| Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies |
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| Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy |
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| Research priorities in psychiatric genetic counselling: how to talk to children and adolescents about genetics and psychiatric disorders |
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| Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members |
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| Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease |
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| Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature |
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| Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ |
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| Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? |
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| Gene selection by incorporating genetic networks into case-control association studies |
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| Somatic and germinal mosaicism in a Han Chinese family with laminopathies |
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| Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective |
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| The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review |
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| Pathogenic REST variant causing Jones syndrome and a review of the literature |
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| Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines |
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| Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate |
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| Scientific refutation of ESHG statement on embryo selection |
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| Non-invasive prenatal testing in Germany: a unique ethical and policy landscape |
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| Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program |
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| Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison |
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| Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing |
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| High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations |
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| Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye |
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| Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ |
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| ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes |
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| A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort |
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| LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss |
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| The utility of population level genomic research |
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| Examination of a novel expression-based gene-SNP annotation strategy to identify tissue-specific contributions to heritability in multiple traits |
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| An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history |
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| Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability |
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| Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan |
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| Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard |
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| Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG |
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| Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants |
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| Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research |
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| The role of TBX18 in congenital heart defects in humans not confirmed |
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| The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening |
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| Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye |
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| Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a “Quasi-Incomplete” NF1 phenotype |
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| FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands |
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| Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy |
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| Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors |
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| A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations |
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| Is there a “pandemic effect” on individuals’ willingness to take genetic tests? |
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| Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment |
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| Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing |
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| Correction: Genetic discrimination still casts a large shadow in 2022 |
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| Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9 |
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| Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening |
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| Genetic prediction of male pattern baldness based on large independent datasets |
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✓ |
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European subjects |
| Genome sequencing—do you know what you are getting into? |
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| Clinical management approaches in Bardet–Biedl syndrome |
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| The genetic counsellor role in the United Kingdom |
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| ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies |
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| Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom |
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| Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations |
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| On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event |
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| Somatic genetic variation in healthy tissue and non-cancer diseases |
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| Genome sequencing as a single comprehensive test in molecular diagnosis |
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| A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts |
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| How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review |
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| Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review |
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| Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy |
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| Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke |
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| The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population |
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| Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder |
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| Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns |
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| Early illustrations of the importance of systematic phenotyping |
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| Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012 |
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| Commentary: Von Hippel–Lindau disease: A clinical and scientific review |
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| The European Journal of Human Genetics is turning 30: a selection of major cancer genetics papers published by the Journal |
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| Happy 30th birthday to the European Journal of Human Genetics! |
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✓ |
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European Journal of Human Genetics |
| Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene |
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| Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event |
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| Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia |
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| The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe |
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| Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline |
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| Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact |
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| Research participants: critical friends, agents for change |
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| Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity |
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| A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website |
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| Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank |
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| Assessing the digenic model in rare disorders using population sequencing data |
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| Genetic discrimination still casts a large shadow in 2022 |
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| Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry |
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| The performance of genome sequencing as a first-tier test for neurodevelopmental disorders |
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| Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study |
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| Societal implications of expanded universal carrier screening: a scoping review |
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✓ |
ancestry-based, ethnic stigmatization, at-risk populations |
| Correction: Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project |
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| Exome sequencing for structurally normal fetuses—yields and ethical issues |
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| A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss |
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| Developmental implications of genetic testing for physical indications |
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| Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals |
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| Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process |
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| Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate |
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| Guidelines, guidelines everywhere—and still I’m not sure what to do |
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| Rare autosomal trisomies detected by non-invasive prenatal testing |
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| “Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome |
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| Correction to: Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study |
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| Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity? |
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| Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults |
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| Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review |
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| Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice |
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| Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder |
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| Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study |
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| Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery |
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| Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners |
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| Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing |
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| Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis |
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| KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients |
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| Exome sequencing—one test to rule them all? |
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| The experiences of UK-based genetic counsellors working in mainstream settings |
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| Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence |
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| Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge |
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| Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant |
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| Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study |
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| Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study |
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| Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 |
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| Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome |
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| The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis |
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| School performance of children with neurofibromatosis 1: a nationwide population-based study |
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| Fine mapping and accurate prediction of complex traits using Bayesian Variable Selection models applied to biobank-size data |
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| An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature |
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| COVID-19: a challenge and an opportunity |
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| ‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning |
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| A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele |
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| Clinical genomics testing: mainstreaming and globalising |
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| Host genomics of SARS-CoV-2 infection |
