| CNV profiles of Chinese pediatric patients with developmental disorders |
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| News |
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| In This Issue |
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| Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders |
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| Correction: Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives |
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| Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment |
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| Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission |
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| A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders |
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| Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 |
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| Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative |
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| De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy |
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| Health and economic outcomes of newborn screening for infantile-onset Pompe disease |
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| Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network |
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| Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report |
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| De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females |
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| A state-based approach to genomics for rare disease and population screening |
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| De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females |
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| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids |
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| Neurofilament light chain levels correlate with clinical measures in CLN3 disease |
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| Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots |
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| Evaluating the resource implications of different service delivery models for offering additional genomic findings |
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| Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort |
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| Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease |
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| High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening |
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| Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition |
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| Cardiovascular risk factors and body composition in adults with achondroplasia |
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| Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder |
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| Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease |
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| Correction: A randomized controlled trial of an online health tool about Down syndrome |
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| Correspondence on “The role of clinical response to treatment in determining pathogenicity of genomic variants” by Shen et al. |
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| Evaluating variants classified as pathogenic in ClinVar in the DDD Study |
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| New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics |
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| Impact of integrated translational research on clinical exome sequencing |
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| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns |
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| Analysis of laboratory reporting practices using a quality assessment of a virtual patient |
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| Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss |
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| Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology |
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| The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction |
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| Correction: Long-awaited progress in addressing genetic discrimination in the United States |
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| Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies |
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| Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening |
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| Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities |
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| Dopachrome tautomerase variants in patients with oculocutaneous albinism |
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| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science |
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| The role of clinical response to treatment in determining pathogenicity of genomic variants |
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| Correspondence on “Aminoacyl-tRNA synthetase deficiencies in search of common themes” by Fuchs et al. |
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| Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance |
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| Response to Shen and Zou |
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| Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases |
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| Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies |
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| A systematic review of monogenic etiologies of nonimmune hydrops fetalis |
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| Correction: Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome |
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| Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy |
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| JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome |
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| A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism |
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| Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results |
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| Long-awaited progress in addressing genetic discrimination in the United States |
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| Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Individuals with Down syndrome hospitalized with COVID-19 have more severe disease |
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| Addendum: Technical standards and guidelines for spinal muscular atrophy testing |
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| Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions |
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| A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none? |
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| Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy |
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| Return of results in a global survey of psychiatric genetics researchers: practices, attitudes, and knowledge |
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| CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening |
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| Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia |
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| Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management |
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| Response to Briuglia et al. |
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| Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives |
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| Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al. |
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| Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature |
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| Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) |
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| Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease |
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| Response to Thibodeau and Langlois |
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| Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al. |
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| Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls |
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| A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations |
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| (Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada |
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| Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis |
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| Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death |
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| Interpreting the impact of noncoding structural variation in neurodevelopmental disorders |
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| Clinical impact of genomic testing in patients with suspected monogenic kidney disease |
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| Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes |
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| The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists |
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| Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant |
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| Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis |
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| Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome |
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| Predicting the risk of cardiac myxoma in Carney complex |
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| Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls |
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| Response to Faulkner et al. |
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| Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc |
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| Correspondence on “Is there a duty to reinterpret genetic data? The ethical dimensions” by Appelbaum 17:39et al. |
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| DOORS syndrome and a recurrent truncating ATP6V1B2 variant |
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| Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria |
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| A novel statistical method for interpreting the pathogenicity of rare variants |
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| Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations |
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| A randomized controlled trial of an online health tool about Down syndrome |
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| Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm |
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| The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment |
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| Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms |
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| Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer |
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| Response to Mounts and Besser |
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| Galactokinase deficiency: lessons from the GalNet registry |
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| When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation |
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| Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies |
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| Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease |
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| Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review |
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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 to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids |
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| Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants |
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| News |
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| In This Issue |
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| News |
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| In This Issue |
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| Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot |
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| Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations |
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| Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Expanded phenotype of AARS1-related white matter disease |
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| Correction: The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage |
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| A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings |
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| Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis |
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| A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective |
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| The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature |
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| Correction to: Focused Revision: Policy statement on folic acid and neural tube defects |
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| Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy |
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| The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage |
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| PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families |
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| Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth |
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| Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records |
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| Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study |
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| Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial |
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| Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy |
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| Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications |
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| News |
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| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome |
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| Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder |
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| Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior |
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| Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III |
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| Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study |
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| In This Issue |
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| Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves |
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| Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants |
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| Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension |
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| Residual risk for additional recessive diseases in consanguineous couples |
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| Correction to: Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency |
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| Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation |
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| Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Clinical and genomic characterization of 8p cytogenomic disorders |
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| Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review |
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| Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing |
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| Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen |
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| Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia |
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| Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study |
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| Neptune: an environment for the delivery of genomic medicine |
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| Increased risk for dementia in neurofibromatosis type 1 |
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| Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities |
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| Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care |
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| Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer |
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| Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency |
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| Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies |
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| High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families |
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| Disclosure of genetic information to family members: a systematic review of normative documents |
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| Response to Resta et al. |
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| Correction to: Cardiovascular risk factors and body composition in adults with achondroplasia |
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| Ethical challenges for a new generation of early-phase pediatric gene therapy trials |
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| Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al. |
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| A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting |
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| Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes |
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| One is the loneliest number: genotypic matchmaking using the electronic health record |
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| Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks |
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| Focused Revision: Policy statement on folic acid and neural tube defects |
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| Missense NAA20 variantsimpairing the NatB protein N-terminal acetyltransferase cause autosomal recessivedevelopmental delay, intellectual disability, and microcephaly |
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| InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors |
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| Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss |
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| Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics ( |
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| Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis |
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| Treatment of ARS deficiencies with specific amino acids |
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| Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy |
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| An integrative multiomics analysis identifies putative causal genes for COVID-19 severity |
