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| Editorial Board |
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| Table of Contents |
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| Masthead |
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| Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies |
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| De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias |
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| Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty |
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| Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy |
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| Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia |
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| ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures |
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| Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein |
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| Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy |
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| Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent |
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White European populations; Ashkenazi Jewish descent |
| Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia |
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| Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease |
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| Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS) |
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| A test of automated use of electronic health records to aid in diagnosis of genetic disease |
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| “I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing |
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| Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations |
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| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals |
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| Editorial Board |
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| Masthead |
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| Low adenoma burden in unselected patients with a pathogenic APC variant |
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| Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States |
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| The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change |
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| Response to Benn et al |
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| Correspondence on “Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions” by Hoskovec et al |
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| Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM |
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| Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene |
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| Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation |
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| Implementing preconception expanded carrier screening in a universal health care system: A model-based cost-effectiveness analysis |
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| Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort |
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| Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder |
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| What's in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review |
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| Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG) |
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| HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families |
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| Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population |
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| Defining the clinical validity of genes reported to cause pulmonary arterial hypertension |
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| The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning |
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| Provision and availability of genomic medicine services in Level IV neonatal intensive care units |
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| De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias |
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| Table of Contents |
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| Editorial Board |
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| Masthead |
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| Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder |
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| Correspondence on “Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)” by Deignan, et al |
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| Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (AC |
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| ACMG SF v3.2 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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| Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records |
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| Breast cancer risk stratification using genetic and non-genetic risk assessment tools for 246,142 women in the UK Biobank |
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| Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital |
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| Contemplating syndromic autism |
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| Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting |
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| A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia |
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| Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities |
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| Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Providing genetic testing and genetic counseling for Parkinson’s disease to the community |
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| Correspondence on “Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder” by Cuinat et al. |
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| Response to Chunquan Cai et al |
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| Correspondence on “Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Geneti |
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| Masthead |
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| Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants |
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| Response to Prensky and Persson |
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| Editorial Board |
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| Table of Contents |
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| Response to Spurdle et al |
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| Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Gen |
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| Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores |
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| Response to Beretich and Beretich |
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| Correspondence on “The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare” by Vockley et al |
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| Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder |
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| Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer |
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| Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study |
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| Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy |
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| Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment |
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| Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations |
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| Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder |
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| A new neurodevelopmental disorder linked to heterozygous variants in UNC79 |
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| Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing |
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| Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients |
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| Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders |
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| Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders |
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| Performance of prenatal cfDNA screening for sex chromosomes |
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| Validation of lung cancer polygenic risk scores in a high-risk case-control cohort |
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| Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance |
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| A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children |
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| Table of Contents |
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| Editorial Board |
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| Masthead |
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| Development and evaluation of a novel educational program for providers on the use of polygenic risk scores |
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| DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder |
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| Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited |
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| Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT) |
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| Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum |
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| The value of intersectionality for genomic research on human behavior |
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| eyeVarP: A computational framework for the identification of pathogenic variants specific to eye disease |
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| Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use |
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| Barriers to completion of expanded carrier screening in an inner city population |
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| De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy |
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| Dominant-negative variants in CBX1 cause a neurodevelopmental disorder |
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| Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta |
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| Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomic |
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| Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants |
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| The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy |
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| Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent |
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White European populations; Ashkenazi Jewish descent |
| Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia |
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| Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Clinical implications of conflicting variant interpretations in the cancer genetics clinic |
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| De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood |
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| LHX2 haploinsufficiency causes a variable neurodevelopmental disorder |
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| Masthead |
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| Editorial Board |
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| Table of Contents |
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| De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features |
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| Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence |
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| YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse |
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| The 2019 medical genetics workforce: A focus on laboratory geneticists |
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| Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives |
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| Microcosting diagnostic genomic sequencing: A systematic review |
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| Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory |
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| Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study |
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| How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey |
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| The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Masthead |
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| Editorial Board |
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| Table of Contents |
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| Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis |
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| Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories |
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| Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) |
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| The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists |
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| Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia |
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| Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of 4 clinical workflows |
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| Practical considerations for reinterpretation of individual genetic variants |
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| Primary care physician use of patient race and polygenic risk scores in medical decision-making |
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| Table of Contents |
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| Impact of integrated translational research on clinical exome sequencing |
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| Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort |
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| Masthead |
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| Publisher’s Note |
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| Editorial Board |
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| Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome |
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| Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome |
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| Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model |
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| Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia |
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| Insurance denials and diagnostic rates in a pediatric genomic research cohort |
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| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing |
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| Exploring Autistic adults’ perspectives on genetic testing for autism |
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| Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry |
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| The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare |
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| Predictors of genetic risk recall among the participants of a randomized controlled precision prevention trial against melanoma |
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| Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation |
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| Returning integrated genomic risk and clinical recommendations: The eMERGE study |
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| The splicing effect of variants at branchpoint elements in cancer genes |
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| Masthead |
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| Table of Contents |
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| Editorial Board |
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| Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics |
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| The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report |
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| Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project |
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| Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome |
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| Informational needs of individuals from families harboring BRCA pathogenic variants: A systematic review and content analysis |
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| Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes |
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| Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (AC |
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| Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities |
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| Words matter: The language of difference in human genetics |
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| Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021 |
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| FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies |
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| Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) |
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| The PrU: Development and validation of a measure to assess personal utility of genomic results |
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| Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum |
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| Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting |
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| A comparative analysis of RAS variants in patients with disorders of somatic mosaicism |
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| Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review |
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| Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies |
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| Rare disease therapeutics: The future of medical genetics in a changing landscape |
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| OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis |
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| Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas |
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| An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic |
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| Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1 |
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| Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients |
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| Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1 |
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| A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network |
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| Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort |
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| Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions |
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| Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States |
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| Importance of adopting standardized MANE transcripts in clinical reporting |
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| Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? |
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| Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome |
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| Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease |
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| Moving toward more consistency in variant classification and clinical action |
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| Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities |
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| DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency |
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| Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al |
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| “Extremely slow and capricious”: A qualitative exploration of genetic researcher priorities in selecting shared data resources |
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| Response to van Riel et al |
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| Correspondence on “The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review” by Freeman et |
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| Response to Li and Sun |
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| Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome |
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| Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests |
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| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia |
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| Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review |
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| Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study |
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| Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature |
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| Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals |
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| Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants |
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| Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria) |
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| Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians |
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| Damaging variants in FOXI3 cause microtia and craniofacial microsomia |
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| COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis |
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| Standardizing variation: Scaling up clinical genomics in Australia |
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