Published in Hum Mutat on February 01, 2005
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet (2009) 7.61
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet (2009) 1.39
APC and its modifiers in colon cancer. Adv Exp Med Biol (2009) 1.28
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci (2012) 1.21
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. BMC Med (2008) 1.12
Modulation of Wnt/β-catenin signaling pathway by bioactive food components. Carcinogenesis (2011) 1.06
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet (2009) 0.94
Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol (2014) 0.90
A survey of APC mutations in Quebec. Fam Cancer (2011) 0.89
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. BMC Med Genet (2007) 0.89
Precancerous lesions in colorectal cancer. Gastroenterol Res Pract (2013) 0.86
Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet (2012) 0.85
Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update. Eur J Gastroenterol Hepatol (2014) 0.83
Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. Fam Cancer (2011) 0.83
A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family. Fam Cancer (2006) 0.83
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. Fam Cancer (2015) 0.82
APC gene mutations in Chinese familial adenomatous polyposis patients. World J Gastroenterol (2010) 0.82
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families. Fam Cancer (2009) 0.79
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. Fam Cancer (2016) 0.79
MLPA mutation detection in Argentine HNPCC and FAP families. Fam Cancer (2008) 0.79
Exploring Different Strategies for Efficient Delivery of Colorectal Cancer Therapy. Int J Mol Sci (2015) 0.78
Two different nucleotide substitutions of APC gene in a family with familial adenomatous polyposis. J Surg Case Rep (2015) 0.78
Identification of rare germline copy number variations over-represented in five human cancer types. Mol Cancer (2015) 0.78
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014. Eur J Hum Genet (2014) 0.76
A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification. J Mol Diagn (2007) 0.75
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. Fam Cancer (2015) 0.75
Tumor suppressor genes in familial adenomatous polyposis. Gastroenterol Hepatol Bed Bench (2017) 0.75
Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. Fam Cancer (2016) 0.75
Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med (2009) 22.23
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol (2010) 13.25
Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status. J Clin Oncol (2011) 8.66
Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. JAMA (2010) 8.21
Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial. J Clin Oncol (2009) 7.04
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A (2005) 3.49
KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol (2010) 3.12
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (2004) 2.97
Amphiregulin and epiregulin mRNA expression in primary tumors predicts outcome in metastatic colorectal cancer treated with cetuximab. J Clin Oncol (2009) 2.92
VEGF pathway genetic variants as biomarkers of treatment outcome with bevacizumab: an analysis of data from the AViTA and AVOREN randomised trials. Lancet Oncol (2012) 2.92
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Identification of a poor-prognosis BRAF-mutant-like population of patients with colon cancer. J Clin Oncol (2012) 2.66
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
Integrated analysis of molecular and clinical prognostic factors in stage II/III colon cancer. J Natl Cancer Inst (2012) 2.49
Implications for KRAS status and EGFR-targeted therapies in metastatic CRC. Nat Rev Clin Oncol (2009) 2.48
Long-term survival and metastatic pattern of pancreatic and periampullary cancer after adjuvant chemoradiation or observation: long-term results of EORTC trial 40891. Ann Surg (2007) 2.48
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet (2003) 2.36
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol (2009) 2.32
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. Clin Cancer Res (2009) 2.25
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Use of early tumor shrinkage to predict long-term outcome in metastatic colorectal cancer treated with cetuximab. J Clin Oncol (2013) 2.14
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Intrapatient cetuximab dose escalation in metastatic colorectal cancer according to the grade of early skin reactions: the randomized EVEREST study. J Clin Oncol (2012) 2.02
Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00
Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr (2013) 1.99
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest (2007) 1.91
Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A (2003) 1.86
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Molecular response to cetuximab and efficacy of preoperative cetuximab-based chemoradiation in rectal cancer. J Clin Oncol (2009) 1.82
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Clinical usefulness of EGFR gene copy number as a predictive marker in colorectal cancer patients treated with cetuximab: a fluorescent in situ hybridization study. Clin Cancer Res (2008) 1.80
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol (2013) 1.74
Gene expression patterns unveil a new level of molecular heterogeneity in colorectal cancer. J Pathol (2013) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A (2004) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. J Pediatr Surg (2006) 1.60
External quality assessment for KRAS testing is needed: setup of a European program and report of the first joined regional quality assessment rounds. Oncologist (2011) 1.59
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet (2003) 1.54
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Prenatal diagnosis of trisomy 17 mosaicism. Prenat Diagn (2007) 1.51
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40
The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40
Chromosome bands and ends revisited. Am J Med Genet A (2003) 1.39
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A (2014) 1.39
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38
Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer (2011) 1.36
Patent pools and diagnostic testing. Trends Biotechnol (2006) 1.36