Published in J Genet Couns on June 21, 2013
Genetic testing in the epilepsies-developments and dilemmas. Nat Rev Neurol (2014) 1.10
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Genetics educational needs in China: physicians' experience and knowledge of genetic testing. Genet Med (2014) 0.75
Antidepressant prescribing in the precision medicine era: a prescriber's primer on pharmacogenetic tools. BMC Psychiatry (2017) 0.75
The Need for Vigilance in the Marketing of Genomic Tests in Psychiatry. J Nerv Ment Dis (2015) 0.75
Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey. Epilepsy Curr (2016) 0.75
Provision of Genetic Services for Autism and its Impact on Spanish Families. J Autism Dev Disord (2017) 0.75
Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey. Eur J Hum Genet (2017) 0.75
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A preliminary comparison of the hopes of researchers, clinicians, and families for the future ethical use of genetic findings on schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2006) 2.09
Attitudes and practices among internists concerning genetic testing. J Genet Couns (2012) 1.75
Views of discrimination among individuals confronting genetic disease. J Genet Couns (2010) 1.34
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Genetic testing in psychiatry: a review of attitudes and beliefs. Psychiatry (2011) 1.09
Pharmacogenetic studies in depression: a proposal for methodologic guidelines. Pharmacogenomics J (2007) 1.07
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The genetics of bipolar affective disorder. Curr Opin Psychiatry (2007) 1.03
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Predictive and diagnostic genetic testing in psychiatry. Clin Lab Med (2010) 0.91
Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing for Huntington's disease in Germany. J Med Genet (1993) 0.86
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science (2008) 14.26
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
Ethical, legal, and social dimensions of epilepsy genetics. Epilepsia (2006) 5.95
Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines. Mov Disord (2012) 5.12
Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood (2006) 5.05
HIV-associated cognitive impairment before and after the advent of combination therapy. J Neurovirol (2002) 4.20
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A (2004) 3.73
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet (2002) 3.73
The characterization of twenty sequenced human genomes. PLoS Genet (2010) 3.72
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry (2010) 3.66
Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med (2007) 3.51
Delusions and hallucinations are associated with worse outcome in Alzheimer disease. Arch Neurol (2005) 3.10
A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol (2008) 2.95
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord (2005) 2.88
An actuarial model of violence risk assessment for persons with mental disorders. Psychiatr Serv (2005) 2.57
Rates and types of psychiatric disorders in perinatally human immunodeficiency virus-infected youth and seroreverters. J Child Psychol Psychiatry (2009) 2.57
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Models of consent to return of incidental findings in genomic research. Hastings Cent Rep (2014) 2.25
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol (2012) 2.20
Incidence and predictors of seizures in patients with Alzheimer's disease. Epilepsia (2006) 2.17
Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia (2014) 2.15
Use of a rapid HIV home test to screen sexual partners: an evaluation of its possible use and relative risk. AIDS Behav (2009) 2.12
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) 2.11
Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol (2009) 2.06
Voluntariness of consent to research: a conceptual model. Hastings Cent Rep (2009) 2.05
Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med (2012) 1.99
An evaluation of neurocognitive status and markers of immune activation as predictors of time to death in advanced HIV infection. Arch Neurol (2007) 1.94
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol (2008) 1.81
Outcomes of congenital diaphragmatic hernia in the modern era of management. J Pediatr (2013) 1.80
Attenuated central nervous system infection in advanced HIV/AIDS with combination antiretroviral therapy. Arch Neurol (2004) 1.79
The OHRP and SUPPORT. N Engl J Med (2013) 1.78
Attitudes and practices among internists concerning genetic testing. J Genet Couns (2012) 1.75
Disparities in the recording of Parkinson's disease on death certificates. Mov Disord (2005) 1.75
Using EHRs to integrate research with patient care: promises and challenges. J Am Med Inform Assoc (2012) 1.74
An observational study of cognitive impairment in amyotrophic lateral sclerosis. Arch Neurol (2006) 1.73
Polyamine pathway contributes to the pathogenesis of Parkinson disease. Proc Natl Acad Sci U S A (2010) 1.73
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet (2012) 1.72
Lack of familial aggregation of Parkinson disease and Alzheimer disease. Arch Neurol (2004) 1.67
Problems in comprehension of informed consent in rural and peri-urban Mali, West Africa. Clin Trials (2006) 1.65
