| Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic? |
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| Recontacting clinical genetics patients with reclassified results: equity and policy challenges |
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| Diaspora, migration, and the sciences: a new integrated perspective |
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| Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia |
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| A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome |
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| Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease |
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| A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees |
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| Communication about genetic testing with breast and ovarian cancer patients: a scoping review |
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| Skewed X-inactivation is common in the general female population |
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| A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing |
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| The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study |
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| Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants |
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| De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies |
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| The role of matrilineality in shaping patterns of Y chromosome and mtDNA sequence variation in southwestern Angola |
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| A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts |
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✓ |
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Swedish cohorts |
| Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools |
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| Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants |
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| Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile |
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| Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records |
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| Comparative perspectives: regulating insurer use of genetic information |
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| Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture |
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| Back to the drawing board—loss of chromosome Y (LOY) in leukocytes is associated with age-related macular degeneration |
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| A stroke gene panel for whole-exome sequencing |
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| Genetic Counselling for the Laboratory: building bridges between disciplines |
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| TBL1Y: a new gene involved in syndromic hearing loss |
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| The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design |
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| Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile |
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| Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay |
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| Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics |
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| The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility |
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| Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake |
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| Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware |
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| Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability |
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| 1 in 38 individuals at risk of a dominant medically actionable disease |
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| A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1 |
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| The Global State of the Genetic Counseling Profession |
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| Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents |
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| Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation |
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| Abstracts from the 50th European Society of Human Genetics Conference: Program |
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| Abstracts from the 50th European Society of Human Genetics Conference: Oral Presentations |
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| Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples |
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| European guidelines for constitutional cytogenomic analysis |
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European guidelines for constitutional cytogenomic analysis |
| Abstracts from the 50th European Society of Human Genetics Conference: Posters |
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| Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters |
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| Patients v. Myriad or the GDPR Access Right v. the EU Database Right |
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| Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency |
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| Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 |
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| Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression |
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| The recognition of the profession of Genetic Counsellors in Europe |
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| Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology |
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| Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders |
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| Fetal fraction evaluation in non-invasive prenatal screening (NIPS) |
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| A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score |
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| Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation |
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| Centenarian controls increase variant effect sizes by an average twofold in an extreme case–extreme control analysis of Alzheimer’s disease |
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| Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype |
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| Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers |
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| Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci |
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| Genetic testing for DADA2: How can we avoid missing patients? |
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| MultiWaver 2.0: modeling discrete and continuous gene flow to reconstruct complex population admixtures |
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| Reply to Sönmez et al. |
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| Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent |
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| Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review |
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| A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21 |
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| Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits |
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| Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models |
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| Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly |
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| Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss |
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| A fascinating overview of the biology of fragile X syndrome |
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| Y chromosome mosaicism is associated with age-related macular degeneration |
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| Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms |
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| Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches |
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| The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests |
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| Genetics of hearing loss in the Arab population of Northern Israel |
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| DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis |
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| Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers |
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| New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome |
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| Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1 |
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| A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure |
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| Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants |
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| On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatment |
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| A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency |
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| Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis |
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✓ |
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European populations |
| Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations |
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| Current practices for access, compensation, and prioritization in biobanks. Results from an interview study |
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| Application of the parametric bootstrap for gene-set analysis of gene–environment interactions |
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| Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment |
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| Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card |
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| CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63 |
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| Sequence diversity of the Rh blood group system in Basques |
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| Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis |
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| Functional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness |
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| Association of modifiers and other genetic factors explain Marfan syndrome clinical variability |
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| An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease |
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| Registered access: authorizing data access |
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| Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia |
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| Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants |
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| Before progressing from “exomes” to “genomes”… don’t forget splicing variants |
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| Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences |
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| Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy |
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| Molecular genetic overlap between migraine and major depressive disorder |
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| Inferring biogeographic ancestry with compound markers of slow and fast evolving polymorphisms |
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| Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? |
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| Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia |
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| Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate |
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| Multi-level genomic analyses suggest new genetic variants involved in human memory |
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| Comparison of methods for transcriptome imputation through application to two common complex diseases |
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| Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity |
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| Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency |
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| Pharmacogenomics, a novel section in the European Journal of Human Genetics |
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| De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 |
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| A fine-mapping study of central obesity loci incorporating functional annotation and imputation |
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| Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes |
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| Whole-exome sequencing in intellectual disability; cost before and after a diagnosis |
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| Primary brain calcification: an international study reporting novel variants and associated phenotypes |
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| Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis |
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| Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases |
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| De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function |
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| A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course |
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| SET de novo frameshift variants associated with developmental delay and intellectual disabilities |
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| Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea |
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| Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome |
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| Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs |
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| Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes |
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| A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome |
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| Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling |
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| Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study |
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| Careful what you say |
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| Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) |
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| Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature |
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| A theory-informed systematic review of clinicians’ genetic testing practices |
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| Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation |
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| Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? |
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| A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication |
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| Trans-eQTLs identified in whole blood have limited influence on complex disease biology |
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| Nephronectin (NPNT) and the prediction of nephrotic syndrome response to steroid treatment |
