Eur J Hum Genet
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
- Exome sequencing points to pathogenic <i>ATM</i> variants in gastric cancer
- A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
- Robert James McKinlay (“Mac”) Gardner
- Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics
- “The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of care
- Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
- Reconsidering a silent variant: <i>SGCA</i>’s role in atypical cardiomyopathy
- Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencing
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between <i>TPMT</i>/<i>NUDT15</i> and thiopurines
- When clinical genetics turns the risk lens on itself
- <i>KIF1A</i>-associated neurological disorders: therapeutic opportunities and challenges
- Identification of an episignature for the <i>MEF2C</i>-associated syndrome
- Concerns about the consequences of cancer predisposition and relationships with quality of life in young adults with Li-Fraumeni syndrome
- Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value
- Systematic review of preferences for additional findings from genomic testing
- Endometriosis – on the intersection of modern environmental pollutants and ancient genetic regulatory variants
- Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community
- Brugada Syndrome: an exemplar for the genomic basis of sudden death
- The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial
- Advancing towards clear and patient-centred language in cancer genetics
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
- Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
- Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
- Expansion of the neurodevelopmental phenotype of individuals with <i>EEF1A2</i> variants and genotype-phenotype study
- The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
- Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
- Thirty-year of genetic counselling education in Europe: a growing professional area
- Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense <i>KANSL1</i> variants and comparison to fibroblast cells
- Ethical and social reflections on the proposed European Health Data Space
- The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
- Expanding the phenotypic spectrum of <i>LIG4</i> pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
- Overcoming barriers to equitable genomic healthcare
- Phenotypic compatibility and specificity in genomic variant classification
- Identification of the DNA methylation signature of Mowat-Wilson syndrome
- Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review
- Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
- Bi-allelic <i>PRRT2</i> variants may predispose to Self-limited Familial Infantile Epilepsy
- 2023 in the European Journal of Human Genetics
- Using exomes better
- Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure
- The value of genomic testing in severe childhood speech disorders
- Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Blood donor biobank as a resource in personalised biomedical genetic research
- Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
- Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
- Confirmation and expansion of the phenotype of the <i>TCEAL1</i>-related neurodevelopmental disorder
- Expanding the phenotype of copy number variations involving <i>NR0B1</i> (<i>DAX1)</i>
- LanDis: the disease landscape explorer
- Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
- Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
- <i>DAG1</i> haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
- Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations
- Managing genetic information sharing at family and population level
- Abstracts from the 56<sup>th</sup> European Society of Human Genetics (ESHG) Conference
- Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
- De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
- Perception of genomic newborn screening among peripartum mothers
- Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
- Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
- Exome sequencing of <i>ATP1A3</i>-negative cases of alternating hemiplegia of childhood reveals <i>SCN2A</i> as a novel causative gene
- Associating <i>CYP2A6</i> structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
- Complex rearrangement in <i>TBC1D4</i> in an individual with diabetes due to severe insulin resistance syndrome
- Correction: <i>CDK13</i>-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