Longitudinal study of mental health and psychosocial predictors of medical treatment adherence in mothers living with HIV disease. AIDS Patient Care STDS (2003) 1.62
Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA (2013) 1.60
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol (2010) 1.56
Diagnostic criteria for psychosis in Parkinson's disease: report of an NINDS, NIMH work group. Mov Disord (2007) 1.55
Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord (2004) 1.54
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet (2012) 1.52
Memory and executive function impairment predict dementia in Parkinson's disease. Mov Disord (2002) 1.52
Ebola virus disease cluster in the United States--Dallas County, Texas, 2014. MMWR Morb Mortal Wkly Rep (2014) 1.49
17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. Arch Neurol (2004) 1.47
A 10-item smell identification scale related to risk for Alzheimer's disease. Ann Neurol (2005) 1.42
Epidemiologic investigation of a 2007 outbreak of Serratia marcescens bloodstream infection in Texas caused by contamination of syringes prefilled with heparin and saline. Infect Control Hosp Epidemiol (2009) 1.41
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. Breast Cancer Res Treat (2008) 1.40
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol (2010) 1.38
Use of respondent driven sampling (RDS) generates a very diverse sample of men who have sex with men (MSM) in Buenos Aires, Argentina. PLoS One (2011) 1.37
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Med Genet (2011) 1.36
Familial aggregation of early- and late-onset Parkinson's disease. Ann Neurol (2003) 1.35
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res (2013) 1.35
A population-based study of mortality in essential tremor. Neurology (2007) 1.35
Seizures in Alzheimer disease: who, when, and how common? Arch Neurol (2009) 1.34
Undetectable cerebrospinal fluid HIV RNA and beta-2 microglobulin do not indicate inactive AIDS dementia complex in highly active antiretroviral therapy-treated patients. J Acquir Immune Defic Syndr (2005) 1.32
The epilepsy phenome/genome project. Clin Trials (2013) 1.32
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol (2011) 1.32
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet (2006) 1.30
Analysis of significance patterns identifies ubiquitous and disease-specific gene-expression signatures in patient peripheral blood leukocytes. Ann N Y Acad Sci (2005) 1.28
Disclosures of Huntington disease risk within families: patterns of decision-making and implications. Am J Med Genet A (2007) 1.28
Comparison of dementia with Lewy bodies to Alzheimer's disease and Parkinson's disease with dementia. Mov Disord (2004) 1.27
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS One (2007) 1.26
Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol (2006) 1.26
HIV and other sexually transmitted infections among men who have sex with men recruited by RDS in Buenos Aires, Argentina: high HIV and HPV infection. PLoS One (2012) 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
Recruiting egg donors online: an analysis of in vitro fertilization clinic and agency websites' adherence to American Society for Reproductive Medicine guidelines. Fertil Steril (2012) 1.22
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia (2002) 1.21
The subject advocate: protecting the interests of participants with fluctuating decisionmaking capacity. IRB (2003) 1.21
Prevalence and change in psychiatric disorders among perinatally HIV-infected and HIV-exposed youth. AIDS Care (2012) 1.21
Familial risk of epilepsy: a population-based study. Brain (2014) 1.19
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. Diabetes (2013) 1.19
A comparison of audio computer-assisted self-interviews to face-to-face interviews of sexual behavior among perinatally HIV-exposed youth. Arch Sex Behav (2011) 1.17
Combined effect of age and severity on the risk of dementia in Parkinson's disease. Ann Neurol (2002) 1.17
A multicenter study of two magnetic resonance spectroscopy techniques in individuals with HIV dementia. J Magn Reson Imaging (2005) 1.17
Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med (2005) 1.15
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet (2013) 1.15
Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. Parkinsonism Relat Disord (2012) 1.14
Longitudinal assessment of patient dependence in Alzheimer disease. Arch Neurol (2002) 1.14
Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs. Genetics (2011) 1.14
Interrater agreement in the assessment of motor manifestations of Huntington's disease. Mov Disord (2005) 1.13
Psychopathological features in Alzheimer's disease: course and relationship with cognitive status. J Am Geriatr Soc (2003) 1.12
"Tell Juliana": acceptability of the candidate microbicide VivaGel® and two placebo gels among ethnically diverse, sexually active young women participating in a phase 1 microbicide study. AIDS Behav (2012) 1.11
Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns (2007) 1.11
SCN1A testing for epilepsy: application in clinical practice. Epilepsia (2013) 1.10
The VUKA family program: piloting a family-based psychosocial intervention to promote health and mental health among HIV infected early adolescents in South Africa. AIDS Care (2013) 1.10