| Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity |
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✓ |
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European genetic diversity |
| Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes |
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| Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 |
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| Genomic correlates of variability in immune response to an oral cholera vaccine |
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| Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations |
✓ |
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| A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype |
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| Clinical utility gene card for: Dilated Cardiomyopathy (CMD) |
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| Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum |
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| Symptomatic lipid storage in carriers for the PNPLA2 gene |
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| Frequency and characterization of DNA methylation defects in children born SGA |
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| A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring |
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| Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene |
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| Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 |
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| Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer |
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| A guide to cancer genetics in clinical practice |
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| The EuroGentest Clinical Utility Gene Cards continued |
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| Erratum: Publics and biobanks: Pan-European diversity and the challenge of responsible innovation |
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| Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients |
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| Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions |
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| Craniofacial characteristics of fragile X syndrome in mouse and man |
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| Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) |
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| Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families |
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| Genetic ancestry inference using support vector machines, and the active emergence of a unique American population |
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| Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities |
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| Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 |
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| Spanish regulatory approach for Biobanking |
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| A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array |
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| Non-invasive prenatal testing for single gene disorders: exploring the ethics |
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| Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis |
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| Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour |
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| Clinical utility gene card for: Rothmund–Thomson syndrome |
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| In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2 |
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| Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders? |
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| A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype |
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| A tiered-layered-staged model for informed consent in personal genome testing |
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| The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes |
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| Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals |
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| A focus group study on breast cancer risk presentation: one format does not fit all |
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| Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas |
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| Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes |
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| The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis |
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| How can ethics relate to science? The case of stem cell research |
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| The next controversy in genetic testing: clinical data as trade secrets? |
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| Statistical tests for detecting associations with groups of genetic variants: generalization, evaluation, and implementation |
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| SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits |
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| Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome |
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| Black Swans and Bell Curves |
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| Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease |
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| Deeper than the skin: Genetic Skin Disorders |
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| Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585 |
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| Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study |
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| CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine |
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| The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients |
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| Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements |
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| Clinical Utility Gene Card for: incontinentia pigmenti |
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| A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree |
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| Clinical Utility Gene Card for: campomelic dysplasia |
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| An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes |
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| Prioritising risk pathways of complex human diseases based on functional profiling |
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| Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation |
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| The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature |
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| Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2 |
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| Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects |
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| Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A |
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| Clinical utility gene card for: familial polycythaemia vera |
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| Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders |
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| Reply to Brodehl et al |
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| Functional characterization of desmin mutant p.P419S |
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| Familial cosegregation of rare genetic variants with disease in complex disorders |
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| Clinical utility gene card for: osteogenesis imperfecta |
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| Erratum: Clinical utility gene card for: Glanzmann thrombasthenia |
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| EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease |
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| A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human |
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| Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency |
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| Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease |
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| Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus |
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| 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype |
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| Public support and consent preference for biomedical research and biobanking in Jordan |
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| Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database |
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| Low-density lipoprotein receptor mutations generate synthetic genome-wide associations |
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| Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements |
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| Clinical utility gene card for: Pseudohypoparathyroidism |
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| Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis |
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| High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations |
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| Stronger signal of recent selection for lactase persistence in Maasai than in Europeans |
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✓ |
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Europeans |
| Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome |
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| Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria |
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| Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors |
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| Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations |
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| AKT1 fails to replicate as a longevity-associated gene in Danish and German nonagenarians and centenarians |
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✓ |
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Danish and German |
| A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q |
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| The frequency of an IL-18-associated haplotype in Africans |
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✓ |
|
Africans |
| Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study |
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| Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia |
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| Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities |
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| WikiGWA: an open platform for collecting and using genome-wide association results |
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| Dilution of candidates: the case of iron-related genes in restless legs syndrome |
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| A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression |
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| Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder |
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| Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay |
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| Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome |
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| Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans |
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| All you ever wanted to know about teratogens and more |
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| Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation |
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| Erratum: Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres |
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✓ |
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European centres |
| Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions |
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| The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88 |
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| Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study |
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| Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy |
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| Detecting genetic variants for extreme aging using multiple data sources |
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| Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012 |
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| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders |
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| Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012 |
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| Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion |
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| Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy |
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| Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people |
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| Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development |
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| Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis |
|
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| Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies |
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| Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders |
|
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| Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 |
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| FTO levels affect RNA modification and the transcriptome |
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| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
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| The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC |
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| 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 |
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| Crossing the boundary between research and health care: P3G policy statement on return of results from population studies |
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| Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy |
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| NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications |
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| A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease |
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| Using identity by descent estimation with dense genotype data to detect positive selection |
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| A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin |
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✓ |
|
Sardinian origin |
| Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies |
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| Adaptive clustering and adaptive weighting methods to detect disease associated rare variants |
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| Atrioventricular canal defect in patients with RASopathies |
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| Personalized medicine and access to health care: potential for inequitable access? |
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| A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy |
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| Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility |
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| Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation |
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| When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada |
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| Clinical utility gene card for: Glanzmann thrombasthenia |
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| Population studies: return of research results and incidental findings Policy Statement |
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| Do regulatory regions matter in FOXG1 duplications? |
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| Variable imprinting of the MEST gene in human preimplantation embryos |
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| Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations |
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| MLH1 methylation screening is effective in identifying epimutation carriers |
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| Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms |
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| A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot |
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| A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28 |
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| 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech |
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| Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data |
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| Developing a policy for paediatric biobanks: principles for good practice |
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| A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders |
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| Hierarchical clustering analysis of blood plasma lipidomics profiles from mono- and dizygotic twin families |
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| Small effective population size and genetic homogeneity in the Val Borbera isolate |
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| Bardet–Biedl syndrome |
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| Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q |
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| Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening |
