STAIR SLOS Longitudinal Study of Patients Receiving Cholesterol

Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction

Alexey M. Petrov, M. R. Kasimov, A. L. Zefirov. (2016). Acta Naturae. Cited 173 times. https://doi.org/10.32607/20758251-2016-8-1-58-73

DHCR7: A vital enzyme switch between cholesterol and vitamin D production.

Anika V. Prabhu, Winnie Luu, Dianfan Li, et al.. (2016). Progress in lipid research. Cited 144 times. https://doi.org/10.1016/j.plipres.2016.09.003

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

A. Thurm, E. Tierney, C. Farmer, et al.. (2016). Journal of Neurodevelopmental Disorders. Cited 58 times. https://doi.org/10.1186/s11689-016-9145-x

Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols

Navdar Sever, R. K. Mann, Libin Xu, et al.. (2016). Proceedings of the National Academy of Sciences. Cited 55 times. https://doi.org/10.1073/pnas.1604984113

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review

M. Boland, N. Tatonetti. (2016). The Pharmacogenomics Journal. Cited 54 times. https://doi.org/10.1038/tpj.2016.48

Cholesterolomics: An update

W. Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, et al.. (2017). Analytical Biochemistry. Cited 47 times. https://doi.org/10.1016/j.ab.2017.01.009

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

Hye-Young H. Kim, Ž. Korade, K. Tallman, et al.. (2016). Chemical research in toxicology. Cited 44 times. https://doi.org/10.1021/acs.chemrestox.6b00054

Modeling Smith-Lemli-Opitz syndrome with iPS cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

K. Francis, A. Ton, Y. Xin, et al.. (2016). Nature medicine. Cited 43 times. https://doi.org/10.1038/nm.4067

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients

W. Griffiths, Jonas Abdel-Khalik, P. Crick, et al.. (2017). The Journal of Steroid Biochemistry and Molecular Biology. Cited 42 times. https://doi.org/10.1016/j.jsbmb.2016.03.018

A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

C. Wassif, L. Kratz, S. Sparks, et al.. (2016). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 39 times. https://doi.org/10.1038/gim.2016.102

Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis

Anika V. Prabhu, Winnie Luu, Laura J. Sharpe, et al.. (2017). The Journal of Steroid Biochemistry and Molecular Biology. Cited 30 times. https://doi.org/10.1016/j.jsbmb.2016.08.003

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

C. Vianey-Saban, C. Acquaviva, D. Cheillan, et al.. (2016). Journal of Inherited Metabolic Disease. Cited 27 times. https://doi.org/10.1007/s10545-016-9947-8

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome

Andras Balajthy, S. Somodi, Zoltan Pethő, et al.. (2016). Pflügers Archiv - European Journal of Physiology. Cited 13 times. https://doi.org/10.1007/s00424-016-1851-4

7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome

M. Gou-Fàbregas, A. Macià, C. Anerillas, et al.. (2016). Scientific Reports. Cited 7 times. https://doi.org/10.1038/srep28534

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome

K. A. Freeman, Erin L. Olufs, Megan E. Tudor, et al.. (2016). Journal of Developmental & Behavioral Pediatrics. Cited 6 times. https://doi.org/10.1097/DBP.0000000000000317

Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report

A. Aslan, A. Borcek, Selma Pamukcuoglu, et al.. (2016). Child's Nervous System. Cited 5 times. https://doi.org/10.1007/s00381-016-3214-z

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

A. Tucci, L. Ronzoni, C. Arduino, et al.. (2016). BMC Medical Genetics. Cited 5 times. https://doi.org/10.1186/s12881-016-0287-1

Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients

Stephanie M. Cologna, C. Shieh, Cynthia L. Toth, et al.. (2016). American Journal of Medical Genetics Part A. Cited 4 times. https://doi.org/10.1002/ajmg.a.37720

Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis.

Agata Szpera-Goździewicz, M. Ropacka-Lesiak, P. Rzymski, et al.. (2016). Ginekologia polska. Cited 3 times. https://doi.org/10.17772/gp/61327

Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome

Z. Wen, Hongjun Song, G. Ming. (2016). Nature Medicine. Cited 1 times. https://doi.org/10.1038/nm.4081