| Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Personalizing medicine with clinical pharmacogenetics |
|
|
|
|
|
|
|
|
|
| Highlights of This Issue |
|
|
|
|
|
|
|
|
|
| Regarding cancer predisposition detected by CHG arrays |
|
|
|
|
|
|
|
|
|
| Response to the letter by Collins and Schimke |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: Summary of a public health/clinical collaborative meeting |
|
|
|
|
|
|
|
|
|
| DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study |
|
|
|
|
|
|
|
|
|
| Cardiovascular findings in duplication 17p11.2 syndrome |
|
|
|
|
|
|
|
|
|
| Testing for variants in CYP2C19: Population frequencies and testing experience in a clinical laboratory |
|
|
|
|
|
|
|
|
|
| Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance |
|
|
|
|
|
|
|
|
|
| The family history: The first genetic test, and still useful after all those years? |
|
|
|
|
|
|
|
|
|
| Revisiting the Wilson-Jungner criteria: How can supplemental criteria guide public health in the era of genetic screening? |
|
|
|
|
|
|
|
|
|
| Decision to abort after a prenatal diagnosis of sex chromosome abnormality: A systematic review of the literature |
|
|
|
|
|
|
|
|
|
| Competencies for the physician medical geneticist in the 21st century |
|
|
|
|
|
|
|
|
|
| Highlights of This Issue |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations |
|
|
|
|
|
|
|
|
|
| Folic acid and neural tube defects |
|
|
|
|
|
|
|
|
|
| Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations |
|
|
|
|
|
|
|
|
|
| Highlights of this Issue |
|
|
|
|
|
|
|
|
|
| Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T) |
|
|
|
|
|
|
|
|
|
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities |
|
|
|
|
|
|
|
|
|
| Enhancing exposure to genetics and genomics through an innovative medical school curriculum |
|
|
|
|
|
|
|
|
|
| The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases |
|
|
|
|
|
|
|
|
|
| A large health system's approach to utilization of the genetic counselor CPT® 96040 code |
|
|
|
|
|
|
|
|
|
| Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling |
|
|
|
|
|
|
|
|
|
| High-risk consumersʼ perceptions of preimplantation genetic diagnosis for hereditary cancers: A systematic review and meta-analysis |
|
|
|
|
|
|
|
|
|
| Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes? Results from a targeted evidence-based review |
|
|
|
|
|
|
|
|
|
| Consent to DNA collection in epidemiological studies: Findings from the Whitehall II cohort and the English Longitudinal Study of Ageing |
|
|
|
|
|
|
|
|
|
| Caregiver opinions about fragile X population screening |
|
|
|
|
|
|
|
|
|
| How disease advocacy organizations participate in clinical research: A survey of genetic organizations |
|
|
|
|
|
|
|
|
|
| Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey |
|
|
|
|
|
|
|
|
|
| Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening |
|
|
|
|
|
|
|
|
|
| von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors |
|
|
|
|
|
|
|
|
|
| Prader-Willi syndrome |
|
|
|
|
|
|
|
|
|
| A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy |
|
|
|
|
|
|
|
|
|
| Personal privacy, public benefits, and biobanks: A conjoint analysis of policy priorities and public perceptions |
|
|
|
|
|
|
|
|
|
| Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: A 3-year follow-up study |
|
|
|
|
|
|
|
|
|
| A counselee-oriented perspective on risk communication in genetic counseling: Explaining the inaccuracy of the counselees' risk perception shortly after BRCA1/2 test result disclosure |
|
|
|
|
|
|
|
|
|
| Informed consent and immunohistochemistry screening for Lynch syndrome |
|
|
|
|
|
|
|
|
|
| Feasibility of a pancreatic cancer surveillance program from a psychological point of view |
|
|
|
|
|
|
|
|
|
| Reply |
|
|
|
|
|
|
|
|
|
| Erratum: MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation: Erratum |
|
|
|
|
|
|
|
|
|
| Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| The virtual diagnostic laboratory: A new way of teaching undergraduate medical students about genetic testing |
