| Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas |
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| SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes |
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✓ |
|
|
European populations |
| Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant |
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| Dwarna: a blockchain solution for dynamic consent in biobanking |
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| Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans |
|
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✓ |
|
African Americans |
| Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease |
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| The paternal and maternal genetic history of Vietnamese populations |
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| Exome sequencing in infants with congenital hearing impairment: a population-based cohort study |
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| Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome |
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| Novel clinical and genetic insight into CXorf56-associated intellectual disability |
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| “Patient Journeys”: improving care by patient involvement |
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| A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder |
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| Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation |
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| Primary care provider perspectives on using genomic sequencing in the care of healthy children |
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| Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data |
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| A bird’s-eye view of Italian genomic variation through whole-genome sequencing |
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✓ |
✓ |
Italian; Tuscans; Italian peninsula; Italian population; cohorts |
| The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate |
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| Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype |
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| Update of a classic |
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| New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells |
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| Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom |
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| Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines |
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| Ultralow amounts of DNA from long-term archived serum samples produce quality genotypes |
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| A multimodal attempt to follow-up linkage regions using RNA expression, SNPs and CpG methylation in schizophrenia and bipolar disorder kindreds |
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| A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL |
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| Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis |
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| Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients |
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| Genetic correlations between pain phenotypes and depression and neuroticism |
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| Including hope in the treatment scheme—paradigms in the management of patients with cerebral palsy |
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| Overgrowth—a clinical review not only for geneticists |
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| Knowledge and views about genetics: a public-based cross-sectional study |
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| PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture |
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| A characterization of cis- and trans-heritability of RNA-Seq-based gene expression |
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| Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals |
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| Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia |
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| Correction to: The Dutch Y-chromosomal landscape |
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| The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material |
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| Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters |
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| Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters |
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| Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| ESHG PPPC Comments on postmortem use of genetic data for research purposes |
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| Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease |
|
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|
✓ |
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|
European populations |
| Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster |
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| Effect of non-normality and low count variants on cross-phenotype association tests in GWAS |
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| Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families |
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| GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? |
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| A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis |
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| Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis |
|
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| One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants |
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| Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population |
|
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|
|
✓ |
✓ |
East Asian population; Japanese population; Japanese cohort |
| Severe neurodevelopmental disease caused by a homozygous TLK2 variant |
|
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|
| Robin D Clark & Cynthia J Curry: Genetic Consultations in the Newborn |
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| Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls |
|
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|
|
✓ |
✓ |
ethnically matched normal hearing adult controls; ethnically matched MAF filtering |
| Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders |
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| The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy |
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| Rethinking the ethical principles of genomic medicine services |
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| MNS1 variant associated with situs inversus and male infertility |
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| What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care? |
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| Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene |
|
|
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|
✓ |
|
different ethnicities |
| Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant |
|
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| Distributed Ledger Technology in genomics: a call for Europe |
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| Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice |
|
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| Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database |
|
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| Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy |
|
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| Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review |
|
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| Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population |
|
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|
|
| KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia |
|
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|
|
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|
|
| The Dutch Y-chromosomal landscape |
|
|
|
|
|
|
✓ |
✓ |
Dutch population; Netherlands; northern Belgium |
| CUGC for Stromme syndrome and CENPF-related disorders |
|
|
|
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|
|
|
|
|
| GWAS of five gynecologic diseases and cross-trait analysis in Japanese |
|
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|
|
| Sketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics |
|
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|
|
| Copy number variants in lipid metabolism genes are associated with gallstones disease in men |
|
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|
| Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients |
|
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|
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|
|
| School level of children carrying a HNF1B variant or a deletion |
|
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|
|
| Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities |
|
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|
|
| APC transcription studies and molecular diagnosis of familial adenomatous polyposis |
|
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|
|
| Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea |
|
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|
|
| Current management of transition of young people affected by rare renal conditions in the ERKNet |
|
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|
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|
|
| Heritability of human visual contour integration—an integrated genomic study |
|
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|
| Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study |
|
|
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|
|
| High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR |
|
|
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|
|
|
|
|
|
| Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants |
|
|
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|
|
| Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing |
|
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|
|
| Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe |
|
|
|
|
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|
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|
|
| De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation |
|
|
|
|
|
|
|
|
|
| Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences |
|
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|
|
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|
| Anophthalmia including next-generation sequencing-based approaches |
|
|
|
|
|
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|
|
| Assessment of genetic variant burden in epilepsy-associated brain lesions |
|
|
|
|
|
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|
|
| Germline genome editing: public dialogue is urgent but not self-evident |
|
|
|
|
|
|
|
|
|
| Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) |
|
|
|
|
|
|
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|
|
| Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes |
|
|
|
|
|
|
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|
|
| Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR |
|
|
|
|
|
|
|
|
|
| Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings |
|
|
|
|
|
|
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|
|
| A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis |
|
|
|
|
|
|
|
|
|
| Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects |
|
|
|
|
|
|
|
|
|
| Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees |
|
|
|
|
|
|
|
|
|
| Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems: results of a survey in over 50 countries |
|
|
|
|
|
|
|
|
|
| Genetic discrimination by Australian insurance companies: a survey of consumer experiences |
|
|
|
|
|
|
|
|
|
| Clinical utility gene card: for incontinentia pigmenti |
|
|
|
|
|
|
|
|
|
| A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients |
|
|
|
|
|
|
|
|
|
| Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia |
|
|
|
|
|
|
|
|
|
| De novo substitutions of TRPM3 cause intellectual disability and epilepsy |
|
|
|
|
|
|
|
|
|
| Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs |
|
|
|
|
✓ |
|
✓ |
|
European populations; Mediterranean, SW Asian populations |
| Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group |
|
|
|
|
|
|
|
|
|
| Abstracts from the 2018 European Meeting on Psychosocial Aspects of Genetics |
|
|
|
|
|
|
|
|
|
| Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters |
|
|
|
|
|
|
|
|
|
| Abstracts from the 51st European Society of Human Genetics Conference: Posters |
|
|
|
|
|
|
|
|
|
| Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations |
|
|
|
|
|
|
|
|
|
| Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) |
|
|
|
|
|
|
|
|
|
| Reply to DM Hougaard et al. |
|
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|
|
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|
|
| Response to “Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation” |
|
|
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|
|
|
|
|
| Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing |
|
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|
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|
|
| The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide |
|
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|
|
|
|
|
|
| Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation |
|
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|
|
|
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|
|
| Sex specific associations in genome wide association analysis of renal cell carcinoma |
|
|
|
|
|
|
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|
|
| Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study |
|
|
|
|
|
|
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|
|
| European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death |
|
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|
|
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|
|
| After the fact—the case of CRISPR babies |
|
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|
|
|
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|
|
| Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes |
|
|
|
|
|
|
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|
|
| Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing |
|
|
|
|
|
|
|
|
|
| Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar |
|
|
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|
|
|
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|
|
| Global, pathway and gene coverage of three Illumina arrays with respect to inflammatory and immune-related pathways |
|
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|
|
| A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care |
|
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|
| The nurturing of nature |
|
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|
|
| De novo variants in CNOT3 cause a variable neurodevelopmental disorder |
|
|
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|
|
|
|
|
|
| CUGC for posterior polymorphous corneal dystrophy (PPCD) |
|
|
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|
|
| Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor |
|
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|
|
| Challenges and strategies proposed by genetic health professionals to assist with family communication |
|
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|
|
| Searching for secondary findings: considering actionability and preserving the right not to know |
|
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|
|
| A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016 |
|
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|
|
| APOB gene polymorphisms may affect the risk of minor or minimal bleeding complications in patients on warfarin maintaining therapeutic INR |
|
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|
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|
|
| Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey |
|
|
|
|
|
|
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|
|
| DEGS1 variant causes neurological disorder |
|
|
|
|
|
|
|
|
|
| Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease |
|
|
|
|
|
|
|
|
|
| A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat |
|
|
|
|
|
|
|
|
|
| Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs |
|
|
|
|
|
|
|
|
|
| Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder |
|
|
|
|
|
|
|
|
|
| Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care |
|
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|
|
|
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|
|
| Attitudes of blood donors to their sample and data donation for biobanking |
|
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|
|
|
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|
|
|
| The destructive role of Trofim Lysenko in Russian Science |
|
|
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|
|
|
|
|
|
| Implementation of public health genomics in Pakistan |
|
|
|
|
|
|
|
|
|
| Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia |
|
|
|
|
|
|
|
|
|
| Bone Dysplasia: a must-have Atlas for the clinician |
|
|
|
|
|
|
|
|
|
| Population genetic screening: current issues in a European country |
|
|
|
|
|
|
|
|
|
| Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees |
|
|
|
|
|
|
|
|
|
| Truncation of TGF-β docking receptor GARP is linked to human disease |
|
|
|
|
|
|
|
|
|
| Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing |
|
|
|
|
|
|
|
|
|
| Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry |
|
|
|
|
|
|
✓ |
|
by ancestry |
| A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome |
|
|
|
|
|
|
|
|
|
| gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study |
|
|
|
|
|
|
|
|
|
| Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression |
|
|
|
|
|
|
|
|
|
| Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions |
|
|
|
|
|
|
|
|
|
| Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors |
|
|
|
|
|
|
|
|
|
| Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome |
|
|
|
|
|
|
|
|
|
| Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases |
|
|
|
|
|
|
|
|
|
| Trends in BRCA testing and socioeconomic deprivation |
|
|
|
|
|
|
|
|
|
| Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts |
|
|
|
|
|
|
|
|
|
| Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin |
|
|
|
|
|
|
|
|
|
| Abstracts from the 50th European Society of Human Genetics Conference: 7th International Workshop on the History of Human Genetics |
|
|
|
|
|
|
|
|
|
| Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests |
|
|
|
|
|
|
|
|
|
| The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks |
|
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| LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 |
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| Variants in DOCK3 cause developmental delay and hypotonia |
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| A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI) |
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| Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy |
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| Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders |
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✓ |
✓ |
Danish population-based |
| Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay |
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| Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia |
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✓ |
✓ |
✓ |
✓ |
