Published in Oncogene on November 28, 2002
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
The connections between neural crest development and neuroblastoma. Curr Top Dev Biol (2011) 1.01
Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform. Genome Res (2005) 0.95
Absence of MGST1 mRNA and protein expression in human neuroblastoma cell lines and primary tissue. Free Radic Biol Med (2014) 0.75
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Dissecting the genomic complexity underlying medulloblastoma. Nature (2012) 4.77
Variants of DENND1B associated with asthma in children. N Engl J Med (2009) 4.18
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Tryptophan-derived catabolites are responsible for inhibition of T and natural killer cell proliferation induced by indoleamine 2,3-dioxygenase. J Exp Med (2002) 3.97
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study. Lancet Oncol (2009) 3.07
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 2.90
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet (2009) 2.47
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica (2007) 2.23
Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature (2010) 2.21
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) (2003) 2.05
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors. Proc Natl Acad Sci U S A (2007) 2.01
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol (2013) 1.90
Genetic variants regulating immune cell levels in health and disease. Cell (2013) 1.86
Pancreatic tumors in children and adolescents: the Italian TREP project experience. Pediatr Blood Cancer (2010) 1.80
IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet (2007) 1.77
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci (2003) 1.77
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet (2012) 1.74
Linkage disequilibrium patterns and tagSNP transferability among European populations. Am J Hum Genet (2005) 1.72
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny. Science (2013) 1.70
The netrin-1 receptors UNC5H are putative tumor suppressors controlling cell death commitment. Proc Natl Acad Sci U S A (2003) 1.69
A prospective study on the epidemiology of febrile episodes during chemotherapy-induced neutropenia in children with cancer or after hemopoietic stem cell transplantation. Clin Infect Dis (2007) 1.68
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology (2013) 1.63
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet (2011) 1.57
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A (2005) 1.53
Disseminated neuroblastoma in children older than one year at diagnosis: comparable results with three consecutive high-dose protocols adopted by the Italian Co-Operative Group for Neuroblastoma. J Clin Oncol (2003) 1.47
Comparison of 18F-dopa PET/CT and 123I-MIBG scintigraphy in stage 3 and 4 neuroblastoma: a pilot study. Eur J Nucl Med Mol Imaging (2011) 1.46
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica (2002) 1.46
Bone and lymph node metastases from neuroblastoma detected by 18F-DOPA-PET/CT and confirmed by posttherapy 131I-MIBG but negative on diagnostic 123I-MIBG scan. Clin Nucl Med (2014) 1.45
Outcome of children with neuroblastoma after progression or relapse. A retrospective study of the Italian neuroblastoma registry. Eur J Cancer (2009) 1.44
Prognostic impact of gene expression-based classification for neuroblastoma. J Clin Oncol (2010) 1.43
Mutation-independent anaplastic lymphoma kinase overexpression in poor prognosis neuroblastoma patients. Cancer Res (2009) 1.41
MDM2 SNP309 genotype is associated with ferritin and LDH serum levels in children with stage 4 neuroblastoma. Pediatr Blood Cancer (2010) 1.40
A T-cell epitope encoded by a subset of HLA-DPB1 alleles determines nonpermissive mismatches for hematologic stem cell transplantation. Blood (2003) 1.40
Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci (2005) 1.40
Learning from oncocytic tumors: Why choose inefficient mitochondria? Biochim Biophys Acta (2010) 1.40
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III. Cancer Res (2006) 1.39
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. Eur J Pediatr (2009) 1.38
CTLA-4 is constitutively expressed on tumor cells and can trigger apoptosis upon ligand interaction. Int J Cancer (2005) 1.38
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet (2011) 1.37
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis (2003) 1.36
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int (2004) 1.35
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat (2008) 1.34
ANKRD26-related thrombocytopenia and myeloid malignancies. Blood (2013) 1.32
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem (2004) 1.32
Transcribed-Ultra Conserved Region expression is associated with outcome in high-risk neuroblastoma. BMC Cancer (2009) 1.29
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet (2013) 1.27
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet (2007) 1.27
Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clin Gastroenterol Hepatol (2007) 1.26
Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med (2006) 1.26
Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia. J Med Virol (2003) 1.24
Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered (2007) 1.19
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis (2007) 1.16
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat (2013) 1.15
TOM: a web-based integrated approach for identification of candidate disease genes. Nucleic Acids Res (2006) 1.15
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet (2001) 1.15
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis (2012) 1.14
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum (2008) 1.13
Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies. J Oncol (2010) 1.12
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization. Hum Mol Genet (2009) 1.10
Statistical tools for linkage analysis and genetic association studies. Expert Rev Mol Diagn (2005) 1.10
Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res (2012) 1.09
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain (2005) 1.09
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol (2006) 1.09
Relevance of mitochondrial genetics and metabolism in cancer development. Cold Spring Harb Perspect Biol (2013) 1.08
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A (2012) 1.08
Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. Gut (2007) 1.08
Single line particle focusing induced by viscoelasticity of the suspending liquid: theory, experiments and simulations to design a micropipe flow-focuser. Lab Chip (2012) 1.08
Identification of low intratumoral gene expression heterogeneity in neuroblastic tumors by genome-wide expression analysis and game theory. Cancer (2008) 1.06
EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered (2011) 1.06
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat (2005) 1.06
Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiol Biomarkers Prev (2012) 1.06
Combined therapeutic effects of vinblastine and rapamycin on human neuroblastoma growth, apoptosis, and angiogenesis. Clin Cancer Res (2007) 1.05
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Bone marrow-infiltrating human neuroblastoma cells express high levels of calprotectin and HLA-G proteins. PLoS One (2012) 1.03
Impact of a single nucleotide polymorphism in the MDM2 gene on neuroblastoma development and aggressiveness: results of a pilot study on 239 patients. Clin Cancer Res (2008) 1.03
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A (2007) 1.03
CTLA-4 is not restricted to the lymphoid cell lineage and can function as a target molecule for apoptosis induction of leukemic cells. Blood (2002) 1.02
Retrospective study of childhood ganglioneuroma. J Clin Oncol (2008) 1.02