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Eur J Hum Genet
- Appreciating diversity: a review of the Iranian genomic landscape
- Appreciating diversity: a review of the Iranian genomic landscape
- Editorial on the hereditary cancer special issue
- Editorial on the hereditary cancer special issue
- Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
- Prevalence of <i>BRCA1/2</i> variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
- Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa
- Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa
- Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences
- Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder
- Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal
- Missed cases or unreported signals? Genomic newborn screening and the architecture of what counts
- Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal
- Missed cases or unreported signals? Genomic newborn screening and the architecture of what counts
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of <i>CHD8</i> missense variants
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of <i>CHD8</i> missense variants
- Rapid genomic sequencing in the NICU: Who to test and why
- Rapid genomic sequencing in the NICU: Who to test and why
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
- Patients’ and parents’ views on how digital tools enable personalized and partnered care in genetics: a qualitative study
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
- Patients’ and parents’ views on how digital tools enable personalized and partnered care in genetics: a qualitative study
- The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information
- To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence
- Re: Clinical implementation of polygenic risk scores — equity metrics are needed before clinical translation
- Clinical implementation of polygenic risk scores—updates on ancestry-adjusted PRS and their use in practice
- Re: Clinical implementation of polygenic risk scores — equity metrics are needed before clinical translation
- Clinical implementation of polygenic risk scores—updates on ancestry-adjusted PRS and their use in practice
- The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information
- To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence
- <i>BRCA1</i> and <i>BRCA2</i> population screening in Latvia: feasibility, engagement, and early lessons from a pilot study
- Beyond the sequence
- <i>BRCA1</i> and <i>BRCA2</i> population screening in Latvia: feasibility, engagement, and early lessons from a pilot study
- Beyond the sequence
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004–2024)
- <i>PALM3</i> and hearing loss: a potential dual diagnosis interfering with novel gene discovery
- Characterizing <i>ARID1B</i>-related disorders and variants of uncertain significance using DNA methylation
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004–2024)
- <i>PALM3</i> and hearing loss: a potential dual diagnosis interfering with novel gene discovery
- Bridging the gap: integrating hereditary cancer into precision oncology
- Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report
- Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases
- Further characterization of the <i>BRSK2</i>-associated neurodevelopmental disorder
- Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study
- Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
- Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening
- Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate
- Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
- Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy
- Strømme syndrome: the clinical and molecular spectrum associated with variants in <i>CENPF</i>
- Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy
- Strømme syndrome: the clinical and molecular spectrum associated with variants in <i>CENPF</i>
- Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland
- A thick opt-out for genomic newborn screening, retention, and reuse of genomic data
- A thick opt-out for genomic newborn screening, retention, and reuse of genomic data
- ERN GENTURIS cancer surveillance guideline for individuals with <i>PTEN</i> hamartoma tumour syndrome (PHTS)
- ERN GENTURIS cancer surveillance guideline for individuals with <i>PTEN</i> hamartoma tumour syndrome (PHTS)
- Correction: Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result
- Correction: Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result
- Unveiling ocular developmental disorders through short-read whole-genome sequencing
- Unveiling ocular developmental disorders through short-read whole-genome sequencing
- Family-oriented support in genetic counselling: a scoping review of clinical practice and psychotherapeutic interventions
- Family-oriented support in genetic counselling: a scoping review of clinical practice and psychotherapeutic interventions
- The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
- 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
- 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
