cardiovascular Health

Cited by 26