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| Toward a roadmap in global biobanking for health |
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| Quality assurance practices in Europe: a survey of molecular genetic testing laboratories |
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| To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts |
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| Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome |
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| Inherited ichthyoses/generalized Mendelian disorders of cornification |
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| Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia |
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| Can (should) molecular diagnostic labs improve the quality of their services? |
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| 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements |
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| RNA-Seq and human complex diseases: recent accomplishments and future perspectives |
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| Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features |
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| Inferring separate parental admixture components in unknown DNA samples using autosomal SNPs |
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| Erratum: Low prevalence of lactase persistence in Neolithic South-West Europe |
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| Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood |
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| Aniridia |
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| Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome |
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| The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder |
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| An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy |
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| Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form |
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| Publics and biobanks: Pan-European diversity and the challenge of responsible innovation |
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| Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy |
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| Partial deletion of GLRB and GRIA2 in a patient with intellectual disability |
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| REGENT: a risk assessment and classification algorithm for genetic and environmental factors |
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| A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity |
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| Meta-analysis of genetic association studies under heterogeneity |
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| Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 |
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| Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and results |
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| Copy number variation in patients with cervical artery dissection |
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| Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping |
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| Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum |
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| Clinical utility gene card for: Centronuclear and myotubular myopathies |
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| Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions |
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| Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression |
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| Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity |
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| Erratum: Imaging genetics of FOXP2 in dyslexia |
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| Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating |
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| Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B |
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| Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus |
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| Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB) |
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| The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy |
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| PITX2 and FOXC1 spectrum of mutations in ocular syndromes |
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| CNVs leading to fusion transcripts in individuals with autism spectrum disorder |
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| Community of protein complexes impacts disease association |
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| TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype |
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| A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome |
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| De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity |
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| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy |
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| Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening |
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| Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2 |
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| Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder |
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| Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection |
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| Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs |
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| Afghanistan from a Y-chromosome perspective |
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| Quantifying harmful mutations in human populations |
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| Clinical utility gene card for: Nemaline myopathy |
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| Clinical utility gene card for: proximal spinal muscular atrophy |
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| Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene |
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| Sampling strategies for rare variant tests in case–control studies |
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| Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) |
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| Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets |
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| Erratum: Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother |
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| Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? |
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| Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation |
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| De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems |
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| Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus |
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| Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes |
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| PDGFRa mutations in humans with isolated cleft palate |
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| Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance |
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| The phenotype associated with a large deletion on MECP2 |
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| Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective |
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| Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients |
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| Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts |
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| The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe |
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| Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes |
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| Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O |
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| A family-based association test to detect gene–gene interactions in the presence of linkage |
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| A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families |
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| Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn |
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| Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation |
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family |
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| Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease |
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| Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 |
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| Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy |
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| SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations |
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| Clinical utility gene card for: Biotinidase deficiency |
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| DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations |
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| Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis |
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| Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis |
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| 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias |
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| Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers |
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| High prevalence of genetic variants previously associated with LQT syndrome in new exome data |
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| Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics |
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| Clinical utility gene card for: Abetalipoproteinaemia |
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| Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines |
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| Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study |
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| Syndactyly: phenotypes, genetics and current classification |
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| Estimating the contribution of genetic variants to difference in incidence of disease between population groups |
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| Direct-to-consumer genomic testing: systematic review of the literature on user perspectives |
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| Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis |
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| TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype |
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| Genome-wide analysis of epistasis in body mass index using multiple human populations |
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| Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations |
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| One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants |
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| COL4A2 mutation associated with familial porencephaly and small-vessel disease |
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| Erratum: Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction |
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| Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype |
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| Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations |
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| In search of triallelism in Bardet–Biedl syndrome |
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| Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients |
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| C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome |
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| Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes |
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| Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis |
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| Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation |
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| An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice |
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| The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees |
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| Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators |
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| Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome |
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| An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity |
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| Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism |
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| 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data |
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| Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study |
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| Clinical utility gene card for: haemophilia B |
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| A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene |
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| Consanguinity in Centre d’Étude du Polymorphisme Humain (CEPH) pedigrees |
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| Homozygous SMN2 deletion is a protective factor in the Swedish ALS population |
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| Association between survivin −31G>C promoter polymorphism and cancer risk: a meta-analysis |
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| MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study |
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| Clinical utility gene card for: familial erythrocytosis |
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| Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures |
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| Legislation on direct-to-consumer genetic testing in seven European countries |
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| Discovery of variants unmasked by hemizygous deletions |
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| A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility |
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| Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes |
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| Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype |
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| Impact of diagnostic misclassification on estimation of genetic correlations using genome-wide genotypes |
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| Disease gene identification strategies for exome sequencing |
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| A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection |
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| Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease |
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| KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations |
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| Clinical utility gene card for: Werner syndrome |
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| Questionable pathogenicity of FOXG1 duplication |
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| Reply to Amor et al |
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| Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome |
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| Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay |
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| Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly |
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| Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy |
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| A useful guide for your practice |
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| Erratum: Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development |
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| DNA and ability to reproduce: the ‘Secret’ of evolution |
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| Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother |
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| Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe |
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| Low prevalence of lactase persistence in Neolithic South-West Europe |
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| Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women |
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| A large duplication involving the IHH locus mimics acrocallosal syndrome |
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| Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies) |
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| Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies |
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| ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible |
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| Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process |
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| Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta |
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| Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects |
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| Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers |
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| Direct-to-consumer genetic testing services: what are the medical benefits? |
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