"the only European Mongol people" (title); "the only Mongolic-speaking population in Europe"; "in th; Uses ethnic/population terms such as "Mongolic-speaking", "Oirat-Mongols", "Kalmyks", "Oirats", "Bur |
| Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes |
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| Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey |
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| Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer |
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| Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively |
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| Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene |
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| The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients |
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| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females |
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| Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta |
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| Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries |
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| Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark |
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| Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population |
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Finnish population |
| Mitochondrial DNA variability of the Polish population |
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| Perceptions of genetic variant reclassification in patients with inherited cardiac disease |
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| Haploinsufficiency of ARHGAP42 is associated with hypertension |
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| Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients |
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| DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients |
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| Precision medicine for a man presented with diabetes at 2-month old |
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| A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice |
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| De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes |
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| Reviewer recognition |
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| Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma |
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✓ |
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Hungarian Roma |
| Deletions and loss-of-function variants in TP63 associated with orofacial clefting |
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| Continental drift? Do European clinical genetic testing laboratories have a patent problem? |
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| Development of patient “profiles” to tailor counseling for incidental genomic sequencing results |
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| A pathway-driven predictive model of tramadol pharmacogenetics |
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| Educational delay and attainment in persons with neurofibromatosis 1 in Denmark |
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| Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene |
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| Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature |
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| Characteristics and quality of genetics and genomics mobile apps: a systematic review |
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| SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections |
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| Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy |
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| A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway |
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| Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment |
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| A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care |
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| De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment |
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| People from Ibiza: an unexpected isolate in the Western Mediterranean |
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| Using dried blood spot samples from a trio for linked-read whole-exome sequencing |
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| Biological insights into multiple birth: genetic findings from UK Biobank |
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| Expanded reproductive carrier screening—how can we do the most good and cause the least harm? |
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| A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy |
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| Feasibility of couple-based expanded carrier screening offered by general practitioners |
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| Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU |
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| Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays |
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| Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals |
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| Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export |
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| SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome |
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| Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes |
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| Autonomous decision-making for antenatal screening in Pakistan: views held by women, men and health professionals in a low–middle income country |
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| Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes |
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| Motivations for data sharing—views of research participants from four European countries: A DIRECT study |
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| Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors |
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| Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) |
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| Comparison of methods for multivariate gene-based association tests for complex diseases using common variants |
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| Delivering effective genetic services for patients and families affected by cleft lip and/or palate |
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| Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data |
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| CUGC for Simpson-Golabi-Behmel syndrome (SGBS) |
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| Patient views on research use of clinical data without consent: Legal, but also acceptable? |
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| ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis |
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| A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale |
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| The Marquesans at the fringes of the Austronesian expansion |
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| Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity |
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| De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms |
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| Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits |
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| Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries |
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| Genetics of the patella |
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| Australians’ views and experience of personal genomic testing: survey findings from the Genioz study |
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| Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures |
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| Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population |
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| Enriched power of disease-concordant twin-case-only design in detecting interactions in genome-wide association studies |
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| Reply to Bombard and Mighton |
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| Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder |
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| A genetic perspective on Longobard-Era migrations |
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| Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach |
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| Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia |
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| Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program |
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| Towards establishing consistency in triage in a tertiary specialty |
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| Duplication of 10q24 locus: broadening the clinical and radiological spectrum |
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| Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies |
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| Return of individual genomic research results: are laws and policies keeping step? |
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| Genetic architecture of laterality defects revealed by whole exome sequencing |
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| An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia |
|
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✓ |
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Amish |