| Erratum: SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits |
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| Erratum: In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2 |
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| Erratum: Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform |
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| WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease |
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| Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene |
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| Further delineation of the SATB2 phenotype |
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| Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians |
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| VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype |
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| Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study |
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| GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies |
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| Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations |
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| Research participants’ attitudes towards the confidentiality of genomic sequence information |
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| BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study |
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| Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 |
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| Structural genomic variation in childhood epilepsies with complex phenotypes |
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| Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 |
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| Genealogical analysis as a new approach for the investigation of drug intolerance heritability |
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| Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy |
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| Retrieving Y chromosomal haplogroup trees using GWAS data |
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| Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy |
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| Common genetic variants do not associate with CAD in familial hypercholesterolemia |
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| Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes |
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| What hinders minority ethnic access to cancer genetics services and what may help? |
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| Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation |
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| Distribution of ancestral chromosomal segments in admixed genomes and its implications for inferring population history and admixture mapping |
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| Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening |
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| A more fitting term in the incidental findings debate: one term does not fit all situations |
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| Clinical utility gene card for: Hyperlipoproteinemia, TYPE II |
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| A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome |
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| Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations |
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| Reply to Waligora |
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| A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm |
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| Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory |
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| Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification |
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| Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57 |
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| Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers |
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| Is a requirement of personalised assent realistic? A case from the GABRIEL project |
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| A novel indel in exon 9 of APC upregulates a ‘skip exon 9’ isoform and causes very severe familial adenomatous polyposis |
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| German Ethics Council on genetic diagnostics: trend setting? |
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| Allele-specific regulation of DISC1 expression by miR-135b-5p |
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| HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome |
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| New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update |
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| 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition |
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| Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts |
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| Dysfunctional NF-κB and brain myelin formation |
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| Underestimation of heritability using a mixed model with a polygenic covariance structure in a genome-wide association study for complex traits |
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| A non-genetic, epigenetic-like mechanism of telomere length inheritance? |
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| Chromosomal evolution: Molecular cytogenetic evolution of mammals |
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| Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes |
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| Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe |
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| Life insurance: genomic stratification and risk classification |
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| Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction |
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| Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population |
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✓ |
|
French Canadian founder population |
| Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD |
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| Looking for CDKN1C enhancers |
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| Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis |
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| Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome |
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| Clinical utility gene card for: 16p13.11 microdeletion syndrome |
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| Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing |
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| Clinical utility gene card for: Huntington’s disease |
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| A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations |
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| Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy |
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| The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells |
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| Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings |
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| Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations |
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| Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome |
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| Clinical utility gene card for: Xeroderma pigmentosum |
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| The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype |
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✓ |
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|
European ancestral haplotype |
| Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues |
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| Identification of potential microRNA–target pairs associated with osteopetrosis by deep sequencing, iTRAQ proteomics and bioinformatics |
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| B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations |
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| Incidental findings: the time is not yet ripe for a policy for biobanks |
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| Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides |
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| Copy number variants in patients with short stature |
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| Do BRCA1/2 mutations and low FMR1 alleles interact or not? |
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| The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations |
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| Clinical utility gene card for: Cystinosis |
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| Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-associated expression QTL Vanin-1 |
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| A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain |
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| Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation |
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| Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2 |
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| Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation |
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| Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction |
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| Erratum: Stargardt disease: towards developing a model to predict phenotype |
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| Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta |
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| Functional analysis of 11 novel GBA alleles |
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| Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations |
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| Inconsistent inheritance of telomere length (TL): is offspring TL more strongly correlated with maternal or paternal TL? |
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| Offering prenatal diagnostic tests: European guidelines for clinical practice |
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| A fast multilocus test with adaptive SNP selection for large-scale genetic-association studies |
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| Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders |
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| Variants at IRX4 as prostate cancer expression quantitative trait loci |
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| Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort |
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|
✓ |
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|
European cross-linguistic NeuroDys cohort |
| Haplotype structure and positive selection at TLR1 |
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| Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy |
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| Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3 |
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| Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon |
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| Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2 |
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| Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1 |
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| A novel locus for episodic ataxia:UBR4 the likely candidate |
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| Clinical utility gene card for: von Hippel–Lindau (VHL) |
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| Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa |
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| Clinical utility gene card for: Choroideremia |
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| Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1 |
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| Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome |
