| News |
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| In This Issue |
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| In This Issue |
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| News |
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| In This Issue |
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| News |
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| Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation |
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| Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers |
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| Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants |
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| Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation |
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| Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment |
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| Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic |
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| In This Issue |
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| News |
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| Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project |
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| Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations |
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| An Anti-Racism Toolkit for the Genetics Educator |
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| Role of POLE and POLD1 in familial cancer |
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| Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 |
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| Considerations in assessing germline variant pathogenicity using cosegregation analysis |
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| A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation |
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| A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients |
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| Genotype–phenotype correlations in recessive titinopathies |
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| DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration |
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| Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men |
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| Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort |
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| Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range |
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| Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome |
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| Assessing non-Mendelian inheritance in inherited axonopathies |
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| Application of exome sequencing for prenatal diagnosis: a rapid scoping review |
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| Correction: Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection |
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| News |
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| In This Issue |
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| Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment |
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| Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders |
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| Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism |
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| Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network |
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| Correction: Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group |
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| A genomics approach to male infertility |
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| Parental experiences of ultrarapid genomic testing for their critically unwell infants and children |
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| Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes |
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| Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 |
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| De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome |
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| Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database |
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| Patient reactions to receiving negative genomic screening results by mail |
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| Participant choices for return of genomic results in the eMERGE Network |
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| Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions |
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| Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants |
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| The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases |
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| Response to Heiner-Fokkema et al. |
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| Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time |
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| Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection |
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| A six-attribute classification of geneticmosaicism |
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| Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East |
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African ancestor |
| Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation |
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| Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing |
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| Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation |
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| Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort |
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| Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review |
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| Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project |
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| News |
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| In This Issue |
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| Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center |
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| Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines |
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Genetic ancestry; ethnicity-based medical guidelines |
| Response to Ferket et al. |
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| Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals |
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| Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al |
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| Economic value of exome sequencing for suspected monogenic disorders |
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| Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study |
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| Message from ACMG President: overcoming disparities |
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| A molecular basis for neurofibroma-associated skeletal manifestations in NF1 |
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| Clinical outcomes of a genomic screening program for actionable genetic conditions |
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| Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing |
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| BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome |
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| Genetic testing and results disclosure in diverse populations: what does it take? |
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| Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation |
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| CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels |
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| The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review |
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| Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 |
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| Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility |
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| Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study |
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| Frequency of genomic secondary findings among 21,915 eMERGE network participants |
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| Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience |
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| Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes |
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| Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice |
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| What’s in a name? Issues to consider when naming Mendelian disorders |
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| Training the next generation of genomic medicine providers: trends in medical education and national assessment |
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| Genetics and pediatric hospital admissions, 1985 to 2017 |
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| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness |
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| The limited use of US residual newborn screening dried bloodspots for health disparity research |
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| Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing |
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| Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots |
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| Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon |
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| Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome |
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| Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities |
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| Societal considerations in host genome testing for COVID-19 |
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| COVID-19’s Impact on Genetics at One Medical Center in New York |
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| SMAD6 variants in craniosynostosis: genotype and phenotype evaluation |
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| Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia |
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| Revealing hidden genetic diagnoses in the ocular anterior segment disorders |
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| In This Issue |
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| News |
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| A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants |
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| Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) |
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| Automated syndrome diagnosis by three-dimensional facial imaging |
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| Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use |
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| The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause |
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| Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach |
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| Confirmation of risk of cancer in blepharocheilodontic syndrome |
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| TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study |
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| How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens |
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| Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy |
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| Correction: The genomic and clinical landscape of fetal akinesia |
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| Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis |
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| Diagnosing hereditary cancer predisposition in men with prostate cancer |
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| Response to Bai et al. |
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| Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy |
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| Comment on the criteria for interpretation of mitochondrial tRNA variants |
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| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants |
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| Patient experience of uncertainty in cancer genomics: a systematic review |
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| Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction |
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| Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer |
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| Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy |
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| Response to Benusiglio et al. |
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| CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Ge |
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| The leadership behaviors needed to implement clinical genomics at scale: a qualitative study |
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| Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant ca |
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✓ |
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European patients |
| Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes |
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| COVID-19 outcomes and the human genome |
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| Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 |
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| In This Issue |
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| News |
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| Longitudinal follow-up after telephone disclosure in the randomized COGENT study |
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| Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 |
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| Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health |
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| The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments |
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| Biases in arginine codon usage correlate with genetic disease risk |
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| Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes |
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| Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach |
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| De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy |
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| Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses |
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| Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis |
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| Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions |
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| Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic |
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| Response to Maya et al. |
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| Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma |
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| The prevalence of genetic diagnoses in fetuses with severe congenital heart defects |
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| High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines? |
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| DLG2 variants in patients with pubertal disorders |
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| Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG) |
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| A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism |
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| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics |
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| Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care |
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| The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease |
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| Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2) |
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| Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) |
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| Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis |
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| The landscape of pharmacogenetic testing in a US managed care population |
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| X-linked diseases: susceptible females |
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| Correction: Interpretation of mitochondrial tRNA variants |
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| News |
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| In This Issue |
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| Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq |
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| Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance |
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| Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome |
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| Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability |
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| Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
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| Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach |
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| Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders |
