| Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities |
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| Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era |
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| Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6 |
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| Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories |
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| Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: Lessons for health policy in genetic disease |
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| Lessons from arrhythmogenic right ventricular cardiomyopathy research |
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| Long-term speech and language developmental issues among children with Duarte galactosemia |
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| Realizing the potential of genomics: Translation is not translational research |
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| Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors |
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| “Am I my genes?”: Questions of identity among individuals confronting genetic disease |
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| Translation research is an essential but not sufficient ingredient for translation of genomic medicine into population health benefits |
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| Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project |
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| Erratum |
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| College News |
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| Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations |
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| A comparison of male attendees and nonattendees at a familial cancer clinic |
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| Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer |
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| FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing |
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| The Origin |
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| A gene dosage map of Chromosome 18: A map with clinical utility |
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| Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population |
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| Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry |
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| Screening for fetal aneuploidy and neural tube defects |
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| PTEN hamartoma tumor syndrome: An overview |
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| Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic |
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| Impact of false-positive newborn metabolic screening results on early health care utilization |
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| Reply to “Practice guidelines for short stature” |
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| Erratum: ACMG practice guideline: Genetic evaluation of short stature: Erratum |
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| Use of complementary and alternative medicine by patients with lysosomal storage diseases |
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| Endothelial nitric oxide synthase gene polymorphisms and diabetic nephropathy: A HuGE review and meta-analysis |
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| The ethical use of existing samples for genome research |
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| Breast cancer risk communication: Assessment of primary care physicians by standardized patients |
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| Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: A pilot study |
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| Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer |
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| To the Editor |
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| Use of Factor V Leiden genetic testing in practice and impact on management |
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| Comparative effectiveness research and genomic medicine: An evolving partnership for 21st century medicine |
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| Barriers to the use of genetic testing: A study of racial and ethnic disparities |
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| Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls |
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| Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] |
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| Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities |
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| Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer |
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| Patient education and informed consent for preimplantation genetic diagnosis: Health literacy for genetics and assisted reproductive technology |
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| Hands down: Reflecting on the 50th anniversary of the description of Trisomy 21 |
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| Reply to letter from Drs. Ledbetter, Saul, and Moeschler |
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| Down syndrome: The crucible for treating genomic imbalance |
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| Technical standards and guidelines: Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements |
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| Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue |
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✓ |
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Ashkenazi Jews |
| The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome |
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| Comments on the “genotype first diagnosis” controversy |
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| Population-based BRCA1/BRCA2 screening in Ashkenazi Jews: A call for evidence |
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✓ |
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Ashkenazi Jews |
| The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop |
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| Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008 |
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| Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions |
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| Erratum |
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| Personalized medicine and disruptive innovation: Implications for technology assessment |
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| Personal utility and genomic information: Look before you leap |
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| Direct to consumer genetic testing: Avoiding a culture war |
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| Evaluation of risk prediction updates from commercial genome-wide scans |
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| Erratum |
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| Evaluating the utility of personal genomic information |
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| Low adherence to national guidelines for thyroid screening in Down syndrome |
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| Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome |
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| Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker |
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| Technical standards and guidelines for myotonic dystrophy type 1 testing |
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| Are electronic health records ready for genomic medicine? |
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| Distress and burnout among genetic service providers |
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| The current state of cancer family history collection tools in primary care: a systematic review |
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| A commentary on the President's Council on Bioethics report: the changing moral focus of newborn screening |
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| Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes |
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| The Genomic Applications in Practice and Prevention Network |
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| Racial differences in the interaction between family history and risk factors associated with diabetes in the National Health and Nutritional Examination Survey, 1999–2004 |
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| Newborn dried bloodspot screening: mapping the clinical and public health components and activities |
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| The nonmotile ciliopathies |
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| A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease |
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| Newborn screening as a system from birth through lifelong care |
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| ACMG practice guideline: Genetic evaluation of short stature |
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| The emerging role of genetics professionals in forensic kinship DNA identification after a mass fatality: lessons learned from Hurricane Katrina volunteers |
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| Attendance of men at the familial cancer clinic: what they value from the consultation |
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| Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment |
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| Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition |
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| Emergency preparedness for newborn screening and genetic services |
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| CD14 C-260T gene polymorphism and ischemic heart disease susceptibility: A HuGE review and meta-analysis |
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| The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York |
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| Commentary on: “Newborn screening for Krabbe Disease: the New York state model” and “The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on |
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| Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment |
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| Developing a National Registry for conditions identifiable through newborn screening |
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| Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications |
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| Interest in genetic testing among affected men from hereditary prostate cancer families and their unaffected male relatives |
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| Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia |
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| Response to Saul and Moeschler “How best to use CGH arrays in the clinical setting” |
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| Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update |
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✓ |
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oriental Jewish |
| Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents |
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| Mitochondrial DNA deletion and sarcopenia |
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| AsktheGeneticistSM: five years of online experience |
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| Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health |
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| Retention of medical genetics knowledge and skills by medical students |
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| Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH |
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| Highlights in this Issue |
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| Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease |
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| The association between family history of asthma and the prevalence of asthma among US adults: National Health and Nutrition Examination Survey, 1999–2004 |
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| How best to use CGH arrays in the clinical setting |
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| An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses |
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| Validation of Fanconi anemia complementation Group A assignment using molecular analysis |
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| Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia |
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| Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing |
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| Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child |
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| Physicians' attitudes toward race, genetics, and clinical medicine |
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| Utilization of genetic counseling after diagnosis of a birth defect—trends over time and variables associated with utilization |
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| The interface of Medicare coverage decision-making and emerging molecular-based laboratory testing |
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| HFE-associated hereditary hemochromatosis |
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| The impact of patents on the development of genome-based clinical diagnostics: an analysis of case studies |
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| Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects |
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| Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome |
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| Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease |
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| Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families |
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| Veterans' attitudes regarding a database for genomic research |
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| Gene prioritization based on biological plausibility over genome wide association studies renders new loci associated with type 2 diabetes |
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| Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature |
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| Guidelines for the prenatal diagnosis of fetal skeletal dysplasias |
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| Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 |
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| The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly |
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| Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy |
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| Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser? |
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| College News |
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| New at GeneTests |
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| Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel |
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| Barriers to adopting genomics into public health education: a mixed methods study |
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| Multiple myeloma and Gaucher genes |
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| EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome |
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| Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review |
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| Reviewer Acknowledgment |
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| Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relative |
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| Challenges and opportunities for evidence-based genetics practice |
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| Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? |
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| The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group |
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| Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? |
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| Erratum |
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