| In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas |
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| GertJan B. van Ommen 28 September 1947–7 November 2020 |
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| Examining the uptake of predictive BRCA testing in the UK; findings and implications |
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| A human case of GIMAP6 deficiency: a novel primary immune deficiency |
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| Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories |
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| Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades |
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| Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome |
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| SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome |
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| Correction: Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorder |
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| Correction: MobiDetails: online DNA variants interpretation |
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| Atrial fibrillation—a complex polygenetic disease |
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| Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients |
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| Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis |
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| Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population |
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| High-resolution population-specific recombination rates and their effect on phasing and genotype imputation |
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✓ |
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non-Finnish Europeans (NFE) |
| Reflections on dynamic consent in biomedical research: the story so far |
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| Whole-exome sequencing of Finnish patients with vascular cognitive impairment |
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| Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer |
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| Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters |
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| Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| Regarding the estimations of people affected by rare diseases |
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| Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters |
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| Reply to E. Vicente et al. |
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| Long-read trio sequencing of individuals with unsolved intellectual disability |
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| Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases |
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| Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child |
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| Opportunistic genomic screening. Recommendations of the European Society of Human Genetics |
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| Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity |
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| Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants |
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| Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family |
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| The genetics of rod-cone dystrophy in Arab countries: a systematic review |
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| A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype |
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| Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience |
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✓ |
✓ |
Asian pseudodeficiency |
| MobiDetails: online DNA variants interpretation |
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| Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 |
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| Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study |
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| A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease |
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✓ |
✓ |
Asian |
| Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival |
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| Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain |
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✓ |
✓ |
✓ |
Western-European; Europe; European; peninsular Scandinavia; Norway; Sweden; British Isles; Britain; Norse Viking; Vikings |
| Estimation of the number of people with Down syndrome in Europe |
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| An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease |
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| Measuring clinical utility in the context of genetic testing: a scoping review |
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| Dissecting the paternal founders of Mundari (Austroasiatic) speakers associated with the language dispersal in South Asia |
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| The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered |
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| X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers |
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| Regulatory landscape of providing information on newborn screening to parents across Europe |
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| PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism |
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| Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers |
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| Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitis |
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| Pleiotropic genomic variants at 17q21.31 associated with bone mineral density and body fat mass: a bivariate genome-wide association analysis |
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| Secondary research use of personal medical data: attitudes from patient and population surveys in The Netherlands and Germany |
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✓ |
✓ |
Dutch, German (nationalities) |
| Taste perception and lifestyle: insights from phenotype and genome data among Africans and Asians |
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✓ |
|
Africans and Asians |
| NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy |
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| Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1 |
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| Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation |
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| Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach |
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| A powerful new method for rare-variant analysis of quantitative traits in families |
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| Homozygote loss-of-function variants in the human COCH gene underlie hearing loss |
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| An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults |
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| Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson–Fabry disease |
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| Barriers and facilitators for cascade testing in genetic conditions: a systematic review |
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| Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project |
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| What is the meaning of a ‘genomic result’ in the context of pregnancy? |
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| Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach |
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| A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome |
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| Wilms tumor in patients with osteopathia striata with cranial sclerosis |
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| Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS |
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| NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study |
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| Sex-specific genetic effects across biomarkers |
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| Genetic modifiers in rare disorders: the case of fragile X syndrome |
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| Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy |
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| Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort |
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| Cancer surveillance for individuals with Li-Fraumeni syndrome |
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| Reply to Kratz et al. |
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| Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation |
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| Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study |
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✓ |
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|
European study |
| Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications |
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| How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples |
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| Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents |
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| Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes |
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| A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease |
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| Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions |
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| National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies |
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| Rare heterozygous GDF6 variants in patients with renal anomalies |
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| Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma |
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| Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands |
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| Accurate fetal variant calling in the presence of maternal cell contamination |
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| Contributions of de novo variants to systemic lupus erythematosus |
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| Differences in local population history at the finest level: the case of the Estonian population |
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| Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand |
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| COVID-19 and Down’s syndrome: are we heading for a disaster? |
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| Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes |
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| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population |
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|
✓ |
✓ |
✓ |
European country; Italian population; Asian countries |
| Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring |
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| Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) |
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| Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer |
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| Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots |
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| Setting a new standard in cystic fibrosis newborn screening illustrates controversial issues as new data emerge |
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| Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes |
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| Harmful vimentin manifests itself as multiorgan failure |
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| Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing |
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|
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| Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third |
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|
✓ |
✓ |
Caucasus; Bashkirs; Hungarian; haplogroups (R-Z2125, R-Z2123, R-SUR51, R-ARP); Northern Afghanistan; |
| Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders |
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| Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization |
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| Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England |
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| Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency |
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| Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data |
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| EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency |
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| Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation |
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| Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy |
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| Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy |
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| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features |
