Published in J Genet Couns on February 13, 2007
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat (2010) 1.01
The negative feedback-loop between the oncomir Mir-24-1 and menin modulates the Men1 tumorigenesis by mimicking the "Knudson's second hit". PLoS One (2012) 0.89
The role of noise and positive feedback in the onset of autosomal dominant diseases. BMC Syst Biol (2010) 0.82
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell (2003) 12.50
Retracted Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome. Science (2009) 10.76
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nat Genet (2007) 4.69
The B30.2(SPRY) domain of the retroviral restriction factor TRIM5alpha exhibits lineage-specific length and sequence variation in primates. J Virol (2005) 3.63
A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry (2008) 2.82
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst (2005) 2.57
Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci U S A (2001) 2.48
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol (2002) 2.05
Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet (2002) 1.68
Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection. Virology (2006) 1.59
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. J Mol Diagn (2002) 1.54
Near infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle Nerve (2002) 1.53
Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping. BMC Genet (2008) 1.53
Susceptibility to anthrax lethal toxin-induced rat death is controlled by a single chromosome 10 locus that includes rNlrp1. PLoS Pathog (2010) 1.50
Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns (2013) 1.50
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Alpha-synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiae. Mol Biol Cell (2008) 1.48
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet (2003) 1.48
Presence of large deletions in kindreds with autism. Am J Hum Genet (2002) 1.47
Association assessment of copy number polymorphism and risk of age-related macular degeneration. Ophthalmology (2011) 1.46
Genome-wide association studies of cancer. J Clin Oncol (2010) 1.45
Molecular cloning of a brain-specific, developmentally regulated neuregulin 1 (NRG1) isoform and identification of a functional promoter variant associated with schizophrenia. J Biol Chem (2007) 1.41
Language and other regression: assessment and timing. J Autism Dev Disord (2003) 1.40
The practice of science at its best. Fertil Steril (2003) 1.38
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. Am J Ophthalmol (2006) 1.33
An exhaustive DNA micro-satellite map of the human genome using high performance computing. Genomics (2003) 1.33
Unique features of TRIM5alpha among closely related human TRIM family members. Virology (2006) 1.33
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord (2010) 1.29
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet (2004) 1.28
Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn (2004) 1.27
Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls. Arch Gen Psychiatry (2010) 1.24
Co-occurrence of celiac disease and other autoimmune diseases in celiacs and their first-degree relatives. J Autoimmun (2008) 1.20
Multilocus analysis of age-related macular degeneration. Eur J Hum Genet (2009) 1.18
Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet (2002) 1.15
The 6q22.33 locus and breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev (2009) 1.13
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS One (2010) 1.12
The signatures of autozygosity among patients with colorectal cancer. Cancer Res (2008) 1.10
Partial retraction. Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome. Science (2011) 1.10
Dopamine receptor D4 (DRD4) gene in Han Chinese children with attention-deficit/hyperactivity disorder (ADHD): increased prevalence of the 2-repeat allele. Am J Med Genet B Neuropsychiatr Genet (2005) 1.08
Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet (2003) 1.07
Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab (2007) 1.04
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Res (2006) 1.03
Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn (2002) 1.03
Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology (2007) 1.03
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A (2008) 1.03
Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Invest Ophthalmol Vis Sci (2002) 1.00
Rightward hemispheric asymmetries in auditory language cortex in children with autistic disorder: an MRI investigation. J Neurodev Disord (2009) 0.98
Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population. J Acquir Immune Defic Syndr (2005) 0.95
Antioxidant use in Friedreich ataxia. J Neurol Sci (2007) 0.95
A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord (2012) 0.94
Pharmacotherapy for Friedreich ataxia. CNS Drugs (2009) 0.94
CYP1A1 and GSTM1 polymorphisms in relation to lung cancer risk in Chinese women. Cancer Lett (2004) 0.94
Nuclear and mitochondrial genome defects in autisms. Ann N Y Acad Sci (2009) 0.93
Identification of quantitative trait loci for prepulse inhibition in rats. Psychopharmacology (Berl) (2002) 0.93
Somatic alterations contributing to metastasis of a castration-resistant prostate cancer. Hum Mutat (2013) 0.92
Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms. PLoS One (2011) 0.91
A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes. Invest Ophthalmol Vis Sci (2006) 0.89
Increased IRP1 activity in Friedreich ataxia. Gene (2005) 0.88
Strong association of fascin expression with triple negative breast cancer and basal-like phenotype in African-American women. J Clin Pathol (2013) 0.88
Health related quality of life measures in Friedreich Ataxia. J Neurol Sci (2008) 0.87
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Hum Genet (2011) 0.87
Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. J Mol Diagn (2010) 0.87
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord (2008) 0.86
Carrier frequency of spinal muscular atrophy. Lancet (2008) 0.86
Lack of Duffy antigen receptor for chemokines: no influence on HIV disease progression in an African treatment-naive population. Cell Host Microbe (2009) 0.85
Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features. Mov Disord (2008) 0.84
Bayesian analysis and risk assessment in genetic counseling and testing. J Mol Diagn (2004) 0.83
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations. Hum Mutat (2004) 0.82
A random shRNA-encoding library for phenotypic selection and hit-optimization. PLoS One (2008) 0.82
Retrospective family study of childhood medulloblastoma. Am J Med Genet A (2005) 0.81
Unanswered questions in Friedreich ataxia. J Child Neurol (2012) 0.80
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLoS One (2012) 0.80
Primary and secondary drug screening assays for Friedreich ataxia. J Biomol Screen (2011) 0.80
Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening. Genet Med (2004) 0.80
Is the alcohol deprivation effect genetically mediated? Studies with HXB/BXH recombinant inbred rat strains. Alcohol Clin Exp Res (2014) 0.79
SMN dosage analysis and risk assessment for spinal muscular atrophy. Am J Hum Genet (2002) 0.78
Mortality in Friedreich's Ataxia. Tex Heart Inst J (2007) 0.77
A case of ischemic colitis associated with factor V Leiden mutation: successful treatment with anticoagulation. Gastrointest Endosc (2007) 0.76
CLO test in Helicobacter gastritis. ANZ J Surg (2008) 0.75
An analysis pipeline for genome-wide association studies. Cancer Inform (2008) 0.75
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet (2003) 0.75
Comment on SMN2 deletion in childhood-onset spinal muscular atrophy. Am J Med Genet (2002) 0.75
Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. Genet Med (2005) 0.75
2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USA. Neuromuscul Disord (2004) 0.75
Helicobacter pylori eradication: a novel therapeutic option in chronic immune thrombocytopenic purpura. Med J Aust (2008) 0.75
Counseling molecular diagnostics. Drug Discov Today (2002) 0.75
Transferrin receptor hyperexpression in primary erythroblasts is lost on transformation by avian erythroblastosis virus. Blood (2002) 0.75