Published in Nat Genet on October 02, 2011
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med (2012) 10.16
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature (2013) 3.40
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet (2012) 2.29
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature (2014) 1.89
Discovery of common variants associated with low TSH levels and thyroid cancer risk. Nat Genet (2012) 1.81
Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol (2016) 1.76
Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. Cold Spring Harb Perspect Biol (2015) 1.73
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J Natl Cancer Inst (2015) 1.70
Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet (2013) 1.55
Rethinking ovarian cancer II: reducing mortality from high-grade serous ovarian cancer. Nat Rev Cancer (2015) 1.53
Update of the human and mouse Fanconi anemia genes. Hum Genomics (2015) 1.46
Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden. Hered Cancer Clin Pract (2015) 1.40
Evolution of the cancer genome. Trends Genet (2012) 1.22
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Hum Mol Genet (2014) 1.21
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer (2012) 1.14
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. PLoS Genet (2013) 1.10
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 1.04
BRCA1 tumor suppressor network: focusing on its tail. Cell Biosci (2012) 1.03
Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int (2013) 1.01
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol (2015) 1.01
Fast and accurate long-range phasing in a UK Biobank cohort. Nat Genet (2016) 1.00
Hereditary breast cancer: ever more pieces to the polygenic puzzle. Hered Cancer Clin Pract (2013) 0.99
PARP inhibitors in ovarian cancer. Br J Cancer (2015) 0.97
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. Fam Cancer (2012) 0.96
Emerging critical roles of Fe-S clusters in DNA replication and repair. Biochim Biophys Acta (2015) 0.96
Large-scale RNA-Seq Transcriptome Analysis of 4043 Cancers and 548 Normal Tissue Controls across 12 TCGA Cancer Types. Sci Rep (2015) 0.95
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome. Cell Mol Life Sci (2014) 0.95
Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. Front Oncol (2015) 0.95
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Am J Hum Genet (2012) 0.94
Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer (2016) 0.94
Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate. PLoS Genet (2014) 0.92
Interplay between Fanconi anemia and homologous recombination pathways in genome integrity. EMBO J (2016) 0.92
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia. Front Genet (2014) 0.91
Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae. PLoS One (2013) 0.89
Mutated Fanconi anemia pathway in non-Fanconi anemia cancers. Oncotarget (2015) 0.88
Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. Carcinogenesis (2015) 0.88
Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol (2016) 0.87
Telomere-regulating genes and the telomere interactome in familial cancers. Mol Cancer Res (2014) 0.87
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Mod Pathol (2016) 0.87
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. J Clin Oncol (2016) 0.85
Ovarian cancer biomarker discovery based on genomic approaches. J Cancer Prev (2013) 0.84
Loss of BRCA1-A complex function in RAP80 null tumor cells. PLoS One (2012) 0.83
A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects. J Med Genet (2015) 0.82
Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO). J Gynecol Oncol (2016) 0.81
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Fam Cancer (2012) 0.81
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet (2016) 0.79
Update on Poly-ADP-ribose polymerase inhibition for ovarian cancer treatment. J Transl Med (2016) 0.79
Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations. J Biol Chem (2014) 0.79
The future of clinical cancer genomics. Semin Oncol (2016) 0.79
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. Genes Dev (2015) 0.78
Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice. J Cancer (2016) 0.78
UK BRCA mutation testing in patients with ovarian cancer. Br J Cancer (2015) 0.78
A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck. Tumour Biol (2015) 0.77
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. J Med Genet (2015) 0.77
Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations. Am J Hum Genet (2015) 0.77
FANCJ at the FORK. Mutat Res (2016) 0.76
Case-control association mapping by proxy using family history of disease. Nat Genet (2017) 0.76
Inferring polymorphism-induced regulatory gene networks active in human lymphocyte cell lines by weighted linear mixed model analysis of multiple RNA-Seq datasets. PLoS One (2013) 0.76
Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. Mod Pathol (2016) 0.76
Absence of DICER1, CTCF, RPL22, DNMT3A, TRRAP, IDH1 and IDH2 hotspot mutations in patients with various subtypes of ovarian carcinomas. Biomed Rep (2014) 0.75
Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk. Fam Cancer (2015) 0.75
BRIP1 inhibits the tumorigenic properties of cervical cancer by regulating RhoA GTPase activity. Oncol Lett (2015) 0.75
Genetic characterization of early onset ovarian carcinoma. Gynecol Oncol (2015) 0.75
Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report. Case Rep Oncol (2016) 0.75
An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium. Carcinogenesis (2016) 0.75
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. PeerJ (2017) 0.75
Lentivirus-mediated shRNA interference of clusterin blocks proliferation, motility, invasion and cell cycle in the ovarian cancer cells. J Ovarian Res (2015) 0.75
Cataloging antineoplastic agents according to their effectiveness against platinum-resistant and platinum-sensitive ovarian carcinoma cell lines. J Transl Sci (2016) 0.75
Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach. Oncotarget (2016) 0.75
Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles. Genes (Basel) (2016) 0.75
Evolutionary patterns of DNA base composition and correlation to polymorphisms in DNA repair systems. Nucleic Acids Res (2015) 0.75
Genetic testing and personalized ovarian cancer screening: a survey of public attitudes. BMC Womens Health (2016) 0.75
Epigenetic and genetic components of height regulation. Nat Commun (2016) 0.75
Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev (2017) 0.75
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. Eur J Hum Genet (2017) 0.75
PARP inhibitors: Clinical utility and possibilities of overcoming resistance. Gynecol Oncol (2017) 0.75
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids. Nucleic Acids Res (2017) 0.75
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. Oncotarget (2017) 0.75
Recent advances in targeting DNA repair pathways for the treatment of ovarian cancer and their clinical relevance. Int J Clin Oncol (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer (2010) 90.16
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet (2008) 9.69
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72
The BRCT domain is a phospho-protein binding domain. Science (2003) 7.42
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell (2001) 5.05
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet (2005) 4.92
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet (1996) 4.38
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Age- and gender-specific reference values of estimated GFR in Caucasians: the Nijmegen Biomedical Study. Kidney Int (2007) 4.26
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet (2011) 3.94
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell (2005) 3.44
The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet (2005) 2.86
Identification of low-frequency variants associated with gout and serum uric acid levels. Nat Genet (2011) 2.48
Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. Mol Cell Biol (2007) 1.72
A systematic review and meta-analysis of family history and risk of ovarian cancer. Br J Obstet Gynaecol (1998) 1.70
BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol (1998) 1.68
The contribution of BRCA1 and BRCA2 to ovarian cancer. Mol Oncol (2009) 1.62
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet (2000) 1.27
The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol (2005) 1.23
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. Future Oncol (2011) 1.11
A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. Am J Hum Genet (1994) 1.11
BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. Eur J Cancer (2004) 0.97
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Prostate-cancer mortality at 11 years of follow-up. N Engl J Med (2012) 16.91
Bevacizumab in combination with oxaliplatin-based chemotherapy as first-line therapy in metastatic colorectal cancer: a randomized phase III study. J Clin Oncol (2008) 15.17
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
A common variant associated with prostate cancer in European and African populations. Nat Genet (2006) 13.47
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Many sequence variants affecting diversity of adult human height. Nat Genet (2008) 12.80
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet (2008) 12.43