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| Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Can you hear us now? The impact of health-care utilization by rare disease patients in the United States |
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| News |
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| Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish |
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| Mucolipidosis type II and type III: a systematic review of 843 published cases |
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| In This Issue |
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| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations |
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| Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype |
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| Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency |
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| Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Response to Suay-Corredera et al. |
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| Response to Stern et al. |
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| Genome-wide cell-free DNA screening: a focus on copy-number variants |
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| Correspondence on “Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)” by Ferreira et al. |
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| The genetic architecture of Plakophilin 2 cardiomyopathy |
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| Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions |
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| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders |
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| A framework for automated gene selection in genomic applications |
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| Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompso |
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| Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot |
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| Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity |
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| Cost or price of sequencing? Implications for economic evaluations in genomic medicine |
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| The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant |
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✓ |
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women of European ancestry |
| PIGG variant pathogenicity assessment reveals characteristic features within 19 families |
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| Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 |
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| GenomeDiver: a platform for phenotype-guided medical genomic diagnosis |
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| Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance |
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| Ask me later: deciding to have clinical exome trio sequencing for my critically ill child |
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| Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer |
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| Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation |
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| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies |
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| Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al. |
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| Response to Riccardi et al. |
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| X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model |
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| News |
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| In This Issue |
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| Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care |
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| SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome |
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| UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly |
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| Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders |
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| Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes |
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| Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases |
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| Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth |
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| A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia |
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| ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Privacy practices using genetic data from cell-free DNA aneuploidy screening |
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| Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States |
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| One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation |
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| Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry |
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| Severity modeling of propionic acidemia using clinical and laboratory biomarkers |
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| Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test |
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| Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) |
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| Genetic counseling and testing for Asian Americans: a systematic review |
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| Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection |
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| Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome |
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| Reproductive outcomes in individuals with chromosomal reciprocal translocations |
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| Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS) |
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| Laboratory business models and practices: implications for availability and access to germline genetic testing |
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| Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants |
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| Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers |
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| Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure |
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| The 2019 US medical genetics workforce: a focus on clinical genetics |
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| Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype |
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| Correspondence on “DOORS syndrome and a recurrent truncating ATP6V1B2 variant” by Beauregard-Lacroix et al. |
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| Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts |
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| Response to Gao et al. |
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| The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals |
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| Approaches to assessing the provider experience with clinical pharmacogenomic information: a scoping review |
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| Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients |
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| Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size |
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| Correction: The illusion of polygenic disease risk prediction |
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| Correction to: Correspondence on “AminoacyltRNA synthetase deficiencies in search of common themes” by Fuchs et al. |
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| Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma |
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| Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders |
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| In This Issue |
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| News |
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| One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency |
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| Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes |
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| Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield |
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| Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans |
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| Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain |
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| Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities |
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| Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities |
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| Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic |
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| Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder |
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| Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics) |
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| Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing |
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| Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic |
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| 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) |
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| Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) |
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| From genes to public health: are we ready for DNA-based population screening? |
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| DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG) |
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| Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network |
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| Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation |
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| Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing |
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| Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights |
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| Reducing Sanger confirmation testing through false positive prediction algorithms |
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| Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility |
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| In This Issue |
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| Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing |
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| Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample |
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| Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project |
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| Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics |
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| News |
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| DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG) |
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| Response to Carlson |
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| Correspondence on “Assessing relatives’ readiness for hereditary cancer cascade genetic testing” by Bednar et al. |
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| Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice |
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| Correction: 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 ( |
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| Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency |
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| Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants |
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| Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders |
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| Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants |
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| The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium |
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| The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation |
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| Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida |
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| Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy |
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| High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study |
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| Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 |
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| Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing |
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| The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care |
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| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior |
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| Taking an antiracist posture in scientific publications in human genetics and genomics |
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| Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders |
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| The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood |
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| Expanding evidence leads to new pharmacogenomics payer coverage |
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| Response to Park et al. |
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| News |
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| In This Issue |
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| Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders |
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| DLG4-related synaptopathy: a new rare brain disorder |
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| Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study |
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| Trainee perspectives of COVID-19 impact on medical genetics education |
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| Call for improvement in medical school training in genetics: results of a national survey |
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| Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases |
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| When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort |
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| Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy |
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| Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care |
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| Outcome of publicly funded nationwide first-tier noninvasive prenatal screening |
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| Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al. |
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| Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders |
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| Evaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants |
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| Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome |
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| GUÍA: a digital platform to facilitate result disclosure in genetic counseling |
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| A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features |
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| Focused Revision: ACMG practice resource: Genetic evaluation of short stature |
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| Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes |
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| Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies |
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| Development and implementation of an electronic medical record module to track genetic testing results |
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| Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth |
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| Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening |
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| Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19 |
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| Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct |
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| Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism |
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| Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders |
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| In This Issue |
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| Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome |
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| CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants |
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| News |
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| Uniparental disomy in a population of 32,067 clinical exome trios |
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| Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation |
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| Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia |
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| Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics |
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| A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy |
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| The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders |
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| Is precision medicine relevant in the age of COVID-19? |
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| Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma |
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| Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes |
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| Newborn bloodspot screening in the time of COVID-19 |
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| Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly |
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| Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants |
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| Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening |
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| Private payer coverage policies for ApoE-e4 genetic testing |
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| Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics |
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| A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management |
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| Response to Biesecker et al. |
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| Does the law require reinterpretation and return of revised genomic results? |
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| Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review |
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| Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay |
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| “It seems like COVID-19 now is the only disease present on Earth”: living with a rare or undiagnosed disease during the COVID-19 pandemic |
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