Porter, Forbes D.

Malformation syndromes caused by disorders of cholesterol synthesis

Porter, F. D., & Herman, G. E. (2011) · Journal of Lipid Research

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 473

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

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

Ottinger, E., Kao, M., Carrillo-Carrasco, N., Yanjanin, N., Shankar, R., Janssen, M., Brewster, M., Scott, I., Xu, X., Cradock, J., et al. (2014) · Current Topics in Medicinal Chemistry

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 121

3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome

Correa-Cerro, L. S., & Porter, F. D. (2005) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 92

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

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Farmer, C. A., Kaat, A. J., Thurm, A., Anselm, I., Akshoomoff, N., Bennett, A., Berry, L., Bruchey, A., Barshop, B. A., Berry-Kravis, E., et al. (2020) · American Journal on Intellectual and Developmental Disabilities

Psychometric Methodologies and TestingAutism Spectrum Disorder Research

Cited by 62

Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-Δ7-reductase deficiency (Smith–Lemli–Opitz syndrome)

Shackleton, C., Roitman, E., Guo, L.-W., Wilson, W. K., & Porter, F. D. (2002) · The Journal of Steroid Biochemistry and Molecular Biology

Steroid Chemistry and BiochemistryMetabolism and Genetic Disorders

Cited by 56

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

Lee, R. W. Y., Conley, S. K., Gropman, A., Porter, F. D., & Baker, E. H. (2013) · American Journal of Medical Genetics Part A

Fetal and Pediatric Neurological DisordersMetabolism and Genetic Disorders

Cited by 54

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

Growth charts for individuals with Smith-Lemli-Opitz syndrome

Lee, R. W. Y., McGready, J., Conley, S. K., Yanjanin, N. M., Nowaczyk, M. J. M., & Porter, F. D. (2012) · American Journal of Medical Genetics Part A

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 20