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Eur J Hum Genet
- Integrated clinical, biochemical, cardiac imaging, and transcriptional changes under MEK inhibition in complicated Noonan syndrome
- Rethinking rare genetic disorders
- Clinical utility and implementation of genomic newborn screening: findings from the SNUseq Baby Project
- Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
- Deep intronic <i>NIPBL</i> variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
- Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
- Maternal perspectives on sharing newborn genomic data
- Maternal perspectives on sharing newborn genomic data
- Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications
- RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
- RNA sequencing significantly improves <i>HYDIN</i> diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
- Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization
- Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization
- Characterisation of a Portuguese origin founder missense variant in <i>MSH6</i>
- Characterisation of a Portuguese origin founder missense variant in <i>MSH6</i>
- Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study
- Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
- Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study
- Parental reactions to and preferences for genomic newborn screening in Germany: findings from a scenario-based survey experiment
- Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy
- Health inequalities in precision medicine: A systematic review
- Healthcare professionals’ views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study
- Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
- Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM)
- Characterising the ‘Genomics Friend’: Experiences of learning genomics in the workplace to inform implementation efforts
- Genomics cycle: discover, diagnose, interpret, act
- Genomics cycle: discover, diagnose, interpret, act
- Insertion or deletion variants in <i>TAF15</i> exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort
- Insertion or deletion variants in <i>TAF15</i> exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework
- Manufactured gametes and the principle of genetic caution
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework
- Manufactured gametes and the principle of genetic caution
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study
- 5q31 duplications encompassing <i>PURA</i> are associated with a neurodevelopmental disorder
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
- Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening
- 5q31 duplications encompassing <i>PURA</i> are associated with a neurodevelopmental disorder
- Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia
- <i>NSMCE2 / MMS21</i> structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease
- The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
- <i>NSMCE2 / MMS21</i> structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease
- The difficulties of developing guidelines for rare disease: where consensus, evidence-based medicine and screening principles conflict
- Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening
- Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
- Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
- Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
- Biallelic <i>RDH11</i> variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series
- Biallelic <i>RDH11</i> variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD
- Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic offer
- Patient views on receiving a pharmacogenetic passport – a mixed methods study exploring experiences and use after an opportunistic offer
- Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
- Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
- Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
- Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
- Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment
- The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
- Professional bodies: how best to promote and support individuals working in human genetics and genomics
- Correction: Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
- Professional bodies: how best to promote and support individuals working in human genetics and genomics
- The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
- Correction: Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder
- Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome
- Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome
- 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