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| A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene |
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| A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome |
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| The genetic and evolutionary determinants of COVID-19 susceptibility |
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| Incidence of Duchenne muscular dystrophy in the modern era; an Australian study |
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| Estimation of the number of inherited prion disease mutation carriers in the UK |
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| Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective |
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| Microsatellite instability in gastrointestinal cancers |
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| Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review |
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| Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias |
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| KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies |
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| Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group |
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| Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians |
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✓ |
|
American Indians |
| Correction to: Estimation of the number of people with Down syndrome in Europe |
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| What’s new in genetics in June 2022? |
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| Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly |
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| Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation |
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✓ |
Chinese |
| Assessing the contribution of genetic nurture to refractive error |
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| Host genetic basis of COVID-19: from methodologies to genes |
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| An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients |
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| Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 |
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| Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly |
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| Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1 |
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| Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor |
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| Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients |
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| “Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant |
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| A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service |
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| Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives |
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| Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? |
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| A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection |
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| Recommendations for whole genome sequencing in diagnostics for rare diseases |
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| Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project |
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| No gene to predict the future? |
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| The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients |
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| Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction |
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| Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank |
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✓ |
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| Returning individual research results in international direct-to-participant genomic research: results from a 31-country study |
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| Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes |
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| Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer |
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| Germline variant in Ctcf links mental retardation to Wilms tumor predisposition |
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| Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments |
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| Correction: Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review |
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| Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study |
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| Predictive genetic testing for Motor neuron disease: time for a guideline? |
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| Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations |
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| Abstracts from the 54th European Society of Human Genetics (ESHG) Conference |
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| Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters |
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| 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing |
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| Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility |
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| No April fools in clinical genomics |
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| The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience |
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| DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes |
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| ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis |
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| Recommendations for reporting results of diagnostic genomic testing |
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| Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia |
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| Coronavirus Host Genetics South Africa (COHG-SA) database—a variant database for gene regions associated with SARS-CoV-2 outcomes |
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| Grandmaternal smoking during pregnancy is associated with differential DNA methylation in peripheral blood of their grandchildren |
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| Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review |
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| Allelic imbalance of HLA-B expression in human lung cells infected with coronavirus and other respiratory viruses |
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| Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability |
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| Gene-lifestyle interactions in the genomics of human complex traits |
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| Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk |
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| Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies |
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| Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium) |
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| Reviewer recognition |
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| Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice |
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| The need for recognition of core professional groups in genetics healthcare services in Europe |
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| Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting |
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| Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data |
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| A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary? |
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| Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study |
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| Good genotype-phenotype relationships in rare disease are hard to find |
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| The 2019 and 2021 International Workshops on Alport Syndrome |
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| Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research |
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| Exploring the ethics of genetic prioritisation for COVID-19 vaccines |
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| Correction to: The stepwise process of integrating a genetic counsellor into primary care |
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| Human mitochondrial RNA modifications associate with tissue-specific changes in gene expression, and are affected by sunlight and UV exposure |
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| A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes |
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| Correction: 2021 at European Journal of Human Genetics: the year in review |
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| Demolishing the silo: towards team-based genomics in primary care |
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| Healthcare professionals’ perceptions of implementing a decision support intervention for cascade screening for beta-thalassemia in Pakistan |
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| Comment on Informing relatives of their genetic risk: an examination of the Belgian context |
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| Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms |
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| Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study |
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✓ |
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Northern European countries |
| Cross-continental admixture in the Kho population from northwest Pakistan |
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| Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease |
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| An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes |
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| Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants |
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| Comment on Future trends in clinical genetic and genomic services by Borle et al. |
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| A new system for variant classification? |
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| Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels |
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| NIPT and the concerns regarding ‘routinisation’ |
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| The case for screening in early life for ‘non-treatable’ disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands |
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| ZNF711 puts a spell on DNA |
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| Good quality practices for artificial intelligence in genetics |
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| Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients |
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| Mosaicism in PTEN—new case and comment on the literature |
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| The stepwise process of integrating a genetic counsellor into primary care |
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| Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents |
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| A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development |
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| Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials |
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| Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant |
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| Variant pathogenic prediction by locus variability: the importance of the current picture of evolution |
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| Understanding the assumptions underlying Mendelian randomization |
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| Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review |
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| Clinical genetics: past, present and future |
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| Index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes |
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| Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants |
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| Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor |
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| Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome |
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| Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method |
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| A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease |
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| Polygenic risk modeling for prediction of epithelial ovarian cancer risk |
|
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|
✓ |
✓ |
✓ |
women of European ancestries; BRCA1 and BRCA2 pathogenic variant carriers of European ancestries; women of East Asian ancestries; women of African ancestries |
| The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community |
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| Novel biallelic variants expand the SLC5A6-related phenotypic spectrum |
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| Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies |
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✓ |
|
|
from four European countries |
| Informing relatives of their genetic risk: an examination of the Belgian legal context |
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| 2021 at European Journal of Human Genetics: the year in review |
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| Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 |
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| Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first |
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| Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update |
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| A tool for translating polygenic scores onto the absolute scale using summary statistics |
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| The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes |
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| Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study |
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| Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations |
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