|
|
|
|
|
|
|
|
|
| Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation |
|
|
|
|
|
|
|
|
|
| Addressing gaps in physician education using personal genomic testing |
|
|
|
|
|
|
|
|
|
| Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Erratum: Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors: Erratum |
|
|
|
|
|
|
|
|
|
| The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data |
|
|
|
|
|
|
|
|
|
| Clinical utility of family history for cancer screening and referral in primary care: A report from the Family Healthware Impact Trial |
|
|
|
|
|
|
|
|
|
| Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling? |
|
|
|
|
|
|
|
|
|
| Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome |
|
|
|
|
|
|
|
|
|
| Is there a need for PGxceptionalism? |
|
|
|
|
|
|
|
|
|
| Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems |
|
|
|
|
|
|
|
|
|
| A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families |
|
|
|
|
|
|
✓ |
|
Portuguese |
| To share or not to share: A randomized trial of consent for data sharing in genome research |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| The California Prenatal Screening Program: “Options and choices” not “coercion and eugenics” |
|
|
|
|
|
|
|
|
|
| Chromosomal microarray testing influences medical management |
|
|
|
|
|
|
|
|
|
| ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and |
|
|
|
|
|
|
|
|
|
| American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of |
|
|
|
|
|
|
|
|
|
| Optimizing Bob Guthrie's legacy—Storage and use of residual newborn screening specimens |
|
|
|
|
|
|
|
|
|
| American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants |
|
|
|
|
|
|
|
|
|
| Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results |
|
|
|
|
|
|
|
|
|
| Technical standards and guidelines for spinal muscular atrophy testing |
|
|
|
|
|
|
|
|
|
| Storage and use of residual newborn screening blood spots: A public policy emergency |
|
|
|
|
|
|
|
|
|
| Emergency preparedness for genetics centers, laboratories, and patients: The Southeast Region Genetics Collaborative strategic plan |
|
|
|
|
|
|
|
|
|
| Family-provider interactions surrounding the diagnosis of Down syndrome |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans |
|
|
|
|
|
|
|
|
|
| Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions |
|
|
|
|
|
|
|
|
|
| Personalized cancer genetics training for personalized medicine: Improving community-based healthcare through a genetically literate workforce |
|
|
|
|
|
|
|
|
|
| College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis |
|
|
|
|
|
|
|
|
|
| Economic evaluation of targeted cancer interventions: Critical review and recommendations |
|
|
|
|
|
|
|
|
|
| Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia |
|
|
|
|
|
|
|
|
|
| Long-term follow-up of children with confirmed newborn screening disorders using record linkage |
|
|
|
|
|
|
|
|
|
| The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease |
|
|
|
|
|
|
|
|
|
| COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy |
|
|
|
|
|
|
|
|
|
| Physicians' communication of Down syndrome screening test results: The influence of physician numeracy |
|
|
|
|
|
|
|
|
|
| Predictors and risk model development for menopausal age in fragile X premutation carriers |
|
|
|
|
|
|
|
|
|
| Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening |
|
|
|
|
|
|
|
|
|
| Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors |
|
|
|
|
|
|
|
|
|
| Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Multiple endocrine neoplasia type 2: An overview |
|
|
|
|
|
|
|
|
|
| Down syndrome: Coercion and eugenics |
|
|
|
|
|
|
|
|
|
| Phenylalanine hydroxylase deficiency |
|
|
|
|
|
|
|
|
|
| Gastric cancer in individuals with Li-Fraumeni syndrome |
|
|
|
|
|
|
|
|
|
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report |
|
|
|
|
|
|
|
|
|
| Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk |
|
|
|
|
|
|
|
|
|
