Genetics in Medicine - 2024

203 articles | Last updated: 2025-12-03 14:12:56

Caucasian

White

European

Other

Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Editorial Board
Masthead
Table of Contents
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders
Correspondence on “Weighty matters: Considering the ethics of genetic risk scores for obesity” by C. Houtz
Masthead
Editorial Board
Table of Contents
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
Table of Contents
Masthead
Editorial Board
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter
A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes
Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank
Ethical, legal, and social issues related to genetics and genomics in cancer: A scoping review and narrative synthesis
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome
Advanced practice providers in the medical genetics workforce: A nationwide survey
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)
Masthead
Editorial Board
Table of Contents
Correspondence on “The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities” by Chung et al
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
Table of Contents
Editorial Board
Masthead
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
Disparities in access to reproductive genetic services associated with geographic location of residence and maternal race and ethnicity
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals
Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
Response to Horta et al
“The truth should not be hidden”: Experiences and recommendations of individuals making NPE discoveries through genetic genealogy databases
Response to Wei et al
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al
Table of Contents
Editorial board
Masthead
The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
Return of genetic research results in 21,532 individuals with autism
Identifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service
Parents’ and patients’ perspectives, experiences, and preferences for germline genetic or genomic testing of children with cancer: A systematic review
Errors in genome sequencing result disclosures: A randomized controlled trial comparing neonatology non-genetics healthcare professionals and genetic counselors
Health-literate care organizations for precision health
Weighty matters: Considering the ethics of genetic risk scores for obesity
Response to Widen et al
Correspondence on “Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)” by Grebe et al
“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs
Masthead
Table of Contents
Editorial board
Analysis of financial barriers experienced by prospective genetic counseling students
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium
Breast cancer after ovarian cancer in BRCA1 and BRCA2 pathogenic variant heterozygotes: Lower rates for 5 years post chemotherapy
Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children
Natural history of adults with KBG syndrome: A physician-reported experience
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological d
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Genomic sequencing research in pediatric cancer care: Decision making, attitudes, and perceived utility among adolescents and young adults and their parents
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group
All of Us participant perspectives on the return of value in research
Health care utilization and behavior changes after workplace genetic testing at a large US health care system
Correspondence on “Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants” by Wermers et al
Response to Kiel and Kozaric
A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death
Editorial Board
Masthead
Table of Contents
Genetic research within Indigenous communities: Engagement opportunities and pathways forward
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing
GM1 gangliosidosis type II: Results of a 10-year prospective study
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Lethal phenotypes in Mendelian disorders
Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER
Addendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG)
Table of Contents
Masthead
Editorial board
Reconciling diversity in health and genomic data collection with the regulation of AI in clinical genomics
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
Results of inaugural international Down Syndrome Societal Services and Supports survey
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Genetics providers’ perspectives on the use of digital tools in clinical practice
The clinical geneticist workforce: Community forums to address challenges and opportunities
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Determining priority indicators of utility for genomic testing in rare disease: A Delphi study
Editorial Board
Masthead
Table of Contents
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
Improving access to exome sequencing in a medically underserved population through the Texome Project
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors
Section E6.1–6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone mar
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
Editorial Board
Masthead
Addendum: Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin
Table of Contents
Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
Gene selection for genomic newborn screening: Moving toward consensus?
Diagnostic delay in monogenic disease: A scoping review
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al
Response to Kulseth
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Correspondence on “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)”
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada
Editorial Board
Table of Contents
Masthead
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Response to Stern
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: A case for discrete results
Characterization of central manifestations in patients with Niemann-Pick disease type C
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
Sequential tumor molecular profiling identifies likely germline variants
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Clinical variants paired with phenotype: A rich resource for brain gene curation
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Ready or not, genomic screening of fetuses is already here
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
The Parent PrU: A measure to assess personal utility of pediatric genomic results
Views of adults living with sickle cell disease on the theoretical return of secondary genomic findings
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer care
Response to Lombardi and Mesnard
Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study
Correspondence on “Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation” by Wu et al
Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome							✓		French-Canadian