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| SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome |
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| Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet |
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| Evaluation of CNV detection tools for NGS panel data in genetic diagnostics |
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| Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges |
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| Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome |
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| AAV-mediated FOXG1 gene editing in human Rett primary cells |
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| Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome |
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| Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland |
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| Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? |
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| The effect of sample size on polygenic hazard models for prostate cancer |
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| Is HSPG2 a modifier gene for Marfan syndrome? |
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| Professional duties are now considered legal duties of care within genomic medicine |
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| Inflammasome genetics and complex diseases: a comprehensive review |
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| Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia |
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| The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects |
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| Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria |
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| Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening |
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| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome |
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| National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years |
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| Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group |
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| Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia |
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| The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate |
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| Judging in the genomic era: judges’ genetic knowledge, confidence and need for training |
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| Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes |
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|
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| Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome |
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| Medium-coverage DNA sequencing in the design of the genetic association study |
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| Development and validation of a measure of comprehension of genomic screening—negative results (CoG-NR) |
|
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|
|
| BBMRI-ERIC’s contributions to research and knowledge exchange on COVID-19 |
|
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|
|
| Editorial: Cutting Covid no slack |
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|
| Quality of life drives patients’ preferences for secondary findings from genomic sequencing |
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|
| Future-proofing biobanks’ governance |
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| EMQN best practice guidelines for genetic testing in dystrophinopathies |
|
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|
| Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1 |
|
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|
|
| SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card |
|
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|
|
| Connecting data, tools and people across Europe: ELIXIR’s response to the COVID-19 pandemic |
|
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|
|
| The exhaustive genomic scan approach, with an application to rare-variant association analysis |
|
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| Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome |
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| The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic |
|
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|
|
| Predictive genetic testing in Huntington’s disease: should a neurologist be involved? |
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|
|
| The VODAN IN: support of a FAIR-based infrastructure for COVID-19 |
|
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|
|
| Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide |
|
|
|
|
|
|
✓ |
✓ |
Puerto Rico; Puerto Rican descent; Puerto Rican; Turkish kindreds; consanguineous Turkish kindreds; |
| Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing |
|
|
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|
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| What do we do and how do we do it? Assessing genetic counselling in the modern era |
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| Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary |
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| Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together |
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| Assessing the stability of biobank donor preferences regarding sample use: evidence supporting the value of dynamic consent |
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| Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank |
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| High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot |
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| Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar |
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| The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure |
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| The evolutionarily conserved function of TBR1 in controlling the size of anterior commissure in human and mouse brains |
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| Reply to Hsueh YP et al. |
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| The GDPR, secondary research purposes and global data sharing—one-wheel too many |
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| CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome |
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| CUGC for lysinuric protein intolerance (LPI) |
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| Transcript-specific regulation in T-cells in multiple sclerosis susceptibility |
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| Towards a fine-scale picture of European genetic diversity |
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European genetic diversity |
| A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability |
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| Willingness to donate genomic and other medical data: results from Germany |
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| Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission |
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| First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery |
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Palestinian and Israeli Arabs; Arab communities; German control cohort |
| Gene therapy regulation: could in-body editing fall through the net? |
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| High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors |
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| Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank |
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"European and non-European samples"; "Europeans but not non-European subpopulations"; "ethnic background" |
| Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation |
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| The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance? |
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non-Finnish Europeans |
| Correction: Comparison of methods for transcriptome imputation through application to two common complex diseases |
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| How the “control-fate continuum” helps explain the genetic testing decision-making process: a grounded theory study |
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| Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families |
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| Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations |
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| Correction: The genetic history of France |
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| De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability |
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| Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15 |
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| Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74 |
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| Detection and protection mechanisms against vulnerabilities are needed in blockchain applications |
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| Disruptive and avoidable: GDPR challenges to secondary research uses of data |
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| Inferring the population history of Tai-Kadai-speaking people and southernmost Han Chinese on Hainan Island by genome-wide array genotyping |
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| Reply to Y. Takefuji |
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| An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase |
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| Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects |
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| Reviewer recognition |
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| Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 |
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| Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations |
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| Broad consent in practice: lessons learned from a hospital-based biobank for prospective research on genomic and medical data |
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| A dominant vimentin variant causes a rare syndrome with premature aging |
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| Reply to C.D. Richter |
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| Response to “Continental drift? Do European clinical genetic testing laboratories have a patent problem?” |
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| Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling |
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| Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? |
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| Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation |
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| Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke |
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| Cryptic exon activation causes dystrophinopathy in two Chinese families |
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| The genetic history of France |
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| Recommendations for designing genetic test reports to be understood by patients and non-specialists |
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| Clinical genomic testing: what matters to key stakeholders? |
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| Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study |
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| Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS |
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| De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature |
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| Genotype phasing in pedigrees using whole-genome sequence data |
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| A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4 |
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| Evidence for penetrance in patients without a family history of disease: a systematic review |
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| Transcript specific regulation of expression influences susceptibility to multiple sclerosis |
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| High-resolution inference of genetic relationships among Jewish populations |
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| Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing |
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| Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study |
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| CUGC for syndromic microphthalmia including next-generation sequencing-based approaches |
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| Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions |
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| Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority |
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| TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy |
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✓ |
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CINRG cohort of European ancestry |
| Development and mixed-methods evaluation of an online animation for young people about genome sequencing |
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