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| Erratum: The population prevalence of Down’s syndrome in England and Wales in 2011 |
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| Erratum: Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 |
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| André Boué (1925–2012) |
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| Erratum: Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010 |
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| Erratum: 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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| Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) |
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| Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation |
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| Sustained effects of online genetics education: a randomized controlled trial on oncogenetics |
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| Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB |
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| Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation |
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| Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing |
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| Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model |
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| New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia |
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| Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances |
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| Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most? |
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| Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform |
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| Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society |
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| Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al.... |
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| Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort |
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| Factors influencing public participation in biobanking |
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| Clinical utility gene card for: Hypophosphatasia – update 2013 |
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| Congenital disorders of glycosylation: other causes of ichthyosis |
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| A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy |
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| Clinical Utility Gene Card for: 3-M syndrome - Update 2013 |
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| A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes |
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| Clinical utility gene card for: Alagille Syndrome (ALGS) |
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| A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred |
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| Erratum: Symptomatic lipid storage in carriers for the PNPLA2 gene |
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| Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age |
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| Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer |
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| Comment on Gialluisi et al |
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| An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 |
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| The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility |
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| Reply to ten Kate et al |
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| Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase |
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| Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care |
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| A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family |
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| An efficient method for long-term room temperature storage of RNA |
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| The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2 |
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| Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability |
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| Atrial fibrillation: the role of common and rare genetic variants |
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| A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia |
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| Clinical utility gene card for: Vici Syndrome |
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| Correction for multiple testing in a gene region |
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| Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders |
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| Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31 |
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| Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations |
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| Dysmorphology at a distance: results of a web-based diagnostic service |
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| THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge |
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| Clinical utility gene card for: Beckwith–Wiedemann Syndrome |
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| A MEN1 syndrome with a paraganglioma |
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| Data sharing in large research consortia: experiences and recommendations from ENGAGE |
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| Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? |
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| Mutations in the C-terminus of CDKL5: proceed with caution |
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| Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study |
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| Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region |
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| CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort |
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✓ |
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European cohort |
| Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2) |
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| AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) |
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| Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits |
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| Clarifying assent in pediatric research |
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| Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations |
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| Accurate prediction of a minimal region around a genetic association signal that contains the causal variant |
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| A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions |
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| The sex-specific associations of the aromatase gene with Alzheimer’s disease and its interaction with IL10 in the Epistasis Project |
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| Clinical utility gene card for: Hereditary thrombocythemia |
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| Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims |
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| Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC) |
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| A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese |
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✓ |
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Han Chinese |
| Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 |
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| Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene |
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| The Genome of the Netherlands: design, and project goals |
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| Shining a light on CNTNAP2: complex functions to complex disorders |
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| A modified two-stage approach for family-based genome-wide association studies |
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| Non-meiotic chromosome instability in human immature oocytes |
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| The policies of ethics committees in the management of biobanks used for research: an Italian survey |
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| Secondary variants – in defense of a more fitting term in the incidental findings debate |
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| Rare copy number variation in cerebral palsy |
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| Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources |
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| S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice |
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| Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability |
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| Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster |
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| Random forest fishing: a novel approach to identifying organic group of risk factors in genome-wide association studies |
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| Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly |
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| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing |
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| EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus |
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| A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis |
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| Reconciling clinical importance and statistical significance |
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| Stargardt Disease: towards developing a model to predict phenotype |
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| Whole-genome sequencing in health care |
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| David Cox, a counsellor of geneticists |
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| The ‘thousand-dollar genome’: an ethical exploration |
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| Reply to Townsend et al. |
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| Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability |
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| Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing |
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| A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient |
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| A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document |
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| Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice |
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| Clinical utility gene card for: Johanson–Blizzard syndrome |
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| CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer |
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| Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta |
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| Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 |
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| Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder |
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| Controlling complexity: the clinical relevance of mouse complex genetics |
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| The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews |
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✓ |
|
Ashkenazi Jews |
| Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications |
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| Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders |
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| From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression |
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| Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example |
