| In This Issue |
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| Reviewer Acknowledgment 2012 |
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| News Briefs |
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| ACMG College news |
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| News Briefs |
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| ACMG College news |
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| In This Issue |
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| In This Issue |
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| ACMG College news |
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| News Briefs |
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| News Briefs |
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| ACMG College news |
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| In This Issue |
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| Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy |
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| Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests |
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| Am I a control?: Genotype-driven research recruitment and self-understandings of study participants |
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| Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes |
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| A framework for key considerations regarding point-of-care screening of newborns |
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| Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers |
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| Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome |
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| Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease |
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| Response to Reuser |
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| Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy |
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| Correction: Corrigendum: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal) |
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| Points to consider in the clinical application of genomic sequencing |
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| News Briefs |
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| In This Issue |
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| Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice |
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| Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin |
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| The pulmonary artery in patients with Marfan syndrome: a cross-sectional study |
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| Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing |
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| Moving toward NextGenetic Counseling |
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| Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization |
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| Birth prevalence of disorders detectable through newborn screening by race/ethnicity |
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| Enhanced interpretation of newborn screening results without analyte cutoff values |
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| Homozygous null mutation in ODZ3 causes microphthalmia in humans |
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| Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis |
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| Correction: Corrigendum: Biobanking: shifting the analogy from consent to surrogacy |
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| David L. Rimoin, MD, PhD 1936–2012 |
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| In This Issue |
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| News Briefs |
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| ACMG College news |
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| Functional outcomes of adults with 22q11.2 deletion syndrome |
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| Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A |
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| Customers or research participants?: Guidance for research practices in commercialization of personal genomics |
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| Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib |
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| Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency |
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| Erratum: The past, present, and future of the debate over return of research results and incidental findings |
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| ACMG college news |
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| News Briefs |
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| Response to Srilatha et al. |
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| In This Issue |
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| Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? |
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| Prenatal healthcare providers’ Gaucher disease carrier screening practices |
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| Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population |
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Quebec French-Canadian |
| Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing |
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| Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome |
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| Association between health-service use and multiplex genetic testing |
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| Diagnostic approaches to apparent homozygosity |
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| Considering factors affecting the parental decision to abort after a prenatal diagnosis of a sex chromosome abnormality |
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| Knowledge integration at the center of genomic medicine |
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| Response to Pieters et al. |
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| In This Issue |
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| ACMG college news |
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| News Briefs |
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| Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life |
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| Preferences for opt-in and opt-out enrollment and consent models in biobank research: a national survey of Veterans Administration patients |
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| Uniparental disomy: can SNP array data be used for diagnosis? |
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| The emerging phenotype of long-term survivors with infantile Pompe disease |
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| Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research |
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| AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome |
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| Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease |
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| Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal) |
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| Telegenetics: a systematic review of telemedicine in genetics services |
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| Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia |
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| ACMG college news |
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| Toward modernizing the systematic review pipeline in genetics: efficient updating via data mining |
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| Decision analysis, economic evaluation, and newborn screening: challenges and opportunities |
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| Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies |
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| Patients’ understanding of and responses to multiplex genetic susceptibility test results |
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| The past, present, and future of the debate over return of research results and incidental findings |
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| BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening |
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| Bone mineral density in glycogen storage disease type Ia and Ib |
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| Return of results: not that complicated? |
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| Communicating new knowledge on previously reported genetic variants |
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| Managing incidental findings and research results in genomic research involving biobanks and archived data sets |
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| Broadening research consent in the era of genome-informed medicine |
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| Exploring concordance and discordance for return of incidental findings from clinical sequencing |
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| Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study |
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| Taking aims seriously: repository research and limits on the duty to return individual research findings |
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| An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience |
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| Performance of PREMM1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases |
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| Dialogues, dilemmas, and disclosures: genomic research and incidental findings |
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| Fragile X population carrier screening |
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| ACMG college news |
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| In This Issue |
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| Resources available for informed prenatal decisions |
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| Medical genetics and genomics curricula focused on the laboratory specialties |
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| Response to Metcalfe and Archibald |
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| News Briefs |
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| Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
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| Return of individual research results and incidental findings in the clinical trials cooperative group setting |
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| Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests |
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| Mapping the inputs, analyses, and outputs of biobank research systems to identify sources of incidental findings and individual research results for potential return to participants |
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| An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks |
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| A closer look revisited: are we subjects or are we donors? |
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| Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network |
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| Secondary researchers’ duties to return incidental findings and individual research results: a partial-entrustment account |
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| Intersection of biobanking and clinical care: should discrepant diagnoses and pathological findings be returned to research participants? |
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| Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project |
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| International normative perspectives on the return of individual research results and incidental findings in genomic biobanks |
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| News Briefs |
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| Taxonomizing, sizing, and overcoming the incidentalome |
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| The legal risks of returning results of genomics research |
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| Practical implementation issues and challenges for biobanks in the return of individual research results |
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| Engaging children in genomics research: decoding the meaning of assent in research |
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| New “first families”: the psychosocial impact of new genetic technologies |
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| Announcement |
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| Correction |
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| ACMG Clinical Genetics Meeting |
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| Biobanking: shifting the analogy from consent to surrogacy |
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| News Briefs |
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| In This Issue |
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| A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta |
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✓ |
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West Africans; African Americans |
| The development and implementation of an in-service exam for medical genetics residency programs |
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| Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia |
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| DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study |
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| Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations |
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| High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis |
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| How disease advocacy organizations participate in clinical research: a survey of genetic organizations |
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| Consent to DNA collection in epidemiological studies: findings from the Whitehall II cohort and the English Longitudinal Study of Ageing |
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| Personal privacy, public benefits, and biobanks: a conjoint analysis of policy priorities and public perceptions |
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| Charting ELSI’s future course: lessons from the recent past |
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| A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy |
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| Incidental findings of therapeutic misconception in biobank-based research |
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| Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals |
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| Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis |
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| Offering aggregate results to participants in genomic research: opportunities and challenges |
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| Enhancing geneticists’ perspectives of the public through community engagement |
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| The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository |
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| Barriers to integrating personalized medicine into clinical practice: a best–worst scaling choice experiment |
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| Genetics researchers’ and IRB professionals’ attitudes toward genetic research review: a comparative analysis |
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| A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial |
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| Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting |
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| NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation |
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| Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity |
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| ACMG Clinical Genetics Meeting |
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| Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study |
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| 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 |
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| An audit of clinical service examining the uptake of genetic testing by at-risk family members |
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| The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases |
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| A comprehensive survey of cancer risks in extended families |
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| Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study |
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| NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype |
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| Genes and plays: bringing ELSI issues to life |
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| “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing |
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| Enhancing exposure to genetics and genomics through an innovative medical school curriculum |
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| Caregiver opinions about fragile X population screening |
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| BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis |
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| Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature |
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| Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey |
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| Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease |
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| The impact of false-positive newborn screening results on families: a qualitative study |
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| Prader-Willi syndrome |
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| Cardiovascular findings in duplication 17p11.2 syndrome |
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| Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? |
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| IRB perspectives on the return of individual results from genomic research |
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| Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009) |
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| Toward better counseling for Down syndrome |
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| Prioritization of future genetics education for general practitioners: a Delphi study |
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| The family history: the first genetic test, and still useful after all those years? |
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| Argininosuccinate lyase deficiency |
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| Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing |
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| How can we stimulate translational research in cancer genomics beyond bench to bedside? |
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| In this Issue |
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| Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” |
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| Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations |
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| Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance |
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| Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory |
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| Evaluation of the adolescent or adult with some features of Marfan syndrome |
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| Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience |
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| Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder |
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