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| Correction: Interpretation of mitochondrial tRNA variants |
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| Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG) |
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| News |
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| In This Issue |
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| Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance |
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| Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span |
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| Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus |
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| The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease |
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| Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol’s evolution |
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| Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG |
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| Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival |
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| Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data |
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| Disparities in BRCA counseling across providers in a diverse population of young breast cancer survivors |
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| Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer |
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| The morbid genome of ciliopathies: an update |
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| Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder |
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| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations |
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| The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease |
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| Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA |
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| In This Issue |
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| News |
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| Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1 |
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| Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers |
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| Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project |
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| An approach to integrating exome sequencing for fetal structural anomalies into clinical practice |
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| Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome |
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| Mobile element insertion detection in 89,874 clinical exomes |
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| Interpretation of mitochondrial tRNA variants |
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| Defining the clinical phenotype of Saul–Wilson syndrome |
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| A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome |
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| GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder |
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| Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises |
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| The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) |
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| Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots” |
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| Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing |
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| Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature |
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| Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency |
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| News |
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| In This Issue |
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| Clustering of comorbid conditions among women who carry an FMR1 premutation |
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| Assessing relatives’ readiness for hereditary cancer cascade genetic testing |
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| Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract |
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| Parents’ perceptions of personal utility of exome sequencing results |
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| Clinical utility of genetic testing in 201 preschool children with inherited eye disorders |
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| Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort |
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| Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral |
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| Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma |
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| Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants |
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| Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis |
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| Germline genetic testing for breast cancer: which patients? What genes? |
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| Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and G |
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| Response to Potuijt et al. |
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| It all begins with the phenotype |
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| Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial |
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| Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening |
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| Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| The case for implementing sustainable routine, population-level genomic reanalysis |
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| Laird G. Jackson, MD, FACMG |
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| A structured genetics rotation for pediatric residents: an important educational opportunity |
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| Response to Dominguez-Valentin M et al. 2019: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database |
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| Response to Tolva et al. |
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| Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield |
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| De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy |
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| Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta |
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| Correction: Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists |
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| Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system |
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| Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database |
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| Optimizing genetics online resources for diverse readers |
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| When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines |
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| Accurate detection of clinically relevant uniparental disomy from exome sequencing data |
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| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients |
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| Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties |
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| The case for banning heritable genome editing |
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| Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Response to Rubanovich et al. |
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| Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) |
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| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder |
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| Response to Zhang et al. |
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| Detection of iron deficiency in children with Down syndrome |
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| Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction |
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| The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data |
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| Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria |
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| Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and th |
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| Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition |
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| Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists |
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| The genomic and clinical landscape of fetal akinesia |
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| Response to Sistermans et al. |
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| POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 |
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| Response to Baertling et al. |
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| Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia |
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| Functional characterization of 84 PALB2 variants of uncertain significance |
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| Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants |
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| Is there a duty to reinterpret genetic data? The ethical dimensions |
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| The implementation of newborn screening for spinal muscular atrophy: the Australian experience |
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| Exome sequencing: value is in the eye of the beholder |
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| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases |
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| Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets |
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| Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study |
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| Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases |
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| Response to Gomy and Garber |
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| Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency |
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| One step forward, two steps backward |
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| Heme as an initial treatment for severe decompensation in tyrosinemia type 1 |
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| Response to Toutain et al. |
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| Response to Neeleman et al. |
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| Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes |
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| Correction: Creating genetic reports that are understood by nonspecialists: a case study |
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| Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants |
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| Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update |
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| Clinical utility of exome sequencing in infantile heart failure |
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| Correction: Regional models of genetic services in the United States |
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| Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study |
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| Creating genetic reports that are understood by nonspecialists: a case study |
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| Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) |
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| Regional models of genetic services in the United States |
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| The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy |
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| Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition |
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| Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants |
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| The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system |
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| Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve |
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| Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening |
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| Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review |
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| AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature |
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| Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis |
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| Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause |
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| The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders |
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| The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency |
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| Detection of iron deficiency in children with Down syndrome |
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| Genetics workforce: distribution of genetics services and challenges to health care in California |
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| Who’s on third? Regulation of third-party genetic interpretation services |
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| A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients |
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| Response to Cody |
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| A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud |
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| Re-evaluation of the classification system for the clinical interpretation of genomic copy number variation |
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| Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA |
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| The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis |
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| A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes |
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| CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later |
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| Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals |
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| A genetic model for multimorbidity in young adults |
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| The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing |
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| The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom |
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| Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria |
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| Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination |
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| Developing interactions with industry in rare diseases: lessons learned and continuing challenges |
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| Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases |
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| Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome |
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| Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database |
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| Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism |
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| Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes |
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| Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit |
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| A clinical scoring system for congenital contractural arachnodactyly |
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| Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting |
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| The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service |
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| Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial |
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| Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy |
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| Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism |
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| Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing |
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| Using the Delphi method to identify clinicians’ perceived importance of pediatric exome sequencing results |
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| Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix |
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| Genetic Medicine for Adult Onset Disease |
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| Nucleic Acids, Genes, and Genomes |
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| Laboratory Techniques and the Sequencing Revolution |
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| Pharmacogenetics and Personalized Medicine |
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| Mutations and Genetic Variation |
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| The Application of Genetic Medicine in Childhood |
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