| Educational needs about cancer family history and genetic counseling for cancer risk among frontline healthcare clinicians in New York City |
|
|
|
|
|
|
|
|
|
| Active choice but not too active: Public perspectives on biobank consent models |
|
|
|
|
|
|
|
|
|
| Policy statement on folic acid and neural tube defects |
|
|
|
|
|
|
|
|
|
| Clinical trials for pharmacogenomics testing for warfarin dosing: Relevance to general community practices |
|
|
|
|
|
|
|
|
|
| The psychosocial impact of Klinefelter syndrome and factors influencing quality of life |
|
|
|
|
|
|
|
|
|
| Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety |
|
|
|
|
|
|
|
|
|
| Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis |
|
|
|
|
|
|
|
|
|
| Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties |
|
|
|
|
|
|
|
|
|
| Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy |
|
|
|
|
|
|
|
|
|
| A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish population |
| Strengthening the reporting of Genetic Risk Prediction Studies: The GRIPS statement |
|
|
|
|
|
|
|
|
|
| Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals |
|
|
|
|
|
|
|
|
|
| “That's a good question”: University researchers' views on ownership and retention of human genetic specimens |
|
|
|
|
|
|
|
|
|
| Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia |
|
|
|
|
|
|
|
|
|
| Empirical development of improved diagnostic criteria for neurofibromatosis 2 |
|
|
|
|
|
|
|
|
|
| Highlights of This Issue |
|
|
|
|
|
|
|
|
|
| In Memoriam: Charles J. Epstein, MD |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses |
|
|
|
|
|
|
|
|
|
| A randomized controlled trial of genotype-based Coumadin initiation |
|
|
|
|
|
|
|
|
|
| Compliance with periodic surveillance for Von-Hippel-Lindau disease |
|
|
|
|
|
|
|
|
|
| Natural history of Danon disease |
|
|
|
|
|
|
|
|
|
| Beyond the first trimester screen: Can we predict who will choose invasive testing? |
|
|
|
|
|
|
|
|
|
| Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome |
|
|
|
|
|
|
|
|
|
| Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in sit |
|
|
|
|
|
|
|
|
|
| Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: The changing moral focus of newborn screening |
|
|
|
|
|
|
|
|
|
| Autism spectrum disorders—A genetics review |
|
|
|
|
|
|
|
|
|
| Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk |
|
|
|
|
|
|
|
|
|
| Family communication matters: The impact of telling relatives about unclassified variants and uninformative DNA-test results |
|
|
|
|
|
|
|
|
|
| Familial Mediterranean fever—A review |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Highlights of This Issue |
|
|
|
|
|
|
|
|
|
| Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings |
|
|
|
|
|
|
✓ |
|
Finnish |
| Looking ahead, looking behind |
|
|
|
|
|
|
|
|
|
| Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project |
|
|
|
|
|
|
|
|
|
| Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics |
|
|
|
|
|
|
|
|
|
| Unifying cancer genetics |
|
|
|
|
|
|
|
|
|
| Public health genomics: The end of the beginning |
|
|
|
|
|
|
|
|
|
| Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic |
|
|
|
|
|
|
|
|
|
| The advent of personal genome sequencing |
|
|
|
|
|
|
|
|
|
| Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small |
|
|
|
|
|
|
|
|
|
| The American College of Medical Genetics, the first 20 years |
|
|
|
|
|
|
|
|
|
| Quality improvement of newborn screening in real time |
|
|
|
|
|
|
|
|
|
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females |
|
|
|
|
|
|
|
|
|
| Risk and uncertainty: Shifting decision making for aneuploidy screening to the first trimester of pregnancy |
|
|
|
|
|
|
|
|
|
| News Briefs |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Response to Plon et al.—Genetic testing and cancer risk management recommendations by physicians for at-risk relatives |
|
|
|
|
|
|
|
|
|
| Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis |
|
|
|
|
|
|
|
|
|
| How does a simple enquiry compare to a detailed family history questionnaire to identify coronary heart disease or diabetic familial risk? |
