| Health professionals contacting patients’ relatives directly about genetic risk (with patient consent): current clinical practice and perspectives |
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| Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models |
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| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas |
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| Use of Estonian Biobank data and participant recall to improve Wilson’s disease management |
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✓ |
✓ |
Estonians; other populations |
| Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent) |
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| CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum |
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| Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss |
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| Further delineation of the SCAF4-associated neurodevelopmental disorder |
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| Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies |
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| Cancer-type somatic mutations in saccular cerebral aneurysms |
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| Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism |
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| Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria |
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| Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patients |
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| Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder |
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| Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders |
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| Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis |
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| Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases |
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| Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening |
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| Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: e-Posters |
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| Abstracts from the 57th European Society of Human Genetics (ESHG) Conference |
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| Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters |
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| Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer |
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| Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches |
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| Correction: SPARCL1 sparkles new insight into corneal dystrophies |
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| Reconstructing the population history of the Nicobarese |
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| Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa |
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| Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder |
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| Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD |
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| Evaluating an approach for communicating integrated risk scores for melanoma |
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| New guidelines for rare cancer syndromes |
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| A decade of public engagement regarding human germline gene editing: a systematic scoping review |
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| Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population |
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✓ |
✓ |
Japanese; Japanese population; Japanese MSA patients |
| Assessing the unmet needs of genomic testing in Australia: a geospatial exploration |
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| Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases |
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| Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project |
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| What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study |
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| Polygenic risk scores in the clinic: a systematic review of stakeholders’ perspectives, attitudes, and experiences |
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| Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions |
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| Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant |
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| WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report |
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| Huntingtin CAG repeat size variations below the Huntington’s disease threshold: associations with depression, anxiety and basal ganglia structure |
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| November in EJHG: looking at genetic counsellor training in Europe, novel clinical guidelines and ancestral impact on variant interpretation |
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| Reply to Van Opstal D. & Faas B.H.W. |
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| Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer |
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| Comment on “Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report” |
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| Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia |
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| Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC) |
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| GenCOLT: a multicenter European biobank for investigating genome-wide determinants of lung transplant outcomes |
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| Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members |
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| “I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project |
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| Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies |
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| Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia |
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| Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population |
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✓ |
✓ |
English and Irish ancestral source populations; people of Irish descent; Basque, French, Portuguese, and Spanish fishermen; English and Irish settle |
| Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing |
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| Y chromosome sequencing data suggest dual paths of haplogroup N1a1 into Finland |
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✓ |
✓ |
ancestry (phrases: "eastern and western ancestry contributions", "autosomal ancestry") and populatio |
| BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations |
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| Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening |
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| Genomic testing in Low- and Middle-Income Countries (LMIC) |
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| Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant |
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| Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland |
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✓ |
✓ |
people of Shetland ancestry; Shetlandic grandparents; Orcadian and Shetlandic origins; Westray, Orkn |
| Epigenomic and phenotypic characterization of DEGCAGS syndrome |
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| ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management |
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| Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract |
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| POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments |
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| Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres |
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| Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome |
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| SPARCL1 sparkles new insight into corneal dystrophies |
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| Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals |
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| Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder |
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| Defining the complex needs of families with rare diseases—the example of telomere biology disorders |
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| Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing |
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| Guiding the future of clinical care and clinical research in Birt-Hogg-Dubé |
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| Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants |
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| Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases |
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| Novel variants in the SOX11 gene: clinical description of seven new patients |
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| Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum |
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| New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort |
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| Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda |
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| Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 |
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| Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations |
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| Genomic technologies identify milder presentations of Mendelian disease |
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| Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process |
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| Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed |
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| Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant |
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| Description and first insights on a large genomic biobank of lung transplantation |
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|
✓ |
|
|
91% pairs composed of donor and recipient of European ancestry. |
| Novel fetal phenotype of TAF8 deficiency |
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|
✓ |
✓ |
Muslim Arab |
| Should the scope of NIPT be limited by a ‘threshold of seriousness’? |
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| Negotiating ‘severity’ in plain sight |
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| Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks |
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|
|
✓ |
✓ |
✓ |
✓ |
European biobanks; Western Hunter-Gatherers, Early European Farmers and Steppe Bronze Age ancestral components |
| Unpacking the notion of “serious” genetic conditions: towards implementation in reproductive decision-making? |
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| Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found |
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| POT1 clinical risk management is an open question |
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| Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance |
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| Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease |
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| Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer |
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| Colorectal cancer risk stratification using a polygenic risk score in symptomatic primary care patients—a UK Biobank retrospective cohort study |
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| Summer reading in EJHG |
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| Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations |
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| ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome |
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| Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients |
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| Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals |
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| Are employees ready to engage in genetic cancer risk assessment in the workplace setting? |
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| Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature |
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| Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe? |
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| Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report |
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| Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants |
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| Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients |
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| In Memoriam: Alberto Piazza (1941–2024) |
|
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|
| Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations |
|
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| Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis |
|
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|
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| Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases |
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| Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project |
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| Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome |
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| Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa |
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| Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes |
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| Primary CoQ10 deficiency: treatable heterogeneous group of disorders |
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| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants |
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| Hitting the heights with CiteScore |
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| Speech and language classification in the human phenotype ontology |
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| GLA insufficiency should not be called Fabry disease |
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| Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study |
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| Severity in the genomic age: the significance of lived experience to understandings of severity |
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| Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases |
|
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|
|
|
|
✓ |
✓ |
Amerindian origin |
| Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX |
|
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|
|
| Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci |
|
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|
|
|
✓ |
|
|
non-Finnish Europeans |
| Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework |
|
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| Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study |
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| Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene |
|
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|
|
