Eur J Hum Genet
- “We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community
- How variant discovery redefines genetic prevalence: the case of cystine stone disease
- Variants in the CxxC domain of the epigenetic regulator <i>KDM2B</i> support its role in developmental eye anomalies
- Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italy
- Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
- Advances in genomic medicine: from diagnosis to patient perspectives
- Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
- Correction: Comprehensive analysis of <i>CNOT3</i>-related neurodevelopmental disorders: phenotypic and genotypic characterization
- Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
- Rare solid tumours as indicators of hereditary cancer syndromes
- Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
- Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells
- Non-coding structural variants disrupting conserved <i>PITX2</i> enhancer loci in Axenfeld–Rieger syndrome
- Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension
- DNA methylation signature and clinical delineation of <i>PACS1</i>-related disorder in 24 unreported individuals
- Comparing the types of haemochromatosis- from genetics to clinics
- From science to service–overcoming clinical implementation barriers to population genomic screening
- Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions
- Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants
- Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee for PGT
- A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia
- Expanding the genetic landscape of Dusty Core Disease: new <i>RYR1</i> variants in Italian patients
- Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results
- Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series
- Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection
- Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes
- Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders
- Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population
- Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in <i>TYR</i>
- Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review
- Introducing whole genome sequencing in newborn screening in Greece: ethical, clinical, and policy considerations in the European context
- HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
- Validation structures for sequence variants of uncertain significance in hereditary cancer
- PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research
- Personalised genomic approaches across the whole journey
- “<i>Where do I go from here?</i>” Navigating a lifelong road without a map: the care experiences of hereditary cancer patients
- From targeted to genome-wide DNA testing in public health screening programs—an introduction to the special issue of the European Journal of Human Genetics
- Correction: Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries
- Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up
- Tumor patterns and cancer risk in carriers of <i>TP53</i> exonic germline variants that alter mRNA splicing
- A prioritization framework for <i>BRCA1/2</i> variants of uncertain significance identified by comprehensive genomic profiling
- Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations
- Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation
- Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators
- A multi-dimensional framework for establishing and managing a genomic newborn screening program
- Black parents’ views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare
- Variant-specific functional effects of <i>CTNNA1</i> in a humanized <i>Drosophila</i> model
- Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review
- Mainstreaming genomic testing for mitochondrial disease in Australia
- Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project
- Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome
- Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
- “It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education
- A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
- Flexible and rapid validation of structural variation using adaptive sampling
- Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
- Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
- <i>TMC6/8</i>-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome
- An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease
- A homozygote mutation in <i>RPA2</i> associated with bone marrow failure, immunodeficiency, and telomere biology disorder
- Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models
- Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
- Impact of a digital platform on genetic counselling encounters in the screening context
- Delineating the Genetic Basis of <i>RNF213</i>-related vasculopathies: The association of <i>PKHD1</i> variants with bilateral cerebral vasculopathy
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review
- Navigating direct-to-consumer genetic testing: experiences, decisions and perspectives of Dutch users
- Two siblings with <i>CCDC32</i>-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
- The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
- Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris
- Advancing genomic medicine: Guidelines, risk scores, and disease discovery
- Results of a multigene panel testing approach targeting patients with suspected genetic predisposition to pancreatic ductal adenocarcinoma
- Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium
- De novo heterozygous variants of the <i>RSF1</i> gene are responsible for a syndromic neurodevelopmental disorder
- Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
- Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution
- The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis
- New year, new insights in genomic medicine
- Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer
- Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats
- Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study
- ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
- Childhood motor speech disorders: who to prioritise for genetic testing
- Innovative solutions to support mothers and fathers after genomic sequencing
- Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between <i>CYP2D6</i> and <i>CYP2C19</i> and tricyclic antidepressants
- Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort
- Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
- Chronological frameworks for Indo-European languages: Insights from linguistics, archaeology and genomics
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
- Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria
- Newly identified <i>ARF3</i> variants strengthen the causal link between Golgi fragmentation and brain malformations
- Clinical implementation of polygenic risk scores
- Promises under pressure: the modest predictive power of polygenic risk scores
- The absolute chronology of the presence of Indo-European/Indic languages in the Indian subcontinent
- Impact of <i>BRCA1/2</i> status on young women’s sexual function, relationships, and reproduction after predictive genetic testing
