| In This Issue |
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| News Briefs |
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| Correction: Corrigendum: Distributive justice, diversity, and inclusion in precision medicine: what will success look like? |
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| Correction: Corrigendum: Prediction of CYP2D6 phenotype from genotype across world populations |
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| In This Issue |
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| News Briefs |
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| In This Issue |
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| Congenital heart defects in Noonan syndrome and RIT1 mutation |
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| Correction: Corrigendum: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families |
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| Response to Calgani et al. |
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| News Briefs |
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| Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available |
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| Response to van Rijt et al. |
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| Imprinting: the Achilles heel of trio-based exome sequencing |
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| Epidemiology matters: peering inside the “black box” in economic evaluations of genetic testing |
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| News Briefs |
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| In This Issue |
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| Long-term follow-up in newborn screening: the role of collaboration |
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| A panoramic view of the accuracy of molecular genetic testing |
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| News Briefs |
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| In This Issue |
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| Correction: Corrigendum: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort |
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| 2016 ACMG Annual Meeting presidential address: the practice of medical genetics: myths and realities |
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| Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics |
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| Response to Sierra-Delgado et al. |
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| Use of bioinformatic tools in primer validation |
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| Correction: Corrigendum: Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation |
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| ADDENDUM: Technical standards and guidelines for spinal muscular atrophy testing |
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| In This Issue |
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| News Briefs |
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| Erratum: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis |
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| In This Issue |
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| Correction: Corrigendum: Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology |
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| A knowledge base for tracking the impact of genomics on population health |
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| De novo mutations in autosomal recessive congenital malformations |
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| What are people willing to pay for whole-genome sequencing information, and who decides what they receive? |
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| Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience |
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| Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1 |
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| Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing |
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| Is it Fabry disease? |
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| Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions |
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| Erratum: Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities |
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| Recommendations for the integration of genomics into clinical practice |
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| Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State |
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| Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency |
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| CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel |
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| Family health history reporting is sensitive to small changes in wording |
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| Correction: Corrigendum: Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing |
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| In This Issue |
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| News Briefs |
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| Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists |
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| Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpretin |
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| Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities |
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| Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden |
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| A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation |
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| Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities |
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| Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation |
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| Research participant interest in primary, secondary, and incidental genomic findings |
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| Response to Patryn and Zagaja |
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| Live births, natural losses, and elective terminations with Down syndrome in Massachusetts |
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| Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations |
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| Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model |
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| It’s time to ramp up genetic counseling training |
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| Designing babies through gene editing: science or science fiction? |
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| Carrier screening in the era of expanding genetic technology |
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| Biobanks and consent with a terminal clause |
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| In This Issue |
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| Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation |
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| Erratum: Cystic fibrosis on the African continent |
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| Low risk of solid tumors in persons with Down syndrome |
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| News Briefs |
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| Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome |
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| Parents’ experiences with requesting carrier testing for their unaffected children |
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| Patient safety in genomic medicine: an exploratory study |
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| The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations |
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| Overcalling secondary findings |
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| An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants |
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| Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis |
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| Archibald E. Garrod: the father of precision medicine |
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| Response to Cunningham et al. |
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| Role of medical food in MMA |
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| Response to Biesecker |
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| Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases |
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| The complex behavioral phenotype of 15q13.3 microdeletion syndrome |
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| Clinical utility of a Web-enabled risk-assessment and clinical decision support program |
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| Expanded carrier screening in an infertile population: how often is clinical decision making affected? |
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| An electronic atlas of human malformation syndromes in diverse populations |
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| Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age |
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| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
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| Announcement |
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| In this Issue |
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| Erratum: Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium |
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| Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study |
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| Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing |
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| Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis |
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| Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease |
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| Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom |
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| Implementation of the 21-gene recurrence score test in the United States in 2011 |
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| Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations |
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| Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses |
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| The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research |
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| Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study |
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| Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability |
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| New targets for monitoring and therapy in Barth syndrome |
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| Should states adopt newborn screening for early infantile Krabbe disease? |
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| Improving performance of multigene panels for genomic analysis of cancer predisposition |
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| In this Issue |
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| News Briefs |
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| Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees |
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| Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A |
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| Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach |
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| Predictive genetic testing of minors: evidence and experience with families |
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| Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families |
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| Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 |
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| Response to Sahoo et al. |
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| “You want the right amount of oversight”: interviews with data access committee members and experts on genomic data access |
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| Newborn screening for Krabbe disease in New York State: the first eight years’ experience |
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| Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
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| Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern? |
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| Privacy-preserving genomic testing in the clinic: a model using HIV treatment |
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| Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type |
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| Parental DNA sequence is critical family history in clinical genomics |
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| ADDENDUM: Technical standards and guidelines for myotonic dystrophy type 1 testing |
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| Correction: Corrigendum: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers |