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| Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome |
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| Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses |
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| How are genetic test results being used by Australian life insurers? |
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| Genetically driven adiposity traits increase the risk of coronary artery disease independent of blood pressure, dyslipidaemia, glycaemic traits |
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| The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports |
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| Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease |
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| Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment |
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| Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database |
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| Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al. |
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| More than an information service: are counselling skills needed by genetics professionals in the genomic era? |
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| Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype |
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| A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder |
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| Economic evaluation of genomic sequencing in the paediatric population: a critical review |
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| The FAIR guiding principles for data stewardship: fair enough? |
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| CUGC for congenital primary aphakia |
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| Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer |
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| Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers |
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| Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers |
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| Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings |
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| Evidence that UBASH3 is a causal gene for type 1 diabetes |
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| Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes |
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| A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy |
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| Circulating microRNAs disclose biology of normal cognitive function in healthy elderly people – a discovery twin study |
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| Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection |
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| The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results |
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| Comprehensive genomic analysis of patients with disorders of cerebral cortical development |
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| Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma |
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| Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice |
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| Effects of autozygosity and schizophrenia polygenic risk on cognitive and brain developmental trajectories |
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| Using a genetic test result in the care of family members: how does the duty of confidentiality apply? |
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| Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease) |
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| Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis |
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| Australians’ views on personal genomic testing: focus group findings from the Genioz study |
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| A pathogenic role for germline PTEN variants which accumulate into the nucleus |
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| Are your covariates under control? How normalization can re-introduce covariate effects |
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| Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature |
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| Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q |
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| Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis |
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| Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma |
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| Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 |
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| Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients |
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| Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population |
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| RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing |
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| Genes flow by the channels of culture: the genetic imprint of matrilocality in Ngazidja, Comoros Islands |
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| Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles |
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| Circulating cell-free nucleic acids: characteristics and applications |
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| Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe |
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| Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation |
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| A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience |
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| Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma |
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| Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history |
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| Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility |
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| Re-assessment of multiple testing strategies for more efficient genome-wide association studies |
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| Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice |
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| JBS Haldane: an evolutionary geneticist not without controversy |
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| Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy |
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| Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes |
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| Genetic diseases and information to relatives: practical and ethical issues for professionals after introduction of a legal framework in France |
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| RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases |
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| Clinical utility gene card: for pseudoxanthoma elasticum |
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| The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position? |
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| New insights from Thailand into the maternal genetic history of Mainland Southeast Asia |
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| Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population |
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| γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1 |
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| Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance |
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| Novel variants in Nordic patients referred for genetic testing of telomere-related disorders |
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| Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing |
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| Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature |
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| A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study |
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| Genetics of dementia in a Finnish cohort |
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| A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia |
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| Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 |
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| Clinical Utility Gene Card for: Becker muscular dystrophy |
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| A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder |
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| A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study |
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| ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree |
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✓ |
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Turkish |
| Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing |
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| Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders |
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| Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome |
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| Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment |
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| Reply to Brioude et al |
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| Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability |
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| Incidental inequity |
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| Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply |
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| Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion |
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| Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease |
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| Improved estimation of SNP heritability using Bayesian multiple-phenotype models |
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| Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study |
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| Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics |
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| How is genetic testing evaluated? A systematic review of the literature |
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| Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome |
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| Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study |
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| Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage |
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| Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes |
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| Fanconi anemia: from DNA repair to metabolism |
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| The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers |
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| A clinical and molecular characterisation of CRB1-associated maculopathy |
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| Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents |
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| Psychosocial impact on mothers receiving expanded newborn screening results |
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| Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus |
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| Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan |
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| CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability |
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| Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia |
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| Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? |
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| Clinical utility gene card for McArdle disease |
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| Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients |
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| Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy |
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| Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study |
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| Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy |
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| Congenital diaphragmatic hernia as a part of Nance–Horan syndrome? |
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| Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants |
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| Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome |
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| Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects |
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| Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan |
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| Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy |
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| Genetic variant in CACNA1C is associated with PTSD in traumatized police officers |
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| Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome |
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| Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors |
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| Effect of deliberation on the public’s attitudes toward consent policies for biobank research |
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| Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort |
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| Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias |
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| Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency |
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| Biallelic variants in KIF14 cause intellectual disability with microcephaly |
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| Human germline gene editing: Recommendations of ESHG and ESHRE |
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✓ |
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European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Gene |
| Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE |
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| Perceptions of legislation relating to the sharing of genomic biobank results with donors—a survey of BBMRI-ERIC biobanks |
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| Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000–2013 |
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| De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity |
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| SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester |
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| Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome |
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| CUGC for Duchenne muscular dystrophy (DMD) |
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| Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin |
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| Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers |
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| Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling |
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| Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population |
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| Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex |
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✓ |
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Amerindian-derived |
| Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6 |
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