Published in Hum Mutat on March 01, 2007
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras. Cell Cycle (2008) 1.48
RB1 mutations and second primary malignancies after hereditary retinoblastoma. Fam Cancer (2012) 0.92
The tumor suppressor gene retinoblastoma-1 is required for retinotectal development and visual function in zebrafish. PLoS Genet (2012) 0.89
Clinical utility gene card for: retinoblastoma. Eur J Hum Genet (2010) 0.86
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. Mol Vis (2011) 0.82
RB1 gene mutations in retinoblastoma and its clinical correlation. Saudi J Ophthalmol (2010) 0.80
Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification. Mol Vis (2013) 0.79
Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. Mol Vis (2015) 0.75
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay. Eur J Hum Genet (2012) 0.75
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features. PLoS One (2015) 0.75
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1. PLoS Genet (2016) 0.75
Genetic screening in Iranian patients with retinoblastoma. Eye (Lond) (2016) 0.75
Neonatal Retinoblastoma. Asia Pac J Oncol Nurs (2017) 0.75
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. PLoS One (2017) 0.75
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Protein interaction mapping: a Drosophila case study. Genome Res (2005) 4.15
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA (2006) 4.09
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature (2011) 3.53
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 3.25
Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol (2009) 2.88
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet (2002) 2.38
Treatment of medulloblastoma with postoperative chemotherapy alone: an SFOP prospective trial in young children. Lancet Oncol (2005) 2.37
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Analysis of ototoxicity in young children receiving carboplatin in the context of conservative management of unilateral or bilateral retinoblastoma. Pediatr Blood Cancer (2009) 2.32
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol (2013) 2.32
Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst (2006) 2.25
Overall genomic pattern is a predictor of outcome in neuroblastoma. J Clin Oncol (2009) 2.21
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Hypothalamic-pituitary lesions in pediatric patients: endocrine symptoms often precede neuro-ophthalmic presenting symptoms. J Pediatr (2012) 2.02
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood (2011) 1.99
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99
2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol (2009) 1.97
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Cutting Edge: Proinflammatory and Th2 cytokines synergize to induce thymic stromal lymphopoietin production by human skin keratinocytes. J Immunol (2007) 1.90
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Inflammatory myofibroblastic tumour (inflammatory pseudotumour) of the breast. Clinicopathological and genetic analysis of a case with evidence for clonality. J Pathol (2002) 1.87
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain (2003) 1.85
Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation. Cancer Res (2012) 1.78
Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat (2008) 1.78
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat (2012) 1.77
A proposal for an international retinoblastoma staging system. Pediatr Blood Cancer (2006) 1.76
Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosomes Cancer (2004) 1.76
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet (2013) 1.69
A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). Oncogene (2003) 1.67
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. BMC Cancer (2008) 1.66
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat (2002) 1.66
Merkel cell carcinoma of the skin: pathological and molecular evidence for a causative role of MCV in oncogenesis. J Pathol (2009) 1.65
Prophylactic salpingo-oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutation. Cancer (2007) 1.63
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol (2009) 1.62
High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. Cancer Res (2009) 1.61
PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol (2002) 1.59
Identification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity. Breast Cancer Res (2007) 1.58
Targeted expression of oncogenic K-ras in intestinal epithelium causes spontaneous tumorigenesis in mice. Gastroenterology (2002) 1.57
Overexpression/amplification of HER-2/neu is uncommon in invasive carcinoma of the uterine cervix. Int J Gynecol Pathol (2004) 1.56
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors. Cancer Biol Ther (2003) 1.52
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
Identification of a proliferation gene cluster associated with HPV E6/E7 expression level and viral DNA load in invasive cervical carcinoma. Oncogene (2005) 1.50
World disparities in risk definition and management of retinoblastoma: a report from the International Retinoblastoma Staging Working Group. Pediatr Blood Cancer (2008) 1.48
Children's views on their involvement in clinical research. Pediatr Blood Cancer (2008) 1.47
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment. J Clin Endocrinol Metab (2004) 1.46
Retinoblastoma. Orphanet J Rare Dis (2006) 1.44
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Establishment and characterization of a panel of human uveal melanoma xenografts derived from primary and/or metastatic tumors. Clin Cancer Res (2010) 1.42
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A (2004) 1.39
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Accumulation of segmental alterations determines progression in neuroblastoma. J Clin Oncol (2010) 1.36
Progression-free survival in children with optic pathway tumors: dependence on age and the quality of the response to chemotherapy--results of the first French prospective study for the French Society of Pediatric Oncology. J Clin Oncol (2003) 1.33
Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Hum Mutat (2008) 1.30
Frequent genomic structural alterations at HPV insertion sites in cervical carcinoma. J Pathol (2010) 1.30
HER2 status in ovarian carcinomas: a multicenter GINECO study of 320 patients. PLoS One (2007) 1.29
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2013) 1.29
A comparison of bilateral breast cancers in BRCA carriers. Cancer Epidemiol Biomarkers Prev (2005) 1.27
Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet (2002) 1.26
Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica (2009) 1.25
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res (2011) 1.24
Ophthalmologic and intraocular non-Hodgkin's lymphoma: a large single centre study of initial characteristics, natural history, and prognostic factors. Hematol Oncol (2004) 1.23
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A (2002) 1.23
Brainstem gliomas in children and adults. Curr Opin Oncol (2008) 1.23
Genomic profiling and identification of high-risk uveal melanoma by array CGH analysis of primary tumors and liver metastases. Invest Ophthalmol Vis Sci (2009) 1.22
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
The readability of information and consent forms in clinical research in France. PLoS One (2010) 1.19
Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res (2004) 1.18