| Perception of genomic newborn screening among peripartum mothers |
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| De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India |
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| Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa |
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✓ |
✓ |
mixed ancestry |
| Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene |
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| Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review |
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| Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension |
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| Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome |
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| Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement |
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| Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests? |
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| Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases |
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| Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study |
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| Surveillance of multiple congenital anomalies; searching for new associations |
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| Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome |
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| Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua |
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| Ambivalence and regret in genome sequencing |
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| Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 |
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| Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions |
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| Correction: A framework for evaluating long-term impact of newborn screening |
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| A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing |
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| The molecular landscape of oculocutaneous albinism in India and its therapeutic implications |
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| Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue |
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| Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy |
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| Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples |
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| Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study fr |
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| A comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection |
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| Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report |
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✓ |
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European population; European Reference Networks |
| Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism |
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| Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum |
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| Deep phenotyping and population-level data can help resolve genomic variants |
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| GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal |
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✓ |
✓ |
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Europeans (and "European data") |
| Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum |
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| Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly |
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| Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders |
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| Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia |
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| Parents’ attitudes towards research involving genome sequencing of their healthy children: a qualitative study |
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| Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples |
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| Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature |
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| “I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening |
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| A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome |
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| Genomic medicine in neonatal care: progress and challenges |
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| Ambivalence in genomic healthcare provision, cure or symptom? |
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| Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage |
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| Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant |
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| A framework for evaluating long-term impact of newborn screening |
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| Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project |
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| Expanding what we know about rare genetic diseases |
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| Emerging cancer risks in BRCA2 pathogenic germline variant carriers |
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| ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland |
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| Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients |
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| A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease |
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✓ |
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European ancestry |
| Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome |
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| Goldilocks principle and recessive disease |
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| Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort |
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| Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families |
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| The reuse of genetic information in research and informed consent |
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| The molecular genetics of nELAVL in brain development and disease |
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| A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome |
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| Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly |
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| Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return |
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| Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta |
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| Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa |
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| CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology |
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| Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome |
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| Palliative care and genetics: personalized medicine for the patient and family |
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| Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography |
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| Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics |
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| Importance of critical thinking to understand ChatGPT |
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| Response to correspondence regarding “Analysis of large-language model versus human performance for genetics questions” |
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| Metaplastic breast cancer and BRCA1: first strong evidence of a link |
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| Record-matching of STR profiles with fragmentary genomic SNP data |
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| Why don’t we all use genomic testing? |
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| Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 |
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| A new impact factor for EJHG in 2022 |
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| Consanguinity and willingness to perform premarital genetic screening in Sudan |
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| Genomic testing for rare disease diagnosis—where are we now, and where should we be heading? The reflections of a behavioural scientist |
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| Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients |
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| Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays |
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| Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants |
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| Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18% |
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| Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene |
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| The contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland |
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✓ |
✓ |
Finnish |
| A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy |
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| No need for options for choice for unsolicited findings in informed consent for clinical genetic testing |
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| EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias |
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| At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years |
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| Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives |
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| Persistent thinness and anorexia nervosa differ on a genomic level |
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| Unveiling the hidden: revisiting the potential of old genetic data for rare disease research |
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| From Mendel to multi-omics: shifting paradigms |
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| Can ChatGPT understand genetics? |
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| Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome |
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| The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project |
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| Unusual genomic variants require unusual analyses |
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| MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes |
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| Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG |
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| Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia |
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| Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis |
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| Episignature analysis of moderate effects and mosaics |
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| Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) |
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| Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM) |
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| A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care |
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| BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients |
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| What is health and what do we mean when we say an intervention improves health? |
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| Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience |
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| Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing |
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| Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine |
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| Assessing the general public’s view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages |
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| Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory |
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| The human genome harbours widespread exclusive yin yang haplotypes |
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| Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists |
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| What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases |
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| The complex genomics of single gene disorders |
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| The next step toward personalized recommendations for genetic cardiomyopathies |
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| Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public |
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| Three generation families: Analysis of de novo variants in autism |
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| Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process |
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| Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions |
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|
✓ |
✓ |
Swedish |
| Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al. |
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| The future is mainstream: genetic counselling should be embedded in mainstream medicine |
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| Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome |
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| Analysis of large-language model versus human performance for genetics questions |
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| An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics |
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| Genetic testing in monogenic early-onset atrial fibrillation |
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| Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing |
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| New insights into the molecular basis of spinal neurofibromatosis type 1 |
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| A novel genomic mutation in ADNP leading to intellectual disability |
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| Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy |
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| Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients |
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| Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies |
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| 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review |
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| Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals |
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| Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations |
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| Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss |
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| Molecular explanations for variability of clinical phenotypes |
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| Dopa-responsive dystonia in Bulgarian patients: report of three cases |
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| Abstracts from the 55th European Society of Human Genetics (ESHG) Conference |
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| Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters |
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| Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity |
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| Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters |
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| Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations |
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| Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P) |
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| Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing |
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| Global trends and themes in genetic counseling research |
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| Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome |
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| Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
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| Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia |
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| April, again |
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| Lynch syndrome: influence of additional susceptibility variants on cancer risk |
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| Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses |
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✓ |
✓ |
Israeli Jewish; Dutch; North American |
| Human molecular genetics sheds light on the physiological significance of ribonuclease inhibitor (RNH1) |
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| Correction: Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris |
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| ADNP in reverse gear |
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| Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants |
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| The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome |
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| STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications |
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| The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases |
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| Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI |
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| Biological data studies, scale-up the potential with machine learning |
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| Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles |
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| Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder |
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| The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort |
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| Old and new challenges regarding comparable and viable data sharing in population-scale genomic research |
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| Deciphering the genetic structure of the Quebec founder population using genealogies |
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European colonization; ethnocultural groups; Acadians; Sagueneans; Gaspé and North Shore groups; Quebec founder population |
| Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia |
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| Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis |
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| Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations |
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| Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? |
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| Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield |
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| A fresh cup of DCAF: DCAF13 implicated in a neuromuscular disorder |
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| Immortal data: a qualitative exploration of patients’ understandings of genomic data |
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| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics |
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| A practical checklist for return of results from genomic research in the European context |
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| Genes=disease (?) |
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| Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism |
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| Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021 |
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| Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience |
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| Expanding the phenotype associated with biallelic SLC20A2 variants |
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| Molecular diagnosis of 405 individuals with autism spectrum disorder |
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| Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population |
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| Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening |
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| Equity implications of patient-initiated recontact and follow-up in clinical genetics |
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| A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity |
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| Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores |
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| Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready? |
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| Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia |
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| Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris |
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✓ |
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European-ancestry cohorts |
| Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians |
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Orcadian ancestry; Orcadians; Orcadian grandparents; Westray ancestry; Isle of Westray |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes |
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| Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity |
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| Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization |
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| Loss of function of ADNP by an intragenic inversion |
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| Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium |
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| Rare-variant association analysis reveals known and new age-related hearing loss genes |
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| KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease |
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| Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey |
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| CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories |
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| Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy |
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| Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing |
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| Correction: Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan |
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| SMAD6 variants in nonsyndromic craniosynostosis |
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| A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans |
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| Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies |
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| Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening |
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| Johann Gregor Mendel: the victory of statistics over human imagination |
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| Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe |
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| The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022 |
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| The value of exomes across the ages |
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| Towards UGT1A1 guided irinotecan dosing |
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| 2022: the year that was in the European Journal of Human Genetics |
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| Comparing 2D and 3D representations for face-based genetic syndrome diagnosis |
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| ENROLL-HD for MND? |
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| The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant |
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| Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? |
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| KiT-GENIE, the French genetic biobank of kidney transplantation |
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| GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks |
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| Clinical interest of molecular study in cases of isolated midline craniosynostosis |
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| Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot |
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| A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene |
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| Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 |
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| Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria |
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| The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss |
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| FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women |
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✓ |
✓ |
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controls of European ancestry |
| An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey |
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| Correction: The 2019 and 2021 International workshops on Alport syndrome |
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| Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders |
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| Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells |
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| “I am not a number!” Opinions and preferences of people with intellectual disability about genetic healthcare |
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| Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review |
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| Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia |
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| Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection |
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✓ |
✓ |
Jewish community |
| ParseCNV2: a versatile and integrated tool for copy number variation association studies |
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| New year, new genes |
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| Improving diagnosis of mitochondrial fatty-acid oxidation disorders |
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| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome |
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| Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study |
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| Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome |
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| X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome |
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| CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases |
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| High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations |
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