PubRank

Sarah Edkins

Author PubWeight™ 430.78‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations of the BRAF gene in human cancer. Nature 2002 65.42
2 Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 2008 43.63
3 Patterns of somatic mutation in human cancer genomes. Nature 2007 38.41
4 A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2009 24.27
5 A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2009 18.39
6 Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010 14.50
7 Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 2009 13.45
8 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011 13.23
9 Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 2010 12.27
10 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012 11.09
11 Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet 2009 10.21
12 Signatures of mutation and selection in the cancer genome. Nature 2010 9.75
13 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010 8.48
14 Lung cancer: intragenic ERBB2 kinase mutations in tumours. Nature 2004 8.35
15 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009 8.30
16 Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res 2005 7.66
17 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013 7.44
18 A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy. Cancer Res 2006 6.91
19 Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution. Genome Res 2007 6.91
20 A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. Nat Genet 2005 6.70
21 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet 2011 6.36
22 Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Nature 2007 5.65
23 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 2011 5.56
24 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet 2012 4.73
25 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet 2013 4.62
26 Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 2009 4.61
27 Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res 2002 4.46
28 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet 2012 4.46
29 Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet 2010 4.42
30 PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data. Biostatistics 2009 4.31
31 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 2014 4.13
32 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet 2012 4.13
33 Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. Mol Cancer Ther 2006 4.09
34 Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet 2012 3.40
35 Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 2010 3.34
36 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet 2013 3.25
37 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
38 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet 2013 2.60
39 Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. Genes Chromosomes Cancer 2006 2.50
40 A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 2006 2.35
41 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 2007 2.35
42 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008 2.16
43 Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006 2.08
44 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007 2.07
45 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004 2.04
46 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007 2.02
47 X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008 1.95
48 The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood 2005 1.91
49 Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet 2006 1.85
50 Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet 2008 1.82
51 Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet 2007 1.73
52 Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am J Hum Genet 2011 1.60
53 Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat Genet 2012 1.52
54 Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nat Genet 2011 1.30
55 Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet 2007 1.26
56 Imputation-based meta-analysis of severe malaria in three African populations. PLoS Genet 2013 1.25
57 Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nat Genet 2013 1.15
58 High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison. Genomics 2006 1.08
59 A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A 2007 1.02
60 A variant in LDLR is associated with abdominal aortic aneurysm. Circ Cardiovasc Genet 2013 1.00
61 GLO1-A novel amplified gene in human cancer. Genes Chromosomes Cancer 2010 0.99
62 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur J Hum Genet 2009 0.99
63 An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies. PLoS One 2011 0.91
64 A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation. Biol Psychiatry 2013 0.87