| College News |
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| College News |
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| College News |
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| College News |
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| College News |
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| Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project |
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| How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay |
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| Mitochondrial DNA haplogroup R predicts survival advantage in severe sepsis in the Han population |
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Han population |
| Incorporating ethnicity into genetic risk assessment for Alzheimer disease: the REVEAL study experience |
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| Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12–14, 2006 |
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| Infant hearing loss and connexin testing in a diverse population |
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| The genetic variation of the tenomodulin gene (TNMD) is associated with serum levels of systemic immune mediators—the Finnish Diabetes Prevention Study |
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| Genetic exceptionalism. Too much of a good thing? |
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| College News |
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| Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening |
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| Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy |
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| Association study between interleukin 1β gene and epileptic disorders: a HuGe review and meta-analysis |
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| The incidence of duplicate genetic testing |
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| IL-1β (+3954C/T) polymorphism could protect human immunodeficiency virus (HIV)-infected patients on highly active antiretroviral treatment (HAART) against lipodystrophic syndrome |
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| Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers |
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| Great expectations: views of genetic research participants regarding current and future genetic studies |
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| A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact |
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| Acylcarnitine profile analysis |
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| Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin |
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| Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management |
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| Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective |
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| Parathyroid hormone reserve in 22q11.2 deletion syndrome |
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| Initial report from the Hunter Outcome Survey |
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| Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider |
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| A Rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding |
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| Genetics in clinical practice: general practitioners' educational priorities in European countries |
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| Genetics of common disease: a primary care priority aligned with a teachable moment? |
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| Erratum |
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| The feasibility of online genetic testing for lung cancer susceptibility: uptake of a web-based protocol and decision outcomes |
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| Increased genetic counseling support improves communication of genetic information in families |
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| A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study |
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| Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale |
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| Legal update: living with the Genetic Information Nondiscrimination Act |
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| Relation of familial patterns of coronary heart disease, stroke, and diabetes to subclinical atherosclerosis: the multi-ethnic study of atherosclerosis |
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| The role of the F508C mutation in congenital bilateral absence of the vas deferens |
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| Clinical genetics provider real-time workflow study |
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| Patient interest in recording family histories of cancer via the Internet |
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| Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders |
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| Clinical genetics provider real-time workflow study |
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| Population screening in a Druze community: the challenge and the reward |
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| The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk |
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| Abacavir hypersensitivity: a model system for pharmacogenetic test adoption |
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| College News |
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| Changing interpretations, stable genes: responsibilities of patients, professionals, and policy makers in the clinical interpretation of complex genetic information |
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| The on-line promotion and sale of nutrigenomic services |
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| Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands |
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| Carrier screening for spinal muscular atrophy |
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| Ancient genetics—Was Gilgamesh a mosaic? |
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| Subjects matter: a survey of public opinions about a large genetic cohort study |
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| Perinatal transfer of genetic information: developing an algorithm for reporting cystic fibrosis prenatal test results to the newborn screening program |
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| A pilot assessment of parental practices and attitudes regarding risk disclosure and clinical research involving children in Huntington disease families |
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| Routine genetic testing for Asperger syndrome |
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| Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines |
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| Is cancer a disease of abnormal cellular metabolism? New angles on an old idea |
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| College News |
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| Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus |
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| Response to letter by Chodirker and Chudley |
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| Erratum |
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| Factors influencing the referrals in primary care of asymptomatic patients with a family history of cancer |
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| Putting it all behind: long-term psychological impact of an inconclusive DNA test result for breast cancer |
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| Recreational genomics; what's in it for you? |
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| Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study |
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| Reciprocal translocations: tracing their meiotic behavior |
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| The use of role-play to enhance medical student understanding of genetic counseling |
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| Policy considerations in designing a fragile X population screening program |
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| College News |
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| Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease |
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| Twenty questions in genetic medicine—an assessment of World Wide Web databases for genetics information at the point of care |
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| Clinical genetics provider real-time workflow study |
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| Putting the Genetic Information Nondiscrimination Act in context |
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| Contemplating effects of genomic structural variation |
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| Preimplantation genetic screening: a survey of in vitro fertilization clinics |
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| Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts |
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| Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease |
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| Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis |
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| Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians |
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| The genetics clinic: where does the time go? |
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| College News |
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| The missing element: consanguinity as a component of genetic risk assessment |
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| Genotype-phenotype associations between chymase and angiotensin—converting enzyme gene polymorphisms in chronic systolic heart failure patients |
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| Angiotensin II type 1 receptor polymorphisms and susceptibility to hypertension: A HuGE review |
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| Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p |
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| News at GeneTests |
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| Creating genetics-based infusion centers: a case study of two models |
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| College News |
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| The impact of family history of breast cancer and cancer death on women's mammography practices and beliefs |
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| SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss |
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| Cytogenetics and the evolution of medical genetics |
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| Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray |
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| The continued need to synthesize the results of genetic associations across multiple studies |
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| College News |
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| Erratum |
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| Ashkenazi Jewish genetic disease carrier screening |
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| Statement on guidance for genetic counseling in advanced paternal age |
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| Is gene discovery research or diagnosis? |
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| Ashkenazi Jewish genetic disease carrier screening |
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| Psychiatrists' attitudes, knowledge, and experience regarding genetics: a preliminary study |
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| Differential use of available genetic tests among primary care physicians in the United States: results of a national survey |
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| Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review |
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| Depiction of gene-environment relationships in online medical recommendations |
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| The beliefs, and reported and intended behaviors of unaffected men in response to their family history of prostate cancer |
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| Pharmacogenetic testing: not as simple as it seems |
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| Long-term follow-up culture in state newborn screening programs |
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| Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent |
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Ashkenazi Jewish |
| Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent |
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| Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray |
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| Issues in genetic testing for ultra-rare diseases: background and introduction |
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| Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations |
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| A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program |
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| Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory |
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| Developing a national collaborative study system for rare genetic diseases |
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| Erratum |
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| Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme |
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| Molecular testing: improving patient care through partnering with laboratory genetic counselors |
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| New quality assurance standards for rare disease testing |
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| Gene patenting and licensing: the role of academic researchers and advocacy groups |
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| Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension |
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| Standards of professional practice for genetic metabolic dietitians |
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| Educating the general public about multifactorial genetic disease: applying a theory-based framework to understand current public knowledge |
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| ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 |
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| Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes |
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| Clinical genetics evaluation in identifying the etiology of autism spectrum disorders |
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| Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses |
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| Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations |
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| Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newb |
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| Genetic aspects of Alzheimer disease |
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| The genetics of gestational diabetes mellitus: evidence for relationship with type 2 diabetes mellitus |
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| First trimester diagnosis and screening for fetal aneuploidy |
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| Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives |
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| Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population |
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| Maternal reports of family history from the National Birth Defects Prevention Study, 1997–2001 |
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| DNA data sharing: research participants' perspectives |
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| A systematic review of perceived risks, psychological and behavioral impacts of genetic testing |
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| Health care in the age of genetic medicine |
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| Genetics evaluation for the etiologic diagnosis of autism spectrum disorders |
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| Carrier screening in individuals of Ashkenazi Jewish descent |
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Ashkenazi Jewish descent |
| The future is now: carrier screening for all populations |
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