All Stories

  1. FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts

    Article • The FASEB Journal, January 2017, Federation of American Societies For Experimental Biology (FASEB)

    Dr Christopher A Wassif, Fran P, Nitai Hait

  2. Pituitary Adenoma With Paraganglioma/Pheochromocytoma (3PAs) and Succinate Dehydrogenase Defects in Humans and Mice

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2015, Endocrine Society

    Dr Christopher A Wassif

  3. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

    Article • Genetics in Medicine, March 2015, Springer Science + Business Media

    Dr Christopher A Wassif, Dr Joan Ellen Bailey-Wilson

  4. Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2015, Endocrine Society

    Dr Christopher A Wassif, PROF CESAR L BOGUSZEWSKI, Marta Korbonits

  5. Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

    Article • Expert Opinion on Orphan Drugs, February 2015, Informa Healthcare

    Dr Christopher A Wassif

  6. Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

    Article • Annual Review of Genomics and Human Genetics, August 2014, Annual Reviews

    Dr Christopher A Wassif

  7. Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients

    Article • Neurology, June 2014, Wolters Kluwer Health

    Dr Christopher A Wassif

  8. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

    Article • Clinical Genetics, June 2014, Wiley

    Dr Christopher A Wassif

  9. Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C

    Article • Journal of the Association for Research in Otolaryngology, May 2014, Springer Science + Business Media

    Dr Christopher A Wassif

  10. Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

    Article • Journal of Inherited Metabolic Disease, February 2014, Wiley

    Dr Christopher A Wassif

  11. Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

    Article • Journal of Clinical Investigation, February 2014, American Society for Clinical Investigation

    Dr Christopher A Wassif

  12. A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease

    Article • Molecular Genetics and Metabolism, September 2013, Elsevier

    Dr Christopher A Wassif

  13. Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome

    Article • Clinical Genetics, June 2013, Wiley

    Dr Christopher A Wassif

  14. Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1

    Article • Human Molecular Genetics, May 2013, Oxford University Press (OUP)

    Dr Christopher A Wassif

  15. Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

    Article • Journal of Inherited Metabolic Disease, May 2013, Wiley

    Dr Christopher A Wassif

  16. Pituitary adenoma and phaeochromocytoma/paraganglioma - a novel syndrome with a heterogeneous genetic background

    Article • Endocrine Abstracts, March 2013, Bioscientifica

    Dr Christopher A Wassif, PROF CESAR L BOGUSZEWSKI

  17. Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

    Article • PLoS ONE, October 2012, PLOS

    Dr Christopher A Wassif

  18. Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1

    Article • Human Molecular Genetics, May 2012, Oxford University Press (OUP)

    Dr Christopher A Wassif

  19. Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH?

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2012, Endocrine Society

    Dr Christopher A Wassif

  20. Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

    Article • Science Translational Medicine, November 2010, American Association for the Advancement of Science

    Dr Christopher A Wassif

  21. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

    Article • The Journal of Steroid Biochemistry and Molecular Biology, November 2010, Elsevier

    Dr Christopher A Wassif

  22. Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome

    Article • Neuroscience, October 2010, Elsevier

    Dr Christopher A Wassif

  23. Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome

    Article • American Journal of Medical Genetics Part A, July 2010, Wiley

    Dr Christopher A Wassif

  24. Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis: IDENTIFICATION OF ALTERED METABOLIC PATHWAYS IN DHCR7 and SC5D DEFICIENCY

    Article • Molecular & Cellular Proteomics, March 2010, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Christopher A Wassif

  25. 99. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease

    Article • Molecular Genetics and Metabolism, February 2010, Elsevier

    Dr Christopher A Wassif

  26. Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications

    Article • Human Molecular Genetics, January 2010, Oxford University Press (OUP)

    Dr Christopher A Wassif

  27. Inhibition of NPC1 function by cholesterol precursors in Smith–Lemli–Opitz syndrome induces an intracellular phenotype identical to Niemann–Pick C disease

    Article • Chemistry and Physics of Lipids, August 2009, Elsevier

    Dr Christopher A Wassif

  28. Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

    Article • Genetics in Medicine, May 2009, Springer Science + Business Media

    Dr Christopher A Wassif

  29. LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth

    Article • Development, March 2009, The Company of Biologists

    Dr Christopher A Wassif

  30. Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome

    Article • Human Molecular Genetics, August 2008, Oxford University Press (OUP)

    Dr Christopher A Wassif

  31. Seeking the biochemical basis of type III 3-methylglutaconic aciduria through zebrafish models

    Article • Developmental Biology, July 2008, Elsevier

    Dr Christopher A Wassif

  32. HEM dysplasia and ichthyosis are likely laminopathies and not due to 3 -hydroxysterol  14-reductase deficiency

    Article • Human Molecular Genetics, April 2007, Oxford University Press (OUP)

    Dr Christopher A Wassif

  33. Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

    Article • The Journal of Experimental Medicine, April 2006, Rockefeller University Press

    Dr Christopher A Wassif

  34. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

    Article • Molecular Genetics and Metabolism, June 2005, Elsevier

    Dr Christopher A Wassif

  35. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Dr Marwan Shinawi, Dr Christopher A Wassif

  36. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Dr Christopher A Wassif

  37. Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

    Article • Human Mutation, January 2005, Wiley

    Dr Christopher A Wassif

  38. 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway

    Article • Steroids, August 2003, Elsevier

    Dr Christopher A Wassif

  39. Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans

    Article • American Journal of Medical Genetics, June 2003, Wiley

    Dr Christopher A Wassif

  40. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

    Article • Nature Genetics, March 2003, Springer Science + Business Media

    Dr Christopher A Wassif

  41. Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts

    Article • Molecular Genetics and Metabolism, April 2002, Elsevier

    Dr Christopher A Wassif

  42. Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

    Article • Molecular Genetics and Metabolism, September 2001, Elsevier

    Dr Christopher A Wassif

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

    Article • Human Molecular Genetics, March 2001, Oxford University Press (OUP)

    Dr Christopher A Wassif

  44. Mutation analysis and description of sixteen RSH/Smith‐Lemli‐Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping

    Article • American Journal of Medical Genetics, September 2000, Wiley

    Dr Christopher A Wassif

  45. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping

    Article • American Journal of Medical Genetics, January 2000, Wiley

    Dr Christopher A Wassif

  46. Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex

    Article • Mechanisms of Development, March 1999, Elsevier

    Dr Christopher A Wassif

  47. A Simple PCR-Based Assay Allows Detection of a Common Mutation, IVS8-1G→C, in DHCR7 in Smith-Lemli-Opitz Syndrome

    Article • Genetic Testing, January 1999, Mary Ann Liebert Inc

    Dr Christopher A Wassif

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

    Article • The American Journal of Human Genetics, July 1998, Elsevier

    Dr Christopher A Wassif

  49. Abnormal LDL Cholesterol Metabolism in Smith-Lemli-Opitz Fibroblasts † 741

    Article • Pediatric Research, April 1998, Springer Science + Business Media

    Dr Christopher A Wassif