Published in Am J Med Genet B Neuropsychiatr Genet on April 05, 2008
Potential stigma associated with inclusion of the psychosis risk syndrome in the DSM-V: an empirical question. Schizophr Res (2010) 1.41
Civilian and military genetics: nondiscrimination policy in a post-GINA world. Am J Hum Genet (2008) 1.24
Personal factors associated with reported benefits of Huntington disease family history or genetic testing. Genet Test Mol Biomarkers (2010) 1.06
Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study. Am J Med Genet B Neuropsychiatr Genet (2010) 1.05
Caregiving by teens for family members with Huntington disease. J Fam Nurs (2009) 1.04
The emotional experiences of family carers in Huntington disease. J Adv Nurs (2009) 1.03
Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act. Fam Cancer (2012) 0.99
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In their own words: reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND-HD study. Am J Med Genet B Neuropsychiatr Genet (2010) 0.93
Neuroprotection for Huntington's disease: ready, set, slow. Neurotherapeutics (2008) 0.92
Couples' attributions for work function changes in prodromal Huntington disease. J Genet Couns (2010) 0.90
Legal update: living with the Genetic Information Nondiscrimination Act. Genet Med (2008) 0.90
Ethical issues of predictive genetic testing for diabetes. J Diabetes Sci Technol (2009) 0.89
Huntington disease: families' experiences of healthcare services. J Adv Nurs (2010) 0.86
Perception, experience, and response to genetic discrimination in Huntington's disease: the Australian results of The International RESPOND-HD study. Genet Test Mol Biomarkers (2013) 0.83
Global trends on fears and concerns of genetic discrimination: a systematic literature review. J Hum Genet (2016) 0.83
Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study. Eur J Hum Genet (2012) 0.82
Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2010) 0.82
Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors. J Genet Couns (2010) 0.81
Early Detection of Huntington Disease. Future Neurol (2010) 0.79
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A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer (1997) 2.53
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet (1992) 2.39
Individual, family, and societal dimensions of genetic discrimination: a case study analysis. Sci Eng Ethics (1996) 2.25
Genetic discrimination: perspectives of consumers. Science (1996) 2.13
Psychological costs and benefits of predictive testing for Huntington's disease. Am J Med Genet (1994) 1.94
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Attitudes of persons at risk for Huntington disease toward predictive testing. Am J Med Genet (1987) 1.77
Reluctance to undergo predictive testing: the case of Huntington disease. Am J Med Genet (1993) 1.42
Objective knowledge about Huntington's disease and attitudes towards predictive tests of persons at risk. J Med Genet (1981) 1.41
Discovering fragile X syndrome: family experiences and perceptions. Pediatrics (2003) 1.34
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet (2003) 1.26
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Genetic testing and Huntington's disease: issues of employment. Lancet Neurol (2004) 1.11
Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. J Med Genet (1998) 1.08
The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington's disease. Clin Genet (1989) 1.05
A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. J Natl Cancer Inst (1996) 1.01
Risk Perception and Decision-making Processes in Candidates for Genetic Testing for Huntington's Disease: An Interpretative Phenomenological Analysis. J Health Psychol (2002) 1.01
Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders. Res Nurs Health (2000) 1.01
Methodological considerations in the study of genetic discrimination. Community Genet (2004) 0.95
Psychosocial impact of predictive testing for Huntington disease on support persons. Am J Med Genet (2000) 0.91
Testing for Huntington's disease with support for all parties. Lancet (1990) 0.89
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Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status. Am J Med Genet (1997) 0.84
Genetic privacy laws and patients' fear of discrimination by health insurers: the view from genetic counselors. J Law Med Ethics (2000) 0.83
Adults seeking presymptomatic gene testing for Huntington disease. Image J Nurs Sch (1999) 0.82
Major study commencing into genetic discrimination in Australia. J Law Med (2002) 0.81
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Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (2003) 5.82
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet (2003) 4.76
Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin. Cell (2006) 4.53
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci (2002) 4.15
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. Hum Mol Genet (2003) 4.07
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Nat Genet (2009) 3.83
Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment. Nat Med (2007) 3.53
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. J Clin Invest (2005) 3.25
Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1. Neuron (2003) 3.25
Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease. Neuron (2002) 3.15
Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron (2004) 3.04
Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms. Nature (2004) 2.98
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet (2002) 2.90
Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity. Nat Med (2011) 2.87
Central nervous system depression of neonates breastfed by mothers receiving oxycodone for postpartum analgesia. J Pediatr (2011) 2.86
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J Exp Med (2008) 2.78
Psychiatric symptoms in Huntington's disease before diagnosis: the predict-HD study. Biol Psychiatry (2007) 2.71
Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. Nat Med (2009) 2.66
National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med (2009) 2.58
Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation. Arterioscler Thromb Vasc Biol (2006) 2.55
Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. J Clin Invest (2006) 2.55
Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage. Hum Mol Genet (2007) 2.54
