| Recommendations from the EGAPP Working Group: does the use of Oncotype DX tumor gene expression profiling to guide treatment decisions improve outcomes in patients with breast cancer? |
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| In this Issue |
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| News Briefs |
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| News Briefs |
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| In this Issue |
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| Response to Cederbaum |
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| Interpreting sequence variants in a clinical context |
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| Correction: Corrigendum: Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population |
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| In this Issue |
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| News Briefs |
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| Gene–environment interactions |
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| Response to Saul |
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| Molecular diagnostic testing |
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| In this Issue |
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| News Briefs |
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| Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease |
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| Response to Nogales-Gadea et al. |
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| In sickness and in health: context matters when considering potential benefits and risks of genome-wide sequencing |
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| Response to Strong |
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| Response to ten Broeke and Nielsen |
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| A PMS2-specific colorectal surveillance guideline |
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| In this Issue |
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| Correction: Corrigendum: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients |
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| News Briefs |
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| Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder |
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| Retracted: Validation of a multiplex genotyping platform using a novel genomic database approach |
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| Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG) |
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| American College of Medical Genetics and Genomics: revised scope of practice and strategic plan |
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| Correction: Corrigendum: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy |
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| In this Issue |
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| News Briefs |
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| Reproducing Genetics |
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| The challenge of defining pathogenicity: the example of AHI1 |
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| Erratum: A genome sequencing program for novel undiagnosed diseases |
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| Correction: Corrigendum: Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond |
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| In this Issue |
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| Response to Heller and Bolz |
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| News Briefs |
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| The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates |
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| Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse |
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| News Briefs |
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| Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder |
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| In this Issue |
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| Can targeted genetic testing offer useful health information to adoptees? |
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| Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes |
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| Key emerging themes for assessing the cost-effectiveness of reporting incidental findings |
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| Is there a link between COQ6 and schwannomatosis? |
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| Response to Trevisson et al. |
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| Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States? |
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| Response to Phillips et al. |
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| Correction: Corrigendum: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity |
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| In this Issue |
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| Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency |
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| News Briefs |
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| Pushing the envelope in genomics education |
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| Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies |
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| A genome sequencing program for novel undiagnosed diseases |
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| Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond |
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| Stakeholder engagement in policy development: challenges and opportunities for human genomics |
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| Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency |
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| Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics |
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| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathol |
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| Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus |
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| CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy |
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| Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing |
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| Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data |
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| The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia |
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| Legislation in the genomic era: the Affordable Care Act and genetic testing for cancer risk assessment |
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| Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia |
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| Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach |
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| Erratum: In This Issue |
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| ADDENDUM: Reviewer Acknowledgment 2014 |
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| In this Issue |
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| News Briefs |
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| Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population |
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| The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature |
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| Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective |
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| Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education |
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| Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma |
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| In This Issue |
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| Erratum: Carrier testing in children: exploration of genetic health professionals’ practices in Australia |
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| News Briefs |
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| How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study |
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| An effective strategy to prevent allopurinol-induced hypersensitivity by HLA typing |
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| Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity |
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| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios |
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| Family history and the natural history of colorectal cancer: systematic review |
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| Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories |
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| Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing |
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| Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray |
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| Symptom-driven idiopathic disease gene identification |
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| Response to Dalal et al. |
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| News Briefs |
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| Erratum: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy |
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| Correction: Corrigendum: A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome |
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| Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis |
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| Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing |
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| Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics |
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| A preliminary investigation of genetic counselors’ information needs when receiving a variant of uncertain significance result: a mixed methods study |
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| Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing |
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| Economic evaluation of genetic screening for Lynch syndrome in Germany |
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| Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis |
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| Practical guidelines for managing adults with 22q11.2 deletion syndrome |
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| In This Issue |
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| Maternal cell-free DNA–based screening for fetal microdeletion and the importance of careful diagnostic follow-up |
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| Guidance for pharmacogenomic biomarker testing in labels of FDA-approved drugs |
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| Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait |
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| SG-ADVISER CNV: copy-number variant annotation and interpretation |
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| Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature |
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| Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer |
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| The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population |
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| Researchers’ views on informed consent for return of secondary results in genomic research |
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| Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society |
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| A high-resolution copy-number variation resource for clinical and population genetics |
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| Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations |
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| Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder |
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| Genetics educational needs in China: physicians’ experience and knowledge of genetic testing |
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| Clinical utility of gene-expression profiling in women with early breast cancer: an overview of systematic reviews |
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| Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions |
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| Parents are interested in newborn genomic testing during the early postpartum period |
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| Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing |
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| The hidden harm behind the return of results from personal genome services: a need for rigorous and responsible evaluation |
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| Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations |
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| The cost-effectiveness of returning incidental findings from next-generation genomic sequencing |
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| Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations |
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| A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment |
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| Reporting genomic secondary findings: ACMG members weigh in |
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| Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease |
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| Is it time for BRCA1/2 mutation screening in the general adult population?: impact of population characteristics |
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| Correction: Corrigendum: Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension |
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| Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool |
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| Hearts and hands as the starting point |
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| Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD |
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| Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing |
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| Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions |
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| Peripatetic southern cytogenetics |
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| Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort |
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| Prenatal diagnosis in India is not limited to sex selection |
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| ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing |
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| BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study |
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| Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair–deficient tumors |
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| An overview of recommendations and translational milestones for genomic tests in cancer |
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| Celebrity disclosures and information seeking: the case of Angelina Jolie |
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| Summarizing polygenic risks for complex diseases in a clinical whole-genome report |
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| Contribution of copy-number variation to Down syndrome–associated atrioventricular septal defects |
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| Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility |
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| Mortality of New York children with sickle cell disease identified through newborn screening |
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| Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry |
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✓ |
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Jewish ancestry |
| Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing |
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| Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy |
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| Carrier testing in children: exploration of genetic health professionals’ practices in Australia |
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| Naked bodies, naked genomes: the special (but not exceptional) nature of genomic information |
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| Fabry disease in infancy and early childhood: a systematic literature review |
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| Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability |
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| Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families |
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| Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews |
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| Surveying the current landscape of clinical genetics residency training |
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| Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants |
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| Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing |
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| Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling |
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| Novel copy-number variants in a population-based investigation of classic heterotaxy |
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| Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity |
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| Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature |
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| Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers |
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| Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations |
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| Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change |
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| Informed consent for biobanking: consensus-based guidelines for adequate comprehension |
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| Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years |
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| Adverse events in cancer patients with sickle cell trait or disease: case reports |
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| Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy |
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| Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion |
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| Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations |
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| Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events |
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| Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases |
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| Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing |
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| Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature |
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| Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys |
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| The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling |
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| Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q |
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| Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer |
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| Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles |
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| Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing |
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| Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing |
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| The Genetics of Luck |
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| Cigarette smoking in women after BRCA1/2 genetic test disclosure: a 5-year follow-up study of the GENEPSO PS cohort |
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| Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter? |
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| State-based surveillance for selected hemoglobinopathies |
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| The translational potential of research on the ethical, legal, and social implications of genomics |
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| Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys |
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| Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system |
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| A systematic review and critical assessment of 11 discordant meta-analyses on reduced-function CYP2C19 genotype and risk of adverse clinical outcomes in clopidogrel users |
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| Evidence synthesis and guideline development in genomic medicine: current status and future prospects |
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| Differences in BRCA counseling and testing practices based on ordering provider type |
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| Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis |
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| Judith G. Hall: a genetic journey |
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