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)	342
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation	290
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 (	238
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)	139
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)	136
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)	125
X-linked diseases: susceptible females	111
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance	95
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics	89
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)	88
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders	86
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men	83
Clinical outcomes of a genomic screening program for actionable genetic conditions	83
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data	79
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants	79
Role of POLE and POLD1 in familial cancer	75
Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19	75
The 2019 US medical genetics workforce: a focus on clinical genetics	74
Clinical impact of genomic testing in patients with suspected monogenic kidney disease	73
Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care	68
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)	65
The morbid genome of ciliopathies: an update	65
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants	63
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	62
Individuals with Down syndrome hospitalized with COVID-19 have more severe disease	61

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review	60
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening	60
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls	60
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation	59
Frequency of genomic secondary findings among 21,915 eMERGE network participants	58
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	58
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification	58
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	57
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations	57
A genomics approach to male infertility	57
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)	56
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources	55
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq	55
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy	54
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study	52
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies	50
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease	49
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project	49
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease	47
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	47
Automated syndrome diagnosis by three-dimensional facial imaging	47
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort	47
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants	46
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)	46
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability	46
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility	46
Expanding evidence leads to new pharmacogenomics payer coverage	46
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome	45
Health equity in the implementation of genomics and precision medicine: A public health imperative	45
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	45
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice	45
COVID-19 outcomes and the human genome	44
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes	44
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG	44
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency	44
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes	43
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management	43
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)	42
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)	42
Mobile element insertion detection in 89,874 clinical exomes	42
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects	42
Centers for Mendelian Genomics: A decade of facilitating gene discovery	42
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines	40
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study	40
Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening	40
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	39
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review	39
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	39
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders	39
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels	39

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach	38
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing	38
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma	38
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions	38
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis	38
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome	38
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease	37
A six-attribute classification of geneticmosaicism	37
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)	37
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology	36
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature	36
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration	36
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders	35
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children	35
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States	34
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy	34
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies	34
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?	34
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis	34
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach	34
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals	33
Genotype–phenotype correlations in recessive titinopathies	33
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range	33
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders	33
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	33
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior	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
Uniparental disomy in a population of 32,067 clinical exome trios	32
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments	32
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes	32
Interpretation of mitochondrial tRNA variants	32
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing	32
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders	31
Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”	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	31
Dopachrome tautomerase variants in patients with oculocutaneous albinism	31
Revealing hidden genetic diagnoses in the ocular anterior segment disorders	30
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	30
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2	30
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis	30
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 (	30
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease	30
Taking an antiracist posture in scientific publications in human genetics and genomics	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
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States	30
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses	29
Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing	29
A systematic review of monogenic etiologies of nonimmune hydrops fetalis	29
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer	29
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care	29
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns	29
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation	29
Returning integrated genomic risk and clinical recommendations: The eMERGE study	29
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots	28
Diagnosing hereditary cancer predisposition in men with prostate cancer	28
KDM1A inactivation causes hereditary food-dependent Cushing syndrome	28
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	28
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment	28
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption	28
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions	28
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases	27
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children	27
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	27
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations	27
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer	27
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative	27
Polygenic risk scores for prediction of breast cancer risk in Asian populations	27
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)	27
Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study	27
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids	26
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48	26
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation	26
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies	26
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth	26
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss	26
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity	26
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants	26
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease	25
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation	25
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	25

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time	25
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype	25
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study	25
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA	25
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm	25
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report	25
Impact of integrated translational research on clinical exome sequencing	25
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants	25
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome	24
Participant choices for return of genomic results in the eMERGE Network	24
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots	24
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy	24
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	24
Genome sequencing as a first-line diagnostic test for hospitalized infants	23
The landscape of pharmacogenetic testing in a US managed care population	23
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2	23
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients	23
Predicting the risk of cardiac myxoma in Carney complex	23
Application of exome sequencing for prenatal diagnosis: a rapid scoping review	23
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel	23
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction	23
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies	23
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history	22
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance	22
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation	22
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
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome	22
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency	22
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7	22
Evaluating the impact of in silico predictors on clinical variant classification	22
Genetic Determinants of Sudden Unexpected Death in Pediatrics	21
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes	21
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project	21
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions	21
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice	21
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals	21
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis	21
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder	21
Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial	21
Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health	21
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield	21
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review	21
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening	20
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size	20
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review	20
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1	20
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation	20
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	20
Call for improvement in medical school training in genetics: results of a national survey	20
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study	20
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomi	20
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory	20
Patient experience of uncertainty in cancer genomics: a systematic review	20
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1	20
GUÍA: a digital platform to facilitate result disclosure in genetic counseling	19
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia	19
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care	19
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	19
A state-based approach to genomics for rare disease and population screening	19
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder	19
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals	19
Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis	19
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	19
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes	19
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children	19
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism	19
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	19
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort	19
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy	19
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort	18
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition	18
Is precision medicine relevant in the age of COVID-19?	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
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency	18
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)	18
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada	18
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	18
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management	18
Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic	18
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)	18
Improved provider preparedness through an 8-part genetics and genomic education program	18
Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers	17
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	17
Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use	17
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities	17
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder	17
Treatment of ARS deficiencies with specific amino acids	17
Evaluating variants classified as pathogenic in ClinVar in the DDD Study	17
Disclosure of genetic information to family members: a systematic review of normative documents	17
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases	17
Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases	17
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves	17
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency	17
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria	17
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test	17