Genetics in Medicine

Article	Citations
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)	325
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation	264
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 (	219
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)	132
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)	122
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases	120
ACMG SF v3.1 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)	115
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)	115
X-linked diseases: susceptible females	107
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance	91
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics	85
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)	84
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	80
Clinical outcomes of a genomic screening program for actionable genetic conditions	80
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men	79
The implementation of newborn screening for spinal muscular atrophy: the Australian experience	78
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield	78
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants	76
Role of POLE and POLD1 in familial cancer	74
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data	73
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	71
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)	68
Clinical impact of genomic testing in patients with suspected monogenic kidney disease	65
The 2019 US medical genetics workforce: a focus on clinical genetics	65
Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases	64

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care	64
The morbid genome of ciliopathies: an update	63
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)	61
Individuals with Down syndrome hospitalized with COVID-19 have more severe disease	60
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	59
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4	57
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants	57
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review	57
Frequency of genomic secondary findings among 21,915 eMERGE network participants	56
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	56
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq	54
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls	54
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	54
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy	54
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations	54
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)	54
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis	54
A genomics approach to male infertility	54
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation	53
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification	50
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study	49
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources	48
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Varia	47
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease	47
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability	46
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease	46
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort	46
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies	45
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice	45
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project	44
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants	44
COVID-19 outcomes and the human genome	44
Expanding evidence leads to new pharmacogenomics payer coverage	44
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility	44
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome	43
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant ca	43
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency	43
Automated syndrome diagnosis by three-dimensional facial imaging	42
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management	42
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG	42
Is there a duty to reinterpret genetic data? The ethical dimensions	42
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients	41
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects	41
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)	40
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction	40
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma	39
Mobile element insertion detection in 89,874 clinical exomes	39
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines	39
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)	39
Centers for Mendelian Genomics: A decade of facilitating gene discovery	38

Health equity in the implementation of genomics and precision medicine: A public health imperative	38
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	38
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	38
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome	37
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders	37
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review	36
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions	36
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease	36
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma	36
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders	36
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing	36
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach	36
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature	36
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	35
Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening	35
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis	35
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database	35
The genomic and clinical landscape of fetal akinesia	34
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration	34
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies	34
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	34
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes	34
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	34
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy	34
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels	34
Parents’ perceptions of personal utility of exome sequencing results	33
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)	33
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis	33
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders	33
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?	33
Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists	32
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach	32
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology	32
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior	32
Accurate detection of clinically relevant uniparental disomy from exome sequencing data	32
Interpretation of mitochondrial tRNA variants	32
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics	32
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)	31
A six-attribute classification of geneticmosaicism	31
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders	31
Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”	31
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States	31
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing	31
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome	30
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results	30
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments	30
Uniparental disomy in a population of 32,067 clinical exome trios	30
Dopachrome tautomerase variants in patients with oculocutaneous albinism	30
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease	30
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders	30
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range	30
Genotype–phenotype correlations in recessive titinopathies	30
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes	30
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	29
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2	29
Revealing hidden genetic diagnoses in the ocular anterior segment disorders	29
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 (	29
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children	29
Taking an antiracist posture in scientific publications in human genetics and genomics	29
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals	29
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial	29
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses	29
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation	28
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States	28
Functional characterization of 84 PALB2 variants of uncertain significance	28
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis	28
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort	28
A systematic review of monogenic etiologies of nonimmune hydrops fetalis	28
Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing	28
Clustering of comorbid conditions among women who carry an FMR1 premutation	28
Diagnosing hereditary cancer predisposition in men with prostate cancer	28
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care	27
KDM1A inactivation causes hereditary food-dependent Cushing syndrome	27
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns	27
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment	27
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children	27
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	27
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases	27
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer	27
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions	27

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations	26
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer	26
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)	25
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	25
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation	25
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report	25
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA	25
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption	25
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative	25
Polygenic risk scores for prediction of breast cancer risk in Asian populations	25
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots	25
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study	25
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth	25
Assessing relatives’ readiness for hereditary cancer cascade genetic testing	25
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients	24
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids	24
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder	24
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation	24
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity	24
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	24
Participant choices for return of genomic results in the eMERGE Network	24
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies	24
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	24
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	24
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype	24
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome	24
Returning integrated genomic risk and clinical recommendations: The eMERGE study	24
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time	24
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction	23
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots	23
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease	23
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48	23
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants	23
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss	23
Impact of integrated translational research on clinical exome sequencing	23
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)	22
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study	22
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm	22
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history	22
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants	22
The landscape of pharmacogenetic testing in a US managed care population	22
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2	22
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel	21
Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial	21
Application of exome sequencing for prenatal diagnosis: a rapid scoping review	21
Predicting the risk of cardiac myxoma in Carney complex	21
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency	21
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project	21
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance	21
Genome sequencing as a first-line diagnostic test for hospitalized infants	21
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation	21
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies	21
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	21
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice	20
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes	20
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency	20
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy	20
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder	20
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening	20
Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health	20
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1	20
Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and G	19
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals	19
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis	19
Evaluating the impact of in silico predictors on clinical variant classification	19
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study	19
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia	19
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield	19
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review	19
Call for improvement in medical school training in genetics: results of a national survey	19
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder	19
Genetic Determinants of Sudden Unexpected Death in Pediatrics	19
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	19
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size	19
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions	19
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort	18
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory	18
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism	18
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	18
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review	18
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation	18
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7	18
“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	18
A state-based approach to genomics for rare disease and population screening	18
Patient experience of uncertainty in cancer genomics: a systematic review	18
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children	18
GUÍA: a digital platform to facilitate result disclosure in genetic counseling	18
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada	18
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome	18
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes	18
Treatment of ARS deficiencies with specific amino acids	17
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy	17
Improved provider preparedness through an 8-part genetics and genomic education program	17
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves	17
Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers	17