Genetics in Medicine

Article	Citations
Editorial Board	377
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories	252
Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation	245
Desperately seeking solutions	170
Editorial Board	164
Table of Contents	150
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al	119
Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden	106
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children	91
Masthead	91
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review	88
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	84
The clinical geneticist workforce: Community forums to address challenges and opportunities	82
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder	79
Scoping review and classification of deep learning in medical genetics	79
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	73
Forced resilience: Indigenous perspectives on systemic barriers and humanizing genomic medicine in British Columbia, Canada	72
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries	67
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	64
Correspondence on “Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome” by Valenzuela et al	63
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis	62
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities	61
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time	56
Correspondence on “Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort” by Akter et al	55
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions	53

“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases	52
The PREDICT Study: Medically actionable outcomes and health care utilization of predictive genome sequencing results in a generally healthy adult population	52
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1	50
Masthead	49
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al	48
Challenges for precision public health communication in the era of genomic medicine	47
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities	45
Characterization of central manifestations in patients with Niemann-Pick disease type C	44
Calibrating variant curation by clinical context based on factors that influence patients’ tolerance of uncertainty	43
De novo variants are a common cause of genetic hearing loss	43
Clinical implementation of genetic testing in adults for hereditary hematologic malignancy syndromes	40
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome	40
Genetics providers’ perspectives on the use of digital tools in clinical practice	39
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada	39
Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk	39
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections	38
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia	37
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis	37
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort	37
Exploring Autistic adults’ perspectives on genetic testing for autism	37
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder	36
The splicing effect of variants at branchpoint elements in cancer genes	36
Editorial Board	35
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al	35
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results	35
Response to Kiel and Kozaric	34
Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2	33
Masthead	33
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics	32
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited	32
Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing	32
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs	32
Editorial Board	31
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations	31
Response to Stern	31
Correspondence on “Mainstreaming of clinical genetic testing: a conceptual framework” by Mackley et al	31
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests	31
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome	31
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum	30
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders	30
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder	30
Nonneoplastic causes of death in neurofibromatosis 1: A cohort study with long-term follow-up	30
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders	30
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias	29
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants	28
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1	28
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study	28
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing	28
COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis	28
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study	28

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire	27
Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020	27
The Parent PrU: A measure to assess personal utility of pediatric genomic results	27
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants	27
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes	26
Editorial Board	26
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer	26
Correspondence on “Parents’ perceptions of the utility of genetic testing in the NICU” by Callahan et al	26
Correspondence on “The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare” by Vockley et al	26
Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells	25
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	25
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial	25
Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study	24
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank	24
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta	24
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease	24
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework	24
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients	23
International clinical evidence-based guideline for Kleefstra syndrome	23
High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19	22
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives	22
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort	22
Table of Contents	22
The 2019 medical genetics workforce: A focus on laboratory geneticists	22
Correspondence on “No association between FMR1 premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposes” by Klausner et al	22
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations	22
Table of Contents	21
Masthead	21
Fraud in genetic testing: Swindling the system	21
Correspondence on “Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations” by Pantaleo et al	21
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia	21
Impact of integrated translational research on clinical exome sequencing	21
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning	21
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders	20
Editorial Board	20
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome	20
The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review	20
Response to Saleem et al	20
Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening	20
Masthead	20
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias	20
Recessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure	19
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile	19
Mainstreaming of clinical genetic testing: A conceptual framework	19
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4	19
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II	19
Standardizing variation: Scaling up clinical genomics in Australia	19
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity	19
Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic	19
“Doctors shouldn’t have to cheat the system”: Clinicians’ real-world experiences of the utility of genomic sequencing	19
Table of Contents	18
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer	18
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation G	18
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance	18
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population	18
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel	18
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders	18
Editorial Board	18
Table of Contents	18
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation	18
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases	18
How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey	17
Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics	17
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder	17
Addendum: Preconception and prenatal testing of biologic fathers for carrier status; Carrier screening in individuals of Ashkenazi Jewish descent; Carrier screening for spinal muscular atrophy	17
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study	17
“All doctors should be trained in that”: The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disabili	17
RARE-X: A patient-driven approach for collecting symptom and patient-reported outcome data in rare diseases	17
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG)	16
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder	16
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia	16
Masthead	16
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2	16
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse	16
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort	16
Response to Amalia	16
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome	16
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover	16
Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry	16
Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic	15

Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et	15
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	15
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory	15
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)	15
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome	15
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders	15
A clinical scoring system for early onset (neonatal) Marfan syndrome	15
Masthead	15
Damaging variants in FOXI3 cause microtia and craniofacial microsomia	15
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort	15
Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer	15
Editorial Board	15
Genotype-first assessment of presentation and penetrance of neurofibromatosis type 1, autosomal dominant polycystic kidney disease, and Marfan syndrome within the All of Us research program cohort	15
Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT)	15
Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units	14
The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy	14
Intersectionality in a sociogenomic world: How do race, disability, socioeconomic status, and polygenic prediction interact to affect perceptions of educational trajectories?	14
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses	14
“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs	14
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease	14
Health care utilization and behavior changes after workplace genetic testing at a large US health care system	14
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome	14
Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features	14
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review	14
Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations	14
Sequencing and health data resource of children of African ancestry	14
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis	14
Best Practices in Demographic Data Collection for Equity, Diversity, and Inclusion in Rare Disease Research: A Systematic Review	14
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11	14
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)	13
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	13
What's in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review	13
Table of Contents	13
Factors Influencing Patient Discussion of Genetic Test Results with Healthcare Providers: Insights from a Hospital-Based Population Genetic Screening Program	13
Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank	13
New genotype-phenotype correlations and management recommendations for individuals with RERE variants	13
Insurance denials and diagnostic rates in a pediatric genomic research cohort	13
Table of Contents	13
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: Lower rates for 5 years post chemotherapy	13
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association	13
Editorial Board	13
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation	13
Evaluating perinatal and neonatal outcomes among children with vascular Ehlers–Danlos syndrome	12
Masthead	12
Informational needs of individuals from families harboring BRCA pathogenic variants: A systematic review and content analysis	12
Structured approaches to implementation of clinical genomics: A scoping review	12
Masthead	12
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy	12
Masthead	12
Response to Burgard et al	12
A nationally agreed cross-professional competency framework to facilitate genomic testing	12
Response to Montanaro et al	12
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations	12
Making BRCA1 genetic test reports easier to understand through user-centered design: A randomized trial	12
Predictors of genetic risk recall among the participants of a randomized controlled precision prevention trial against melanoma	12
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants	12
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations	12
Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension	12
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan	12
Analysis of financial barriers experienced by prospective genetic counseling students	12
Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach	11
Patterns of X-linked inheritance: A new approach for the genome era	11
Low adenoma burden in unselected patients with a pathogenic APC variant	11
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort	11
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder	11
Perspectives of United States neonatologists on genetic testing practices	11
The Evidence Aggregator: AI reasoning applied to rare disease diagnostics	11
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases	11
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach	11
Response to Kossmann Ferraz et al	11
Correspondence on “Genome sequencing reveals the impact of pseudoexons in rare genetic disease” by Pitsava et al	11
Response to Spurdle et al	11
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily	11
How Variants of Uncertain Significance Impact Clinical Decisions: A Systematic Review	11
AUTS2-related syndrome: Insights from a large European cohort	11
Correspondence on “ACMG SF v3.3 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)” by	11
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations	11
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes	11
Masthead	11
Implementing interventions to increase genetic testing for breast cancer among high-risk populations: A systematic review of implementation strategies, outcomes, and gaps	11
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics	11
The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones	11
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing	11
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies	11
A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death	11
Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions” by Lavelle et al	10
Genomic sequencing research in pediatric cancer care: Decision making, attitudes, and perceived utility among adolescents and young adults and their parents	10
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis	10
Masthead	10
Correspondence on “A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes” by Seaby et al	10
Masthead	10
Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence	10
Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS stu	10
Response to Mehta et al	10
Challenges in clinical translation of polygenic risk score analyses: A systematic review	10