PubRank

Christopher A Wassif

Author PubWeight™ 25.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010 3.42
2 A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003 2.29
3 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet 2003 1.45
4 LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth. Development 2009 1.13
5 Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet 2006 1.11
6 Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet 2012 1.10
7 Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. Hum Mol Genet 2010 1.05
8 Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. J Exp Med 2006 1.05
9 Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. J Cell Sci 2006 1.04
10 Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One 2012 1.00
11 Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab 2011 1.00
12 Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. Hum Mol Genet 2008 0.96
13 Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics 2010 0.94
14 Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest 2014 0.92
15 Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. Am J Med Genet A 2003 0.92
16 Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J Inherit Metab Dis 2013 0.91
17 Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab 2015 0.85
18 Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet 2013 0.83
19 Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. J Steroid Biochem Mol Biol 2010 0.82
20 Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. Am J Med Genet A 2010 0.81
21 Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. J Assoc Res Otolaryngol 2014 0.77
22 Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Hum Mutat 2005 0.77
23 A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. Mol Genet Metab 2013 0.77
24 Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A 2005 0.75