|
|
|
|
|
|
|
|
|
| von Willebrand disease |
|
|
|
|
|
|
|
|
|
| A grand challenge: Providing benefits of clinical genetics to those in need |
|
|
|
|
|
|
|
|
|
| Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma |
|
|
|
|
|
|
|
|
|
| Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis |
|
|
|
|
|
|
|
|
|
| Genetics and genomics education: The next generation |
|
|
|
|
|
|
|
|
|
| Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing |
|
|
|
|
|
|
|
|
|
| Patient reactions to personalized medicine vignettes: An experimental design |
|
|
|
|
|
|
|
|
|
| Medical and graduate students' attitudes toward personal genomics |
|
|
|
|
|
|
|
|
|
| Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism |
|
|
|
|
|
|
|
|
|
| How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling |
|
|
|
|
|
|
|
|
|
| Changes to perceptions of the pros and cons of genetic susceptibility testing after APOE genotyping for Alzheimer disease risk |
|
|
|
|
|
|
|
|
|
| Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance |
|
|
|
|
|
|
|
|
|
| Integrated analysis of unclassified variants in mismatch repair genes |
|
|
|
|
|
|
|
|
|
| Direct-to-consumer genetic testing: An assessment of genetic counselors' knowledge and beliefs |
|
|
|
|
|
|
|
|
|
| Genetic risk estimation in the Coriell Personalized Medicine Collaborative |
|
|
|
|
|
|
|
|
|
| Large-scale population screening for spinal muscular atrophy: Clinical implications |
|
|
|
|
|
|
|
|
|
| Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies |
|
|
|
|
|
|
|
|
|
| Genetic testing and cancer risk management recommendations by physicians for at-risk relatives |
|
|
|
|
|
|
|
|
|
| Novel MLH1 duplication identified in Colombian families with Lynch syndrome |
|
|
|
|
|
|
|
|
|
| Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey |
|
|
|
|
|
|
|
|
|
| Horizon scanning for new genomic tests |
|
|
|
|
|
|
|
|
|
| Alpha-thalassemia |
|
|
|
|
|
|
|
|
|
| A review of economic evaluations of genetic testing services and interventions (2004–2009) |
|
|
|
|
|
|
|
|
|
| Reviewer Acknowledgment |
|
|
|
|
|
|
|
|
|
| College News |
|
|
|
|
|
|
|
|
|
| Highlights of This Issue |
|
|
|
|
|
|
|
|
|
| Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type |
|
|
|
|
|
|
|
|
|
| Reply to the letter to the editor by Marc Williams |
|
|
|
|
|
|
|
|
|
| Who should be tested for thrombophilia? |
|
|
|
|
|
|
|
|
|
| Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease |
|
|
|
|
|
|
|
|
|
| A timely arrival for genomic medicine |
|
|
|
|
|
|
|
|
|
| The impact of human gene patents on genetic testing in the United Kingdom |
|
|
|
|
|
|
|
|
|
| Components of family history associated with women's disease perceptions for cancer: A report from the Family Healthware™ Impact Trial |
|
|
|
|
|
|
|
|
|
| Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome |
|
|
|
|
|
|
|
|
|
| Teaching with single nucleotide polymorphisms: Learning the right lessons |
|
|
|
|
|
|
|
|
|
| FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, a |
|
|
|
|
|
|
|
|
|
| Factor V Leiden thrombophilia |
|
|
|
|
|
|
|
|
|
| A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis |
|
|
|
|
|
|
|
|
|
| Unleashing the power of human genetic variation knowledge: New Zealand stakeholder perspectives |
|
|
|
|
|
|
|
|
|
| Lessons learned from the introduction of personalized genotyping into a medical school curriculum |
|
|
|
|
|
|
|
|
|
| Primary care physicians' experience with family history: An exploratory qualitative study |
|
|
|
|
|
|
|
|
|
| Tracing the use and source of racial terminology in representations of genetic research |
|
|
|
|
|
|
|
|
|
| Research use of leftover newborn bloodspots: Attitudes of Canadian geneticists regarding storage and informed consent requirements |
|
|
|
|
|
|
|
|
|
| Regulating direct-to-consumer genetic tests: What is all the fuss about? |
|
|
|
|
|
|
|
|
|
| Impact of communicating personalized genetic risk information on perceived control over the risk: A systematic review |
|
|
|
|
|
|
|
|
|