| A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria |
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|
| What’s new in EJHG in June 2024? |
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| Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network |
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| POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program |
|
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|
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| Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series |
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| Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis |
|
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| Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant |
|
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|
|
|
|
|
|
| STAC3 disorder: a common cause of congenital hypotonia in Southern African patients |
|
|
|
|
|
|
✓ |
✓ |
Native American, Lumbee Native American tribe, African ancestry, Southern African patients, African/ |
| Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy |
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|
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| Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes |
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| Beyond severity: utility as a criterion for setting the scope of RGCS |
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| Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services |
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| Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa |
|
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|
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| Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation |
|
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|
|
|
| Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature |
|
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|
|
| Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review |
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| Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint |
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| Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) |
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|
|
| Comparison of the ABC and ACMG systems for variant classification |
|
|
|
|
|
✓ |
|
|
mainly European clinical laboratories |
| Germline NPAT inactivating variants as cause of hereditary colorectal cancer |
|
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|
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| Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease |
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| The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients |
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| Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey |
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| Catching the next wave? The relationship between UNESCO and developments in genomics |
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| Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations |
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| Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort |
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| Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders |
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| Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa |
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| Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome |
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| COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction |
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| Novel insights into cancer predisposition genes |
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| Negotiating severity behind the scenes: prenatal testing in Germany |
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| Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals |
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| Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells |
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| The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India |
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✓ |
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European descent; Indian ancestry; East-Asian populations; Asia |
| “Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance |
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| Ethical and social implications of public–private partnerships in the context of genomic/big health data collection |
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| A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis |
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| Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives |
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| Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort |
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| Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements |
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| Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders |
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| Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder |
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| Gene pool preservation across time and space In Mongolian-speaking Oirats |
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| Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options |
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| Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia |
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| Artificial intelligence – the next generation of sequencing? |
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| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs |
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| Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study |
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| De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy |
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| Overcoming barriers to single-cell RNA sequencing adoption in low- and middle-income countries |
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| A framework for the evaluation and reporting of incidental findings in clinical genomic testing |
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| Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation |
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| The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians |
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| Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing |
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| DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism |
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| Evaluation of a two-step model of opportunistic genomic screening |
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| Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria |
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| The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates |
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| A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms |
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| Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis |
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| Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications |
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| Solving medical mysteries with genomics |
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| Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study |
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Danish |
| Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus |
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| Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area |
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| Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability |
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Northern Finland, Finnish, Finnish-enriched variants, population bottleneck |
| A second hotspot for pathogenic exon-skipping variants in CDC45 |
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East Asian ancestry |
| Comment on: “Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype” by Ruiz de Sabando et al. |
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| Optimizing genetic testing strategies for congenital anomalies in Iran |
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| Diagnostic elusiveness of pathogenic variants in cases of autosomal recessive diseases |
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| Rethinking non-syndromic hearing loss and its mimics in the genomic era |
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| EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer |
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| Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype |
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| Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023 |
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| Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice |
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| Upstream open reading frame-introducing variants in patients with primary familial brain calcification |
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| Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome |
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| Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting |
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| Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study |
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| What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability |
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| Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania |
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| Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2 |
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| Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth |
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| The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations |
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| Thirty-years of genetic counselling education in Europe: a growing professional area |
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| Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells |
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| Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway |
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| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study |
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| Ethical and social reflections on the proposed European Health Data Space |
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| The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer |
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| Identification of the DNA methylation signature of Mowat-Wilson syndrome |
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| Phenotypic compatibility and specificity in genomic variant classification |
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| Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct |
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| Overcoming barriers to equitable genomic healthcare |
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| Using exomes better |
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| 2023 in the European Journal of Human Genetics |
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| Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review |
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| Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment |
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| Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy |
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| The value of genomic testing in severe childhood speech disorders |
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| Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure |
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| Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing |
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| A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells |
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| Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report |
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| Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies |
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| Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals |
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| Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature |
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| Exploring the similarity between genetic diseases improves their differential diagnosis and the understanding of their etiology |
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| Identification of a DLG3 stop mutation in the MRX20 family |
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| Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation |
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| Blood donor biobank as a resource in personalised biomedical genetic research |
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✓ |
✓ |
Finnish; Eastern Finland; Finland; Finnish-enriched |
| Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study |
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| Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections |
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| Expanding the phenotype of copy number variations involving NR0B1 (DAX1) |
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| LanDis: the disease landscape explorer |
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| Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder |
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| Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Hybrid Posters |
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| Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters |
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| Managing genetic information sharing at family and population level |
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| Abstracts from the 56th European Society of Human Genetics (ESHG) Conference |
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| Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations |
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✓ |
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✓ |
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White European ancestry |
| Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing |
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| Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile |
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| Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions |
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| DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia |
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| Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus |
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| RICTOR variants are associated with neurodevelopmental disorders |
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| Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood |
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| SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance |
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| Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia |
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