| Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research |
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| Long-term follow-up of newborn screening patients |
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| Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: Early experience in New England |
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| Diagnostic guidelines for newborns who screen positive in newborn screening |
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| College News |
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| Highlights of This Issue |
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| The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup |
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| The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings |
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| Newborn screening conditions: What we know, what we do not know, and how we will know it |
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| Long-term follow-up in newborn screening: A systems approach for improving health outcomes |
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| Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements |
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| Newborn screening residual dried blood spot use for newborn screening quality improvement |
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| Autozygome decoded |
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| Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine? |
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| Comment on the impact of gene patents and licensing practices on access to genetic testing: Lessons from hereditary hemorrhagic telangiectasia |
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| Highlights of This Issue |
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| Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446–463 and 464–470 |
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| College News |
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| Parental preferences for CDKN2A/p16 testing of minors |
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| Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey |
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| Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies—A targeted evidence-based review |
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| Therapeutic goals in the treatment of Fabry disease |
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| Agalsidase treatment for Fabry disease: Uses and rivalries |
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| Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence |
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| The genetics and clinical manifestations of telomere biology disorders |
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| Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities |
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| Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature |
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| Highlights of This Issue |
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| College News |
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| Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey |
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| Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics |
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| Generation after generation: Exploring the psychological impact of providing genetic services through a cascading approach |
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| Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 |
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| Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry |
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| Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals |
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| SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome |
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| Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type |
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| Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity |
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| Complete COL1A1 allele deletions in osteogenesis imperfecta |
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| Paraoxonase 1 polymorphisms and ischemic stroke risk: A systematic review and meta-analysis |
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| Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome |
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| Erratum: Glycogen storage disease type III diagnosis and management guidelines: Erratum |
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| Highlights of This Issue |
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| Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders |
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| Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity |
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| A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice |
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| A novel approach to increase awareness about hereditary colon cancer using a state cancer registry |
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| Carrier testing for spinal muscular atrophy |
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| Genetic screening in the Persian Jewish community: A pilot study |
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| Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records |
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| Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium |
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| Consumer perceptions of direct-to-consumer personalized genomic risk assessments |
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| Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants |
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| Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care |
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| A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation |
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| Erratum: Commentary on population screening for fragile X syndrome: Erratum |
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| The Human Genome Project at 10 years: A teachable moment |
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| Archibald Edward Garrod and alcaptonuria: “Inborn errors of metabolism” revisited |
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| College News |
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| Simplifying informed consent for biorepositories: Stakeholder perspectives |
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| Size of the direct-to-consumer genomic testing market |
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| Response to Dr. Palombi |
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| Comment on “Myriad Genetics: In the eye of the policy storm” |
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| College News |
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| Glycogen Storage Disease Type III diagnosis and management guidelines |
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| Erratum: Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier |
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| Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children |
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| African Americans' responses to genetic explanations of lung cancer disparities and their willingness to participate in clinical genetics research |
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| Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis |
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| A novel microdeletion/microduplication syndrome of 19p13.13 |
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| Weighing the evidence for newborn screening for early-infantile Krabbe disease |
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| Assessing the social impact of direct-to-consumer genetic testing: Understanding sociotechnical architectures |
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| A systematic review of population screening for fragile X syndrome |
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| Technical standards and guidelines for the diagnosis of biotinidase deficiency |
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| A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents |
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| Genomic research and wide data sharing: Views of prospective participants |
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| Commentary on population screening for fragile X syndrome |
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| Health insurance coverage of genetic services in Illinois |
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| Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome |
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| Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time |
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| A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies |
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| Validation of My Family Health Portrait for six common heritable conditions |
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| CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies |
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| Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis |
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| In Memoriam: Remembrance of Barton Childs, 1916–2010 |
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| College News |
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| Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities |
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| Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature |
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| Medical foods: Inborn errors of metabolism and the reimbursement dilemma |
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| Clinical and genetic aspects of Angelman syndrome |
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| The skeletal dysplasias |
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| Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III |
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| The rules remain the same for genomic medicine: The case against “reverse genetic exceptionalism” |
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| New at GeneTests |
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| Further development and evaluation of a breast/ovarian cancer genetics referral screening tool |
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| Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease |
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| Putting patients before patents |
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| Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease |
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| Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing |
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| Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome |
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| Gene patents and licensing: Case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society |
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| Myriad Genetics: In the eye of the policy storm |
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| Putting patients before patents |
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| Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis |
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| Impact of gene patents and licensing practices on access to genetic testing for hearing loss |
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| Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers |
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| College News |
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| Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: Comparing breast and ovarian cancers with colon cancers |
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| Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis |
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| Genetics and cardiac channelopathies |
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| What keeps you up at night? Genetics professionals' distressing experiences in patient care |
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| The genetics of prion diseases |
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| The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease |
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| The electrodiagnostic characteristics of Glycogen Storage Disease Type III |
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| Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome |
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| Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions |
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| Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 |
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| “I know what you told me, but this is what I think:” Perceived risk of Alzheimer disease among individuals who accurately recall their genetics-based risk estimate |
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| A novel custom resequencing array for dilated cardiomyopathy |
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| Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy |
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| Outcomes of interest in evidence-based evaluations of genetic tests |
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| Homozygosity mapping: One more tool in the clinical geneticist's toolbox |
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| Family history and perceptions about risk and prevention for chronic diseases in primary care: A report from the Family Healthware™ Impact Trial |
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| Multigenic condition risk assessment in direct-to-consumer genomic services |
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| Connexin-26–associated deafness: Phenotypic variability and progression of hearing loss |
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| Perspectives and diagnostic considerations in spinal muscular atrophy |
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| Newborn screening programs: Should 22q11 deletion syndrome be added? |
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| Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newb |
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| Newborn screening—the unique role of unique evidence |
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| An evidence development process for newborn screening |
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| Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children |
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| “Creation,” a Film by Jon Amiel |
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| Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies |
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| Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: A change of concept required |
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| The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer |
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| But is the platter really silver? |
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| Impact of limited population diversity of genome-wide association studies |
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| A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: Recommendations of the United States Secretary for Health and Human Services Adviso |
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| Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization |
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| The role of race and trust in tissue/blood donation for genetic research |
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| Beta-thalassemia |
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| Announcement |
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| New at GeneTests |
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| College News |
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| Clinical and genetic aspects of neurofibromatosis 1 |
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| New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease |
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| A validated disease severity scoring system for adults with type 1 Gaucher disease |
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| Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects |
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| Hereditary breast and ovarian cancer: Referral source for genetic assessment and communication regarding assessment with nongenetic clinicians in the community setting |
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| Laboratory guideline for Turner syndrome |
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| High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability |
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| Review of studies on metabolic genes and cancer in populations of African descent |
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| Reviewer Acknowledgment |
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| Disease risks derived from genetic variants need clinical context |
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| Reply to “Disease risks derived from genetic variants need clinical context” |
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