| Genomics education for Veterans Affairs nurses |
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| News Briefs |
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| Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer |
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| Reviewer Acknowledgment 2014 |
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| In This Issue |
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| In This Issue |
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| News Briefs |
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| Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics |
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| American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease |
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| In This Issue |
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| News Briefs |
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| Genetic counseling for women referred for advanced maternal age: a telegenetic approach |
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| Interpreting noninvasive prenatal paternity tests |
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| Response to Drábek and Cereda |
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| Regulatory changes raise troubling questions for genomic testing |
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| News Briefs |
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| In This Issue |
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| Vascular Ehlers–Danlos syndrome, pixels, and high-definition clinical genomics |
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| Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants |
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| Response to Pyeritz et al. |
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| Loeys–Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling |
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| In this Issue |
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| News Briefs |
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| Utility before business |
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| The business of genomic testing: a survey of early adopters |
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| Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer |
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| Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway |
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| News Briefs |
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| In this Issue |
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| Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome |
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| Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) |
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| The usefulness of whole-exome sequencing in routine clinical practice |
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| Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations |
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| In This Issue |
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| News Briefs |
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| How do research participants perceive “uncertainty” in genome sequencing? |
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| Postanalytical tools improve performance of newborn screening by tandem mass spectrometry |
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| Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women |
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Ethnic; Ashkenazi women |
| Translational research is a key to nongeneticist physicians’ genomics education |
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| Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations |
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| Public preferences for the return of research results in genetic research: a conjoint analysis |
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| Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations |
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| Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors |
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| Exploring pathways to trust: a tribal perspective on data sharing |
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| Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness |
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| Genetic factors affecting statin concentrations and subsequent myopathy: a HuGENet systematic review |
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| Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro |
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| Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome |
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| In This Issue |
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| News Briefs |
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| Michael Kaback: people and places |
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| Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study |
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| The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience |
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| Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics |
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| Genetic legacy and the genomic future |
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| Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing |
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| Underutilization of specimens in biobanks: an ethical as well as a practical concern? |
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| A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis |
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| Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients |
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| In This Issue |
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| Correction: Corrigendum: Phenylalanine hydroxylase deficiency: diagnosis and management guideline |
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| News Briefs |
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| The natural history of MPS I: global perspectives from the MPS I Registry |
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| Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis |
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| A single center’s experience with noninvasive prenatal testing |
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| The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated |
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| Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α |
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| Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through |
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| American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss |
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| Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway |
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| Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state |
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| Genetics and the Veterans Health Administration |
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| Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy |
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| The impact of chromosomal microarray on clinical management: a retrospective analysis |
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| Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group |
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| News Briefs |
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| In This Issue |
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| Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease |
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| Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome |
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| A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome |
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| Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system |
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| Loeys–Dietz syndrome: a primer for diagnosis and management |
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| Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish pop |
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Ashkenazi Jewish population |
| Genetic, cell biological, and clinical interrogation of theCFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention |
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| PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo |
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| Nicotinic acetylcholine receptors in human genetic disease |
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| Clinical whole-exome sequencing: are we there yet? |
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| Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results |
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| Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review |
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| The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing |
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| Delivery of clinical genetic consultative services in the Veterans Health Administration |
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| The growing role of professional societies in educating clinicians in genomics |
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| Erratum: Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D |
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| News Briefs |
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| Erratum: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium |
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| Announcement |
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| In This Issue |
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| Prostate cancer incidence in males with Lynch syndrome |
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| Attitudes of parents toward the return of targeted and incidental genomic research findings in children |
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| Correction: Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome |
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| News Briefs |
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| In This Issue |
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| Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia |
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| Horizon scanning for translational genomic research beyond bench to bedside |
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| Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board |
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| Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma |
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| Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory |
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| Recommendations for the nutrition management of phenylalanine hydroxylase deficiency |
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| Phenylalanine hydroxylase deficiency: diagnosis and management guideline |
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| Mining the human genome after Association for Molecular Pathology v. Myriad Genetics |
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| Cystic fibrosis carrier screening in a North American population |
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| Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes |
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| The Angelina effect: immediate reach, grasp, and impact of going public |
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| Angelina Jolie’s faulty gene: newspaper coverage of a celebrity’s preventive bilateral mastectomy in Canada, the United States, and the United Kingdom |
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| Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings |
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| ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis) |
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| Preferences for results delivery from exome sequencing/genome sequencing |
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| A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability |
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| In silico tools for splicing defect prediction: a survey from the viewpoint of end users |
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| Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder |
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| The economic value of personalized medicine tests: what we know and what we need to know |
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| Economic analyses of genetic tests in personalized medicine: clinical utility first, then cost utility |
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| A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy |
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| Public opinion on policy issues in genetics and genomics |
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| Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance |
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| Reduction in newborn screening metabolic false-positive results following a new collection protocol |
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| A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants a |
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| Impact of prenatal technologies on the sex ratio in India: an overview |
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| Prenatal technologies and the sex ratio |
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| Informed consent for return of incidental findings in genomic research |
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| Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation |
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| Opportunities to improve recruitment into medical genetics residency programs: survey results of program directors and medical genetics residents |
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| 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome |
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| Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D |
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| The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience |
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| Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study |
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| Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing |
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| Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment |
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| Communication of genetic test results to family and health-care providers following disclosure of research results |
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| Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies |
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| Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis |
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| Recommendations from the EGAPP Working Group: does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes? |
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| Processes and factors involved in decisions regarding return of incidental genomic findings in research |
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| Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study—United States, 1997–2007 |
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| “Is a cure in my sight?” Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials |
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| Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma |
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| Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research |
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| Effectiveness of a Web-based genomics training for health educators in Texas |
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| Risk estimates for complex disorders: comparing personal genome testing and family history |
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| Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition |
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| Noninvasive prenatal testing: limitations and unanswered questions |
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| Promoting the participant–researcher partnership |
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| Factors influencing organizational adoption and implementation of clinical genetic services |
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| Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology |
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| The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders |
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| Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Dis |
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| Patient management and the association of less common familial Mediterranean fever symptoms with other disorders |
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| Subjectivity in chromosome band–level estimation: a multicenter study |
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| Medical management adherence as an outcome of genetic counseling in a pediatric setting |
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| Understanding of informed consent by parents of children enrolled in a genetic biobank |
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| Variations in predicted risks in personal genome testing for common complex diseases |
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| An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy |
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✓ |
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Ashkenazi Jewish |
| Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome |
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| A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians |
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| Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders |
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| Next-generation carrier screening |
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| The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system |
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| Parents’ interest in whole-genome sequencing of newborns |
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| Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome |
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| Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes |
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| Effectiveness of oncogenetics training on general practitioners’ consultation skills: a randomized controlled trial |
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| Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders |
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| Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency |
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| The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia |
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| Public preferences regarding informed consent models for participation in population-based genomic research |
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