PubRank

Robert P Erickson

Author PubWeight™ 51.51‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012 3.58
2 The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol Cell Biol 2003 2.52
3 Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007 1.98
4 Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 2005 1.98
5 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003 1.83
6 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013 1.78
7 FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. Hum Mol Genet 2003 1.55
8 Chy-3 mice are Vegfc haploinsufficient and exhibit defective dermal superficial to deep lymphatic transition and dermal lymphatic hypoplasia. Dev Dyn 2007 1.53
9 Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice. J Neurosci Res 2008 1.26
10 The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A 2008 1.16
11 Experimental non-alcoholic fatty liver disease results in decreased hepatic uptake transporter expression and function in rats. Eur J Pharmacol 2009 1.16
12 Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice. J Neurosci Res 2005 1.12
13 A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Hum Mol Genet 2011 1.10
14 Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A 2003 1.10
15 DNA constructs designed to produce short hairpin, interfering RNAs in transgenic mice sometimes show early lethality and an interferon response. J Appl Genet 2005 1.07
16 Athabascan brainstem dysgenesis syndrome. Am J Med Genet A 2003 1.05
17 Decreased Npc1 gene dosage in mice is associated with weight gain. Obesity (Silver Spring) 2009 1.04
18 Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet 2002 1.03
19 Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome. Gene Expr Patterns 2004 1.02
20 Understanding Niemann-Pick type C disease: a fat problem. Curr Opin Neurol 2003 1.01
21 Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice. Mol Genet Metab 2011 0.96
22 MRI detects therapeutic effects in weanling Niemann-Pick type C mice. J Neurosci Res 2008 0.92
23 Genetics of sexual development: a new paradigm. Am J Med Genet A 2007 0.90
24 Neuropeptides modulate rat chorda tympani responses. Am J Physiol Regul Integr Comp Physiol 2003 0.90
25 Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia. J Neurosci Res 2009 0.90
26 Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet A 2007 0.89
27 Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 2010 0.87
28 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet 2002 0.87
29 Genetic variation in the mouse model of Niemann Pick C1 affects female, as well as male, adiposity, and hepatic bile transporters but has indeterminate effects on caveolae. Gene 2011 0.87
30 Niemann-Pick C1 mice, a model of "juvenile Alzheimer's disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration. J Alzheimers Dis 2012 0.86
31 Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy. Mitochondrion 2011 0.86
32 Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet 2011 0.86
33 Diffusion tensor imaging in Niemann-Pick Type C disease. Pediatr Neurol 2005 0.86
34 Polymorphisms of the HTR1a allele are linked to frontal brain electrical asymmetry. Biol Psychol 2009 0.86
35 Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C. J Appl Genet 2004 0.83
36 The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect? J Appl Genet 2012 0.81
37 In vivo assessment of neurodegeneration in Niemann-Pick type C mice by quantitative T2 mapping and diffusion tensor imaging. J Magn Reson Imaging 2011 0.81
38 The effects of genetic variation in N-acetyltransferases on 4-aminobiphenyl genotoxicity in mouse liver. Chem Biol Interact 2003 0.80
39 Interactions of Npc1 and amyloid accumulation/deposition in the APP/PS1 mouse model of Alzheimer's. J Appl Genet 2010 0.80
40 Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann-Pick C1. Pharmacol Biochem Behav 2011 0.79
41 A first therapy for Niemann-Pick C. Lancet Neurol 2007 0.78
42 Neural stem cell implantation extends life in Niemann-Pick C1 mice. J Appl Genet 2007 0.77
43 The role of multiple drug resistance proteins in fetal and/or placental protection against teratogen-induced orofacial clefting. Mol Reprod Dev 2007 0.77
44 N-acetyltransferase 2 activity and folate levels. Life Sci 2009 0.76
45 Number of risk genotypes is a risk factor for major depressive disorder: a case control study. Behav Brain Funct 2006 0.76
46 A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation. Am J Med Genet A 2014 0.75
47 (1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease. J Magn Reson Imaging 2012 0.75
48 A second family with dominantly inherited isolated cleft palate. J Craniofac Surg 2010 0.75
49 Cardio(blood-lymph)vascular genomics: need for a terminology adjustment. Lymphology 2003 0.75