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| Reviewer Acknowledgment 2015 |
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| News Briefs |
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| Erratum: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing |
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| ADDENDUM: Laboratory guideline for Turner syndrome |
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| In this Issue |
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| Expanding the genetic counseling workforce: program directors’ views on increasing the size of genetic counseling graduate programs |
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| Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis |
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| The psychological impact of genetic information on children: a systematic review |
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| Mosaic mutations in early-onset genetic diseases |
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| Evaluation of the incremental prognostic value of the combination of CYP2C19 poor metabolizer status and ABCB1 3435 TT polymorphism over conventional risk factors for cardiovascular events after drug- |
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✓ |
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East Asians |
| Pharmacogenomic biomarkers as inclusion criteria in clinical trials of oncology-targeted drugs: a mapping of ClinicalTrials.gov |
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| VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data |
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| Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification |
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| Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma |
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| Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing |
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| Newborn testing and screening by whole-genome sequencing |
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| Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics |
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| Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features |
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| Ethics of children’s participation in a Saudi biobank: an exploratory survey |
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| Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California |
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| Cystic fibrosis on the African continent |
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| Ashkenazi carrier screening for reproductive planning: is this what we planned for? |
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Ashkenazi |
| Clinical utility of genetic and genomic services: context matters |
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| Response to Zlotogora and Meiner |
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| Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort |
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| Clinical application of whole-exome sequencing across clinical indications |
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| Economic evaluation of whole-genome sequencing in healthy individuals: what can we learn from CEAs of whole-body CT screening? |
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| Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium |
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| Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology |
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| The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data |
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| Molecular diagnostic experience of whole-exome sequencing in adult patients |
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| What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians |
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| Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants |
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| Using a gene expression signature when controversy exists regarding the indication for adjuvant systemic treatment reduces the proportion of patients receiving adjuvant chemotherapy: a nationwide stud |
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| A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States |
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| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency |
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| Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation |
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| Participant use and communication of findings from exome sequencing: a mixed-methods study |
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| Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation |
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| The promise and peril of genomic screening in the general population |
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| Bias in CFTR screening panels |
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| Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy |
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| Response to Sosnay et al. |
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| Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing |
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| Retraction Note: Retraction notice for: “Validation of a multiplex genotyping platform using a novel genomic database approach” |
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| Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings |
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| Multigene panels in prostate cancer risk assessment: a systematic review |
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| Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta |
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| Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types |
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| Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
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| The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy |
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| Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies |
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| Expanded genetic screening panel for the Ashkenazi Jewish population |
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| Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public |
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| LINE-1 in cancer: multifaceted functions and potential clinical implications |
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| Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates |
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| Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants |
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| A germline chromothripsis event stably segregating in 11 individuals through three generations |
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| The genetic landscape of Alzheimer disease: clinical implications and perspectives |
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| Genetic causal attributions for weight status and weight loss during a behavioral weight gain prevention intervention |
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| What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative |
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| A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency |
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| A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing |
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| A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias |
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| Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure |
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| The current state of cancer genetic counseling access and availability |
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| Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort |
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| The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care |
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| The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing |
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| Mutations in JMJD1C are involved in Rett syndrome and intellectual disability |
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| Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders |
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| Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? |
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| Aortic dilation, genetic testing, and associated diagnoses |
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| POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance |
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| The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers |
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| Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research |
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| Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene |
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| Cystic fibrosis carrier screening effects on birth prevalence and newborn screening |
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| Individual DNA samples and health information sold by 23andMe |
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| Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome |
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| Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns |
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| Clinical phenotype of the recurrent 1q21.1 copy-number variant |
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| State-offered ethnically targeted reproductive genetic testing |
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| Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement |
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| Age-related macular degeneration: genome-wide association studies to translation |
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| Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect |
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| Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review |
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| Efficacy of a medical genetics rotation during pediatric training |
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| With great (participant) rights comes great (researcher) responsibility |
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| Brugada syndrome: clinical and genetic findings |
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| Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial |
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| A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer |
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| Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk |
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| Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
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| The Israeli national population program of genetic carrier screening for reproductive purposes |
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| Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators |
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| Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics |
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| Family decision maker perspectives on the return of genetic results in biobanking research |
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| Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? |
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| PMS2 monoallelic mutation carriers: the known unknown |
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| Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening |
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| Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing |
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| A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II |
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| Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency) |
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| The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories |
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| Risk of new tumors in von Hippel–Lindau patients depends on age and genotype |
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| Interactive multimedia consent for biobanking: a randomized trial |
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| Difficulties in diagnosing Marfan syndrome using current FBN1 databases |
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| Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing |
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| Treacher Collins syndrome: a clinical and molecular study based on a large series of patients |
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| High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets |
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| Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study |
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