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi. Nat Cell Biol (2002) 2.50
Disclosing genetic test results to family members. J Nurs Scholarsh (2005) 2.45
Capacity to provide informed consent for participation in schizophrenia and HIV research. Am J Psychiatry (2002) 2.41
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. Lancet (2002) 2.39
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genet (2005) 2.38
Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation. Arterioscler Thromb Vasc Biol (2005) 2.36
Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice. Neuron (2010) 2.36
Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia. J Lipid Res (2002) 2.28
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet (2002) 2.21
Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu Rev Nutr (2006) 2.20
Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function. Nat Neurosci (2006) 2.19
Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease. Brain (2007) 2.17
IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J Cell Biol (2009) 2.16
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease. Proc Natl Acad Sci U S A (2005) 2.15
Neurocognitive signs in prodromal Huntington disease. Neuropsychology (2011) 2.14
Increased ABCA1 activity protects against atherosclerosis. J Clin Invest (2002) 2.13
Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol (2008) 2.10
Indexing disease progression at study entry with individuals at-risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2011) 2.05
Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J Neurosci (2002) 2.05
ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation. Lab Invest (2002) 2.03
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ (2009) 2.02
Macrophage ATP-binding cassette transporter A1 overexpression inhibits atherosclerotic lesion progression in low-density lipoprotein receptor knockout mice. Arterioscler Thromb Vasc Biol (2006) 2.00
Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet. Circ Res (2007) 1.94
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc Natl Acad Sci U S A (2005) 1.87
When good drugs go bad. Nature (2007) 1.85
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
Coercion and informed consent in research involving prisoners. Compr Psychiatry (2003) 1.84
Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease. J Neurosci (2005) 1.82
Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain. J Biol Chem (2004) 1.82
Inhibition of calpain cleavage of huntingtin reduces toxicity: accumulation of calpain/caspase fragments in the nucleus. J Biol Chem (2004) 1.82
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. Mol Ther (2011) 1.82
HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum Mol Genet (2002) 1.79
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
Practice effects in the prediction of long-term cognitive outcome in three patient samples: a novel prognostic index. Arch Clin Neuropsychol (2006) 1.77
"Frontal" behaviors before the diagnosis of Huntington's disease and their relationship to markers of disease progression: evidence of early lack of awareness. J Neuropsychiatry Clin Neurosci (2010) 1.76
The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease. J Biol Chem (2005) 1.74
Medicine. Whole-genome sequencing: the new standard of care? Science (2012) 1.73
Motor abnormalities in premanifest persons with Huntington's disease: the PREDICT-HD study. Mov Disord (2009) 1.73
Informed consent and genomic incidental findings: IRB chair perspectives. J Empir Res Hum Res Ethics (2011) 1.72
Deranged neuronal calcium signaling and Huntington disease. Biochem Biophys Res Commun (2004) 1.72
Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease. Hum Mol Genet (2008) 1.70
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet (2004) 1.70
An item response analysis of the motor and behavioral subscales of the unified Huntington's disease rating scale in huntington disease gene expansion carriers. Mov Disord (2011) 1.68
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. J Lipid Res (2009) 1.67
Challenges assessing clinical endpoints in early Huntington disease. Mov Disord (2010) 1.66
Short-term practice effects in amnestic mild cognitive impairment: implications for diagnosis and treatment. Int Psychogeriatr (2008) 1.64
More codeine fatalities after tonsillectomy in North American children. Pediatrics (2012) 1.63
Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. J Clin Oncol (2011) 1.62
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans. Hum Mol Genet (2010) 1.60
Tetrabenazine. Nat Rev Drug Discov (2009) 1.60
Measures of growth in children at risk for Huntington disease. Neurology (2012) 1.59
A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol (2004) 1.58
Phosphorylation of huntingtin at Ser421 in YAC128 neurons is associated with protection of YAC128 neurons from NMDA-mediated excitotoxicity and is modulated by PP1 and PP2A. J Neurosci (2010) 1.58
Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity. FASEB J (2009) 1.55
Verbal episodic memory declines prior to diagnosis in Huntington's disease. Neuropsychologia (2007) 1.54
Nurses transforming health care using genetics and genomics. Nurs Outlook (2010) 1.54
Automated deformation analysis in the YAC128 Huntington disease mouse model. Neuroimage (2007) 1.54
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol (2003) 1.53
Longitudinal change in regional brain volumes in prodromal Huntington disease. J Neurol Neurosurg Psychiatry (2010) 1.53
Fully automated analysis using BRAINS: AutoWorkup. Neuroimage (2010) 1.52
Predictors of diagnosis in Huntington disease. Neurology (2007) 1.48
Choosing an animal model for the study of Huntington's disease. Nat Rev Neurosci (2013) 1.47
Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells. J Biol Chem (2009) 1.47
Patients with Huntington's disease have impaired awareness of cognitive, emotional, and functional abilities. J Clin Exp Neuropsychol (2007) 1.47
Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain. J Biol Chem (2004) 1.47
The relationship of neuropsychological abilities to specific domains of functional capacity in older schizophrenia patients. Biol Psychiatry (2003) 1.46
Earliest functional declines in Huntington disease. Psychiatry Res (2010) 1.45
BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice. J Neurosci (2010) 1.44