Published in Can J Ophthalmol on October 01, 2005
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science (2002) 6.53
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell (2012) 6.07
Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet (2005) 3.56
Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples. Acta Neuropathol (2011) 2.53
Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations. J Natl Cancer Inst (2006) 2.42
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol (2013) 2.34
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet (2002) 2.29
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A (2008) 2.22
BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet (2002) 2.13
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol (2011) 1.85
The need for standardization of antiretinal antibody detection and measurement. Am J Ophthalmol (2008) 1.83
Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma. Cancer Res (2010) 1.81
Hypoxia enhances tumor stemness by increasing the invasive and tumorigenic side population fraction. Stem Cells (2008) 1.78
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. J Clin Oncol (2010) 1.74
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet (2013) 1.66
Copy number variations and cancer. Genome Med (2009) 1.59
Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol (2014) 1.56
Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci (2006) 1.53
Biology of childhood osteogenic sarcoma and potential targets for therapeutic development: meeting summary. Clin Cancer Res (2003) 1.52
TP53 mutations and outcome in osteosarcoma: a prospective, multicenter study. J Clin Oncol (2005) 1.50
Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics (2010) 1.47
Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. J Clin Oncol (2013) 1.43
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet (2006) 1.41
De-escalation of therapy for pediatric medulloblastoma: trade-offs between quality of life and survival. Pediatr Blood Cancer (2014) 1.39
Adult ovarian retinoblastoma genomic profile distinct from prior childhood eye tumor. Arch Ophthalmol (2011) 1.39
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res (2007) 1.38
Factors influencing survival in children with recurrent neuroblastoma. J Pediatr Hematol Oncol (2004) 1.36
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma. Acta Neuropathol (2013) 1.35
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol (2008) 1.33
Gene expression profiling of childhood adrenocortical tumors. Cancer Res (2007) 1.32
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Floral morphogenesis: stochastic explorations of a gene network epigenetic landscape. PLoS One (2008) 1.27
Human telomere reverse transcriptase expression predicts progression and survival in pediatric intracranial ependymoma. J Clin Oncol (2006) 1.25
Retracted Copy number variations and cancer susceptibility. Curr Opin Oncol (2010) 1.24
Vascular endothelial growth factor acts in an autocrine manner in rhabdomyosarcoma cell lines and can be inhibited with all-trans-retinoic acid. Oncogene (2005) 1.22
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. Arch Ophthalmol (2008) 1.21
CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci (2004) 1.21
CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis (2005) 1.16
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci (2004) 1.12
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet (2007) 1.09
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vision Res (2007) 1.08
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. Invest Ophthalmol Vis Sci (2013) 1.08
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol (2002) 1.06
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. PLoS Genet (2008) 1.06
The role of telomere maintenance in the spontaneous growth arrest of pediatric low-grade gliomas. Neoplasia (2006) 1.06
Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancer. Psychooncology (2004) 1.05
High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography. J AAPOS (2009) 1.05
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet (2012) 1.04
Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome. Pediatr Hematol Oncol (2004) 1.03
Connecting molecular pathways to hereditary cancer risk syndromes. Am Soc Clin Oncol Educ Book (2013) 1.03
Hereditary cancer predisposition in children: genetic basis and clinical implications. Int J Cancer (2006) 1.03
BBS mutational analysis: a strategic approach. Ophthalmic Genet (2011) 1.03
Neonatal genital herpes simplex virus type 1 infection after Jewish ritual circumcision: modern medicine and religious tradition. Pediatrics (2004) 1.03
Prosthetic conformers: a step towards improved rehabilitation of enucleated children. Clin Experiment Ophthalmol (2002) 1.03
Squalene selectively protects mouse bone marrow progenitors against cisplatin and carboplatin-induced cytotoxicity in vivo without protecting tumor growth. Neoplasia (2008) 1.03
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet (2010) 1.02
Neural tumor-initiating cells have distinct telomere maintenance and can be safely targeted for telomerase inhibition. Clin Cancer Res (2011) 1.02
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis (2008) 1.02
JNK1 determines the oncogenic or tumor-suppressive activity of the integrin-linked kinase in human rhabdomyosarcoma. J Clin Invest (2009) 1.01
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res (2007) 0.99
Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. Acta Ophthalmol (2010) 0.98
New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort. Cancer Biol Ther (2011) 0.98
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Invest Ophthalmol Vis Sci (2011) 0.98
Metastatic rhabdomyosarcoma: a retrospective review of patients treated at the hospital for sick children between 1989 and 1999. J Pediatr Hematol Oncol (2004) 0.98
TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol (2010) 0.97
Differentiation of rhabdomyosarcoma cell lines using retinoic acid. Pediatr Blood Cancer (2006) 0.97
Routine TP53 testing for breast cancer under age 30: ready for prime time? Fam Cancer (2012) 0.96
Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome. Cancer Res (2008) 0.96
Expression of insulin-like growth factor pathway proteins in rhabdomyosarcoma: IGF-2 expression is associated with translocation-negative tumors. Pediatr Dev Pathol (2008) 0.96
The CXCR4-SDF1alpha axis is a critical mediator of rhabdomyosarcoma metastatic signaling induced by bone marrow stroma. Clin Exp Metastasis (2007) 0.95
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina (2012) 0.95
Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol (2014) 0.95
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer (2013) 0.94
Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumors. Cancer Res (2011) 0.94
A phase I and pharmacokinetic study of ecteinascidin-743 (Yondelis) in children with refractory solid tumors. A Children's Oncology Group study. Clin Cancer Res (2005) 0.93
Expression of p53 in renal carcinoma cells is independent of pVHL. Mutat Res (2005) 0.92
Lymphomatous involvement of the heart in children: two cases and a review of the literature. J Pediatr Hematol Oncol (2004) 0.92
A pilot study of low-dose anti-angiogenic chemotherapy in combination with standard multiagent chemotherapy for patients with newly diagnosed metastatic Ewing sarcoma family of tumors: A Children's Oncology Group (COG) Phase II study NCT00061893. Pediatr Blood Cancer (2012) 0.91
Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting. Genet Med (2013) 0.91
Periocular topotecan for intraocular retinoblastoma. Arch Ophthalmol (2011) 0.91
Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet (2006) 0.90
Management and outcome of unilateral retinoblastoma. J AAPOS (2009) 0.90
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet (2010) 0.90
Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatr Blood Cancer (2011) 0.90
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis (2011) 0.89
Canadian guidelines for retinoblastoma care. Can J Ophthalmol (2009) 0.89
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Invest Ophthalmol Vis Sci (2004) 0.88
Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet (2003) 0.88
Novel 6p rearrangements and recurrent translocation breakpoints in retinoblastoma cell lines identified by spectral karyotyping and mBAND analyses. Cancer Genet Cytogenet (2007) 0.87
Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease. Can J Ophthalmol (2007) 0.87