| Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey |
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| In This Issue |
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| In This Issue |
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| News Briefs |
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| Management of ophthalmologic manifestations of mitochondrial diseases |
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| Response to Newman et al. |
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| In This Issue |
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| Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? |
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| Response to Hartley et al. and Mullegama et al. |
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| Fragile X testing as a second-tier test |
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| In This Issue |
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| Response to Koeller et al. |
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| In This Issue |
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| Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations |
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| Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations |
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| Health effects of the CPT1A P479L variant: responsible public health policy |
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| Should we implement population screening for fragile X? |
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| Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society |
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| Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| A new era in the interpretation of human genomic variation |
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| In This Issue |
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| News Briefs |
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| Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics |
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| Quantifying survival in patients with Proteus syndrome |
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| Response to Herbert et al. |
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| Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening |
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| Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients |
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| The importance of communicating histories of gender assignment and reassignment to genetic laboratories |
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| Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example |
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| Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014 |
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| Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review |
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| Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases |
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| Medical genetics and genomics education: how do we define success? Where do we focus our resources? |
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| Oral D-galactose supplementation in PGM1-CDG |
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| Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn |
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| In This Issue |
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| News Briefs |
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| Sources of discordance among germ-line variant classifications in ClinVar |
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| Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians |
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Ashkenazi Jews |
| Sharing data under the 21st Century Cures Act |
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| A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations |
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| Do the data really support ordering fragile X testing as a first-tier test without clinical features? |
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| Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges |
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| Using high-resolution variant frequencies to empower clinical genome interpretation |
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| Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy |
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| Gene patents still alive and kicking: their impact on provision of genetic testing for long QT syndrome in the Canadian public health-care system |
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| In This Issue |
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| Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families |
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| Improving the evaluation of milestones for students completing a clinical genetics elective |
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| Response to Laissue et al. |
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| Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria |
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| Response to de Vries et al. |
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| Correction: Corrigendum: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing |
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| Identifying “ownership” through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome |
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| The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations |
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| Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing |
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| A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder |
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| Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing? |
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| A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team |
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| Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders |
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| Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research |
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| ACMG secondary findings 2.0 |
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| Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency |
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| Response to Biesecker |
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| Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center |
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| CDH1 germline mutations: different syndromes, same management? |
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| Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development |
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| Addressing a patient-controlled approach for genomic data sharing |
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| Possible barriers for genetic counselors returning actionable genetic research results across state lines |
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| Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder |
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| In This Issue |
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| The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists |
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| Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis |
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| News Briefs |
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| Correction: Corrigendum: Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics |
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| Correction: Corrigendum: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical |
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| Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation |
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| Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes? |
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| Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death |
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| 21-Gene recurrence score testing among Medicare beneficiaries with breast cancer in 2010–2013 |
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| A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology |
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| Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort |
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| Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells |
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| Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 |
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| The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome |
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| Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example |
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| Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar |
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| News Briefs |
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| In This Issue |
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| ADDENDUM: Reviewer Acknowledgment 2016 |
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| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results |
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| A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes |
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| Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing |
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| Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience |
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| Clinical and molecular consequences of disease-associated de novo mutations in SATB2 |
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| In This Issue |
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| News Briefs |
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| Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement |
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| Motivations of participants in the citizen science of microbiomics: data from the British Gut Project |
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| Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China |
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| Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1 |
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| Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study |
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| Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics |
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| Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data |
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| Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data |
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| GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity |
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| Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma |
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| The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing |
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| Recontacting participants for expanded uses of existing samples and data: a case study |
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| Conflicts of interest in genetic counseling: acknowledging and accepting |
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| Promoting appropriate genetic testing: the impact of a combined test review and consultative service |
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| Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes |
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| Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum |
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| Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans |
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African Americans |
| A taxonomy of medical uncertainties in clinical genome sequencing |
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| The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population |
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| A curated gene list for reporting results of newborn genomic sequencing |
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| Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing |
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| PhenX measures for phenotyping rare genetic conditions |
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| The current state of implementation science in genomic medicine: opportunities for improvement |
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| In This Issue |
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| News Briefs |
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| Reviewer Acknowledgment 2016 |
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| Correction: Corrigendum: Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach |
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| Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol (Right Drug, Right Dose, Right Time) |
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| Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics |
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| Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics |
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| The value of genetic testing: beyond clinical utility |
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| Public variant databases: liability? |
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| Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral |
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Ashkenazi Jews |
| The Precision Medicine Initiative’s All of Us Research Program: an agenda for research on its ethical, legal, and social issues |
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| Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases |
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| The cost of molecular-guided therapy in oncology: a prospective cost study alongside the MOSCATO trial |
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| Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features |
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| Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience |
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| The ABMGG’s response to a commentary on the decision to create a 24-month specialty of Laboratory Genetics and Genomics |
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| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics |
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| Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics |
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| Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients |
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| A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories |
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| Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk |
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| β-Thalassemia |
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| Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome |
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| Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders |
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| Precision engagement: the PMI’s success will depend on more than genomes and big data |
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| A comprehensive strategy for exome-based preconception carrier screening |
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| The need for a next-generation public health response to rare diseases |
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| Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing |
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| Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story |
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| Engagement and communication among participants in the ClinSeq Genomic Sequencing Study |
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| Genetics/genomics education for nongenetic health professionals: a systematic literature review |
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| Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations |
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| Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America |
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| Experiences from a pilot program bringing BRCA1/2 genetic screening to the |
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| Improving biobank consent comprehension: a national randomized survey to assess the effect of a simplified form and review/retest intervention |
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| Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening |
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| Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality |
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| Genetic modifiers of CHEK2*1100delC-associated breast cancer risk |
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| Universal tumor screening for Lynch syndrome: health-care providers’ perspectives |
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| Increasing the sensitivity of clinical exome sequencing through improved filtration strategy |
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| Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority tri |
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| Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia |
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| Multidisciplinary model to implement pharmacogenomics at the point of care |
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| Mastering genomic terminology |
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| The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort |
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| The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat |
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| Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening |
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| Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening |
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| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene |
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| All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms |
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| Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation |
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| Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation |
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| Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study |
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| A dominant variant in DMXL2 is linked to nonsyndromic hearing loss |
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| My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings |
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| Clinical relevance of small copy-number variants in chromosomal microarray clinical testing |
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| Engaging Māori in biobanking and genomic research: a model for biobanks to guide culturally informed governance, operational, and community engagement activities |
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| Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome |
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| Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections |
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| Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature |
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| A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis |
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| arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs |
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| Estimation of the number of people with Down syndrome in the United States |
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| Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies |
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| Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies |
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| Milestones for medical students completing a clinical genetics elective |
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| Effect of decision aid for breast cancer prevention on decisional conflict in women with a BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial |
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| Exploring the importance of case-level clinical information for variant interpretation |
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| Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results |
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| Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples |
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| Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening |
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| Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians |
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| Obesity in adults with 22q11.2 deletion syndrome |
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| A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome |
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| Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases |
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| Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores |
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| Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population |
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| NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development |
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| Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors |
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| Distributive justice, diversity, and inclusion in precision medicine: what will success look like? |
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| Is “incidental finding” the best term?: a study of patients’ preferences |
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| EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality |
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| The significant impact of education, poverty, and race on Internet-based research participant engagement |
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| Macrocephaly associated with the DICER1 syndrome |
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| Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers |
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| Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) |
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| How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease |
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| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation |
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| Prediction of CYP2D6 phenotype from genotype across world populations |
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| Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy |
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| Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists |
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| Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases |
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| The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT |
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| Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation |
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| Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges |
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| Newborn genetic screening for hearing impairment: a population-based longitudinal study |
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| Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing |
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| Tracheal cartilaginous sleeves in children with syndromic craniosynostosis |
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| The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families |
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| Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression |
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| Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 |
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| Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab |
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| Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients |
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✓ |
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nonwhite |
| Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response |
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