PubRank

Astrid Rasmussen

Author PubWeight™ 29.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004 1.98
2 Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet 2013 1.79
3 Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet 2012 1.41
4 Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol 2007 1.29
5 Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics 2006 1.24
6 Genome-wide DNA methylation patterns in naive CD4+ T cells from patients with primary Sjögren's syndrome. Arthritis Rheumatol 2014 1.20
7 Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 2007 1.13
8 Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics 2013 1.11
9 Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet 2013 1.10
10 Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 2004 1.08
11 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet 2002 1.05
12 Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum 2010 1.04
13 Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet 2002 1.02
14 Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol 2004 1.01
15 Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum 2012 1.01
16 Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One 2013 0.86
17 Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. Hum Mol Genet 2013 0.85
18 Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet 2007 0.84
19 Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord 2007 0.84
20 Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. Neuroreport 2003 0.84
21 Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Neurosci Lett 2006 0.83
22 Apolipoprotein E epsilon4 allele is associated with Parkinson disease risk in a Mexican Mestizo population. Mov Disord 2007 0.82
23 Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. Epilepsy Res 2002 0.82
24 Clinical and genetic characteristics of Mexican Huntington's disease patients. Mov Disord 2009 0.81
25 DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. Epilepsia 2009 0.81
26 Antibody-secreting cell specificity in labial salivary glands reflects the clinical presentation and serology in patients with Sjögren's syndrome. Arthritis Rheumatol 2014 0.81
27 Presymptomatic diagnosis in Huntington's disease: the Mexican experience. Genet Test Mol Biomarkers 2009 0.81
28 Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics 2004 0.81
29 Recent developments in the quest for myoclonic epilepsy genes. Epilepsia 2003 0.79
30 Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. Clin Experiment Ophthalmol 2010 0.76
31 Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. Adv Neurol 2005 0.75