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Eur J Hum Genet
- The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
- Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study
- Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders
- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
- Drawing lines: how the public defines “Serious” genetic conditions for reproductive testing
- Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review
- Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
- Summer highlights from EJHG
- Summer highlights from EJHG
- Confirmation of frameshift variants in the last exon of <i>FGFR1</i> as a cause of multiple epiphyseal dysplasia
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada
- Parental and public views on genomic newborn screening: a systematic review
- Parental and public views on genomic newborn screening: a systematic review
- Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
- Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
- Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
- Characterisation of the <i>SMN1/2</i> locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals
- <i>CMIP</i> as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
- When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening
- Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
- Australian parents’ perspectives on extended genomic screening: what information to return and when?
- Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
- Perspectives on phenotype in genetic testing for early-onset atrial fibrillation
- How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result
- Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
- How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
- Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result
- Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools
- Perspectives on phenotype in genetic testing for early-onset atrial fibrillation
- Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
- Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder
- <i>BRCA1</i> c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications
- Correction: <i>“There’s no representation”</i>: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians
- Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder
- <i>BRCA1</i> c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications
- Correction: <i>“There’s no representation”</i>: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians
- Transcriptome-wide association studies implicate <i>RCC1</i> and <i>PHACTR4</i> in prostate cancer survival
- Transcriptome-wide association studies implicate <i>RCC1</i> and <i>PHACTR4</i> in prostate cancer survival
- Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies
- Residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies
- Reply to: residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies
- Residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies
- Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
- Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
- Hereditary cancer: Germline testing practices across ERN GENTURIS member countries
- Expanding the genomic world: from disease to society
- Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing
- Constitutional methylation of the <i>MLH1</i> promoter: a case series including tumors not typically caused by Lynch Syndrome
- Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients
- Inherited cancer predisposition and reproductive choice: enlightening research insights
- The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review
- Exploring the impact on intrafamilial support systems when newborn screening programmes contact parents with an initial screen positive result
- A matter of switch: how <i>RAC1</i> variants drive distinct disorders
- Multilocus inherited neoplasia alleles syndrome: a retrospective review from a Canadian single institution
- From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshop
- When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project
- Towards responsible genome-wide screening: normative and stakeholder considerations
- Transforming our future by unlocking the power of DNA: the representation of health-related genomic testing in UK news items
- <i>“There’s no representation”:</i> a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records
- Missing … presumed well? Legal and ethical aspects of ‘missed cases’ in genomic newborn screening
- Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care
- Uncovering apparent incomplete penetrance of <i>TSC1</i>/<i>TSC2</i> variants: Insights from multiple population cohorts and implications for newborn screening
- From clinical genetics to genomic-based public health screening programmes: duty-based ethics as a guide for responsible implementation
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references
- Toward consistency in somatic genomic testing
- Follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: Data from the PRED-IdF network
- Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
- Transcription-based identification of uncharacterized genes in the human immune response
- Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
- EMQN Best Practice Guidelines for Genetic Testing and Reporting in <i>RYR1</i>-related disorders
- Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1
- Correction: Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
- Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications
- Coding or non-coding? The question behind sequencing
- Genomic newborn screening: data retention for research and clinical reuse
- Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening
- Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
- Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation
- ‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain
- <i>SLC52A3</i>-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula
- Public perceptions of genetic sequencing in China: barriers and drivers of adoption
- Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases
- Access alone does not define equity in reproductive genetics
- The genetics of the circle of Willis come full circle
- Opportunistic genomic screening of healthy controls in an Australian biobank
- Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study
- Revisiting penetrance in an era of genomic screening
- Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy
- “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
