Published in Science on March 29, 2013
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Applying evolutionary biology to address global challenges. Science (2014) 1.90
Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate. PLoS Biol (2013) 1.33
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One (2014) 1.14
Clinical implementation of germ line cancer pharmacogenetic variants during the next-generation sequencing era. Clin Pharmacol Ther (2013) 1.10
Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions. Nucleic Acids Res (2014) 1.01
Polymorphisms in DNA repair genes XRCC2 and XRCC3 risk of gastric cancer in Turkey. Bosn J Basic Med Sci (2014) 0.86
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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Hum Genomics (2015) 0.79
Personalized medicine and the clinical laboratory. Einstein (Sao Paulo) (2014) 0.75
Preventing prejudice in genome profiling. Science (2013) 0.75
Stem cell systems informatics for advanced clinical biodiagnostics: tracing molecular signatures from bench to bedside. Croat Med J (2013) 0.75
GWATCH: a web platform for automated gene association discovery analysis. Gigascience (2014) 0.75
The cost and cost trajectory of whole-genome analysis guiding treatment of patients with advanced cancers. Mol Genet Genomic Med (2017) 0.75
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Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene (2000) 1.83
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet (2001) 1.81
Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet (1999) 1.79
LKB1 somatic mutations in sporadic tumors. Am J Pathol (1999) 1.79
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Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet (2005) 1.61
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet (2006) 1.56
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet (1999) 1.56
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Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res (1997) 1.47
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The I1307K polymorphism of the APC gene in colorectal cancer. Gastroenterology (1999) 1.43
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Gene expression signatures for colorectal cancer microsatellite status and HNPCC. Br J Cancer (2005) 1.40
Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. Br J Cancer (2009) 1.40
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol (1999) 1.38
The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck. J Med Genet (2005) 1.34
Somatic microsatellite mutations as molecular tumor clocks. Nat Med (1996) 1.31
Screening for microsatellite instability target genes in colorectal cancers. J Med Genet (2002) 1.29
Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers. Proc Natl Acad Sci U S A (1999) 1.28
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. Br J Cancer (2012) 1.24
Extensive somatic microsatellite mutations in normal human tissue. Cancer Res (2001) 1.22
Frequent loss of SMAD4/DPC4 protein in colorectal cancers. Gut (2002) 1.18
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet (1994) 1.18
Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. J Med Genet (1999) 1.16
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. Proc Natl Acad Sci U S A (1994) 1.14
CHEK2 1100delC and colorectal cancer. J Med Genet (2003) 1.12
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Br J Cancer (2010) 1.11
The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers. J Med Genet (2000) 1.11
No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas. Cancer Res (2000) 1.11
CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet (2006) 1.10
No SMAD4 hypermethylation in colorectal cancer. Br J Cancer (2000) 1.10
SMAD genes in juvenile polyposis. Genes Chromosomes Cancer (1999) 1.10
Features of gastric cancer in hereditary non-polyposis colorectal cancer syndrome. Int J Cancer (1997) 1.06
Comparison of serous and mucinous ovarian carcinomas: distinct pattern of allelic loss at distal 8p and expression of transcription factor GATA-4. Lab Invest (2001) 1.05
Differential expression of DHHC9 in microsatellite stable and instable human colorectal cancer subgroups. Br J Cancer (2007) 1.02
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet (2007) 0.97
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene (1998) 0.97
Allelic analysis of serous ovarian carcinoma reveals two putative tumor suppressor loci at 18q22-q23 distal to SMAD4, SMAD2, and DCC. Am J Pathol (2001) 0.96
No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol (2002) 0.95
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. Am J Pathol (2001) 0.92
Tracing cell fates in human colorectal tumors from somatic microsatellite mutations: evidence of adenomas with stem cell architecture. Am J Pathol (1998) 0.91
Complexity of 12q13-22 amplicon in liposarcoma: microsatellite repeat analysis. Genes Chromosomes Cancer (1997) 0.90
E-cadherin is not frequently mutated in hereditary gastric cancer. J Med Genet (2001) 0.89
[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]. Duodecim (1998) 0.89
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet (2006) 0.89
Genetic predisposition and somatic diversification in tumor development and progression. Adv Cancer Res (2001) 0.88
CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. Br J Cancer (2001) 0.88
No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. Endocr Relat Cancer (2007) 0.87
Telomerase activity is commonly detected in hereditary nonpolyposis colorectal cancers. Am J Pathol (1996) 0.87
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas. Oncogene (2009) 0.86
Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer. Am J Pathol (2000) 0.86
No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer. Oncogene (2006) 0.83
The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population. Gut (2005) 0.83
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. J Endocrinol Invest (2009) 0.82
Strategies for screening for hereditary non-polyposis colorectal cancer. J Med Genet (1999) 0.82
Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet (2003) 0.82
PTEN and LKB1 genes in laryngeal tumours. J Med Genet (1999) 0.81
Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene. Oncogene (1998) 0.81
Effects of mutation and growth rates on patterns of microsatellite instability. Am J Pathol (1996) 0.81
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. Br J Cancer (2007) 0.80
No fumarate hydratase (FH) mutations in hereditary prostate cancer. J Med Genet (2003) 0.79
Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome. Br J Cancer (2005) 0.79
Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. J Endocrinol Invest (2009) 0.79
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease. J Med Genet (2007) 0.78
Characterization of the 17p amplicon in human sarcomas: microsatellite marker analysis. Int J Cancer (1999) 0.76
Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation. J Med Genet (2003) 0.76
No evidence of microsatellite instability in bone tumours. Br J Cancer (1996) 0.76
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. J Med Genet (2005) 0.76
A missense mutation in the BRCA2 gene in three siblings with ovarian cancer. Br J Cancer (1998) 0.76
Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm. J Med Genet (2001) 0.76
Microsatellite markers as tools for characterization of DNA amplifications evaluated by comparative genomic hybridization. Cancer Genet Cytogenet (1997) 0.76