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| Homozygosity analysis in amyotrophic lateral sclerosis |
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| Clinical utility gene card for: Alström Syndrome - update 2013 |
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| Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours |
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| Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST |
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| Erratum: Genetic ancestry inference using support vector machines, and the active emergence of a unique American population |
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| EJHG to follow variation nomenclature and stimulate data reporting |
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| Kernel canonical correlation analysis for assessing gene–gene interactions and application to ovarian cancer |
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| Consulting the community: public expectations and attitudes about genetics research |
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| Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies |
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| The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population |
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|
✓ |
|
isolated Finnish population |
| A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution |
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| Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia |
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| A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model |
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| Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling |
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| Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients |
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| Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A |
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| Evidence for anticipation in Beckwith–Wiedemann syndrome |
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| Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT) |
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| De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association |
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| An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition |
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| Population structure, migration, and diversifying selection in the Netherlands |
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| PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers |
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| Joint detection of association, imprinting and maternal effects using all children and their parents |
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| Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans |
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| Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p |
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| Clinical utility gene card for: Long-QT Syndrome (types 1–13) |
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| Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome |
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| Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy |
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| Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations |
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| Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects |
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| Genetics of eye colours in different rural populations on the Silk Road |
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| Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay |
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| The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population |
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| Clinical utility gene card for: Achromatopsia - update 2013 |
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| Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome |
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| Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) |
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| Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments |
|
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| Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes |
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| Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013 |
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| A global map for dissecting phenotypic variants in human lincRNAs |
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| Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy |
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| Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration |
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| Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations |
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| Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing |
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| Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability |
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| MED12 exon 2 mutations in histopathological uterine leiomyoma variants |
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| Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC) |
|
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| HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergy |
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| Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family |
|
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✓ |
|
Swedish family |
| Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway |
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| Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients |
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| Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL |
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| The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe |
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| Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation |
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| The influence of clan structure on the genetic variation in a single Ghanaian village |
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| Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene |
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| Meiotic gene-conversion rate and tract length variation in the human genome |
|
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| Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration |
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| Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation |
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| The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ |
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| Extended spectrum of MBD5 mutations in neurodevelopmental disorders |
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| The practical implications when finding chromosome abnormalities |
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| Clinical utility gene card for: Joubert Syndrome - update 2013 |
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| Understanding the impact of genetic testing for inherited retinal dystrophy |
|
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| Comparative study of artificial chromosome centromeres in human and murine cells |
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| Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability |
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| Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis |
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| Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study |
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| Family-based association tests for sequence data, and comparisons with population-based association tests |
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| A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18 |
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| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders |
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| Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours |
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| Molecular and clinical delineation of the 17q22 microdeletion phenotype |
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| Clinical utility gene card for: Gorlin Syndrome - update 2013 |
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| Inference of identity by descent in population isolates and optimal sequencing studies |
|
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| MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events |
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|
✓ |
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|
common European mutations |
| Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome |
|
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| Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010 |
|
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| Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk |
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| A Delphi study to determine the European core curriculum for Master programmes in genetic counselling |
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| Citizens' perspectives on personalized medicine: a qualitative public deliberation study |
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| Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia |
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| Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK) |
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| Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease |
|
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| Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes |
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| Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS] |
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| Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals |
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| Mosaic copy number variation in schizophrenia |
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| Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency |
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| The population prevalence of Down’s syndrome in England and Wales in 2011 |
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| Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process |
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| Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes |
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| Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings |
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| Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification |
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| Persistence and transmission of recessive deafness and sign language: new insights from village sign languages |
|
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| Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect |
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| Clinical utility gene card for: poikiloderma with neutropenia |
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| Clinical utility gene card for: Lesch–Nyhan Syndrome - update 2013 |
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| Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age |
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| APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis |
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| Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem? |
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| New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants |
|
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| Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males |
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| Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene |
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| Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity |
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