PubRank

Arif B Ekici

Author PubWeight™ 152.73‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012 8.42
2 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013 8.24
3 Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2010 4.51
4 A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet 2009 4.38
5 Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 2013 4.35
6 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
7 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 2010 3.86
8 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 2013 3.81
9 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet 2013 3.42
10 A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 2011 3.37
11 Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 2012 3.20
12 Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 2009 2.88
13 Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011 2.72
14 Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 2010 2.56
15 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet 2012 2.45
16 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 2009 2.41
17 Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet 2013 2.24
18 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 2012 2.12
19 The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res 2011 2.09
20 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 2005 2.04
21 Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet 2011 1.84
22 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res 2012 1.81
23 Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun 2013 1.73
24 Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res 2011 1.65
25 ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas. Gynecol Oncol 2013 1.61
26 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat 2010 1.59
27 NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet 2011 1.56
28 Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet 2011 1.56
29 Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet 2013 1.56
30 Cohen syndrome diagnosis using whole genome arrays. J Med Genet 2010 1.55
31 Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Breast Cancer Res 2010 1.51
32 MicroRNA profiles of prostate carcinoma detected by multiplatform microRNA screening. Int J Cancer 2011 1.47
33 MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat 2014 1.45
34 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet 2011 1.42
35 Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet 2005 1.40
36 Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet 2013 1.39
37 Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun 2013 1.36
38 A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 2003 1.31
39 Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 2009 1.29
40 CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 2012 1.29
41 Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 2013 1.28
42 Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Pharmacogenet Genomics 2011 1.27
43 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat 2012 1.26
44 Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J 2010 1.25
45 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 2011 1.24
46 Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet 2010 1.23
47 Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev 2011 1.23
48 The role of genetic breast cancer susceptibility variants as prognostic factors. Hum Mol Genet 2012 1.23
49 Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer 2011 1.17
50 Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. J Natl Cancer Inst 2010 1.17
51 Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 2007 1.15
52 Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet 2010 1.14
53 Assessment of hepatocyte growth factor in ovarian cancer mortality. Cancer Epidemiol Biomarkers Prev 2011 1.14
54 Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One 2012 1.13
55 Rare copy number variants are a common cause of short stature. PLoS Genet 2013 1.10
56 The German Chronic Kidney Disease (GCKD) study: design and methods. Nephrol Dial Transplant 2011 1.09
57 Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiol Biomarkers Prev 2012 1.02
58 De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet 2013 1.01
59 A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium. Hum Mol Genet 2013 1.00
60 Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res 2014 0.99
61 Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet 2013 0.99
62 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 2012 0.95
63 GPFrontend and GPGraphics: graphical analysis tools for genetic association studies. BMC Bioinformatics 2010 0.94
64 Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome. Cancer Epidemiol Biomarkers Prev 2013 0.92
65 Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev 2010 0.91
66 Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum 2013 0.91
67 A defect of CD16-positive monocytes can occur without disease. Immunobiology 2012 0.90
68 Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. Int J Cancer 2014 0.90
69 Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Hum Genet 2014 0.89
70 Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10. Cancer Res 2013 0.89
71 Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: Emergence of new molecular targets. Oncotarget 2012 0.87
72 Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. Genet Epidemiol 2013 0.86
73 A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Eur J Med Genet 2008 0.86
74 Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region. PLoS One 2013 0.86
75 Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet 2013 0.86
76 FcgammaRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease. Atherosclerosis 2009 0.85
77 HER2 and TOP2A amplification in a hospital-based cohort of breast cancer patients: associations with patient and tumor characteristics. Breast Cancer Res Treat 2014 0.84
78 The 5-HTTLPR polymorphism modulates the influence on environmental stressors on peripartum depression symptoms. J Affect Disord 2011 0.84
79 Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium. PLoS One 2011 0.83
80 Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy. Acta Obstet Gynecol Scand 2010 0.83
81 Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. Cancer Immunol Res 2014 0.82
82 The UGT1A6_19_GG genotype is a breast cancer risk factor. Front Genet 2013 0.82
83 NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A 2014 0.81
84 Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiol Biomarkers Prev 2012 0.81
85 Rho-A prenylation and signaling link epithelial homeostasis to intestinal inflammation. J Clin Invest 2016 0.80
86 HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A 2014 0.80
87 Genetic variants in the tryptophan hydroxylase 2 gene (TPH2) and depression during and after pregnancy. J Psychiatr Res 2012 0.80
88 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. J Med Genet 2011 0.80
89 Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy. Breast Cancer Res 2015 0.79
90 Loss of MTUS1/ATIP expression is associated with adverse outcome in advanced bladder carcinomas: data from a retrospective study. BMC Cancer 2014 0.78
91 Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia. Am J Med Genet B Neuropsychiatr Genet 2011 0.78
92 Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy. Pharmacogenomics 2010 0.78
93 Neurokinin 1 receptor gene polymorphism might be correlated with recurrence rates in endometriosis. Gynecol Endocrinol 2009 0.77
94 Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. Mol Nutr Food Res 2014 0.77
95 The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant. Breast Cancer Res Treat 2011 0.76
96 Patients with unstable angina pectoris show an increased frequency of the Fc gamma RIIa R131 allele. Autoimmunity 2012 0.75
97 Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2015 0.75
98 Biallelic SEMA3A defects cause a novel type of syndromic short stature. Am J Med Genet A 2013 0.75
99 Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. Eur J Med Genet 2011 0.75
100 [Gene polymorphisms leading to calcified and stenotic aortic valves]. Herz 2006 0.75
101 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development. Eur J Med Genet 2008 0.75