| Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy |
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| Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes |
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| A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE |
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| Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer |
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| SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis? |
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| Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome |
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| Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population |
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| Clinical utility gene card for: Silver–Russell syndrome |
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| Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia |
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| Phenotypic manifestations of copy number variation in chromosome 16p13.11 |
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| Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer |
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| Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia |
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| EPIBLASTER-fast exhaustive two-locus epistasis detection strategy using graphical processing units |
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| A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly |
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| A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies |
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| Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome |
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| Clinical utility gene card for: Laing distal myopathy |
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| Clinical utility gene card for: Deletion 22q13 syndrome |
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| Clinical utility gene card for: Bardet–Biedl syndrome |
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| Clinical utility gene card for: Retinoblastoma |
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| NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease |
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| Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome |
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| Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling |
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| Visual arts and genetics: lessons from the past |
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| Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome |
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| Personal genetics: regulatory framework in Europe from a service provider's perspective |
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| Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon |
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| Reply to He et al |
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| MECP2 duplications in six patients with complex sex chromosome rearrangements |
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| A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm |
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| On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations |
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✓ |
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European populations |
| Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle |
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| Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes |
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| Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations |
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| A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions |
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| Experiences with array-based sequence capture; toward clinical applications |
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| Discriminative accuracy of genomic profiling comparing multiplicative and additive risk models |
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| Does the HSD17B10 gene escape from X-inactivation? |
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| LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population |
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✓ |
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Roma/Gypsy founder population |
| Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene |
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| The clinical spectrum of complete FBN1 allele deletions |
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| Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway |
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| Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny |
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| Clinical utility gene card for: hypophosphatasia |
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| Advanced age increases chromosome structural abnormalities in human spermatozoa |
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| Erratum: Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs |
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| Genome-wide association of breast cancer: composite likelihood with imputed genotypes |
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| Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia |
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| Clinical utility gene card for: Axenfeld–Rieger syndrome |
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| Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome |
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| Gene-based interaction analysis by incorporating external linkage disequilibrium information |
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| Estimating penetrance from multiple case families with predisposing mutations: extension of the ‘genotype-restricted likelihood’ (GRL) method |
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| Does heritability hide in epistasis between linked SNPs? |
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| Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients |
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| The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups |
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| Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype |
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| An account of our past to inform our future |
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| Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy |
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| Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities |
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| In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations |
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| Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data |
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| Genomic analysis of partial 21q monosomies with variable phenotypes |
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| Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients |
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| Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy |
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| Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome |
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| Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes |
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| Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome |
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| Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment |
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| A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe |
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| A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations |
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| Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy |
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| Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population |
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✓ |
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Chinese population |
| Erratum: Corrigendum to: Sporadic cases are the norm for complex disease |
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| Erratum: Therapeutic exon skipping for dysferlinopathies? |
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| The EuroGentest Clinical Utility Gene Cards |
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| Approaches to quality management and accreditation in a genetic testing laboratory |
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| Erratum: Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a |
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✓ |
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|
European and Asian |
| Erratum: Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations |
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✓ |
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European populations |
| Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH |
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| FGF21 signalling pathway and metabolic traits – genetic association analysis |
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| FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males |
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| p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study |
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| Alternative splice variants of the USH3A gene Clarin 1 (CLRN1) |
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| Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database |
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| Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 |
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| Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters |
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| Type II familial synpolydactyly: report on two families with an emphasis on variations of expression |
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| Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant |
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✓ |
|
Dutch population |
| Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean |
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| Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 |
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| Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms |
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| Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype |
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| Genetic variability at the PARK16 locus |
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| Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients |
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| Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency |
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| Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis |
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| Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions |
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| Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity |
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| Hypothetical and factual willingness to participate in biobank research |
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| Clinical utility gene card for: Lesch–Nyhan syndrome |
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| Clinical utility gene card for: Holoprosencephaly |
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| Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti |
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| Confirmation of association between multiple sclerosis and CYP27B1 |
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| Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q |
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| Genetic male infertility and mutation of CATSPER ion channels |
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| X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency |
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| A standardized framework for the validation and verification of clinical molecular genetic tests |
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| Rubinstein–Taybi syndrome (CREBBP, EP300) |
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| The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study |
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| Lack of association between a new tag SNP in the FTO gene and BMI in Czech–Slavonic population |
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|
✓ |
|
Czech–Slavonic population |
| NordicDB: a Nordic pool and portal for genome-wide control data |
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| Reply to Dlouha et al |
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| The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions |
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| Population structure and genome-wide patterns of variation in Ireland and Britain |
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| Chadic languages and Y haplogroups |
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| A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese |
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| A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 |
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| Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency |
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| Reply to Lancaster |
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| Carrier screening for Beta-thalassaemia: a review of international practice |
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| Genes predict village of origin in rural Europe |
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| Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation |
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| Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome |
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| Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate |
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| Dengue hemorrhagic fever is associated with polymorphisms in JAK1 |
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| The medical geneticist as expert in the transgenerational and developmental aspects of diseases |
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| Erratum: Corrigendum to: Common genetic variation and performance on standardized cognitive tests |
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| Erratum: Corrigendum to: Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages |
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| 5q11.2 deletion in a patient with tracheal agenesis |
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| Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase |
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| Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome |
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| CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 |
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| A qualitative study exploring genetic counsellors’ experiences of counselling children |
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| The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes |
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| Reply to Lévy et al |
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| A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis |
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| Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease |
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| Therapeutic exon ‘switching’ for dysferlinopathies? |
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| Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP |
|
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| Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis |
|
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| Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies |
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| The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels |
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| Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening |
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| New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish |
|
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|
✓ |
|
different ethnic backgrounds; Danish |
| Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements |
|
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| A powerful score test to detect positive selection in genome-wide scans |
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| Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly |
|
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| A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42) |
|
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| High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome |
|
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| Genomic profile of copy number variants on the short arm of human chromosome 8 |
|
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| A screening methodology based on Random Forests to improve the detection of gene–gene interactions |
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| Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus |
|
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| Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30 |
|
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| Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population |
|
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| The power of the Transmission Disequilibrium Test in the presence of population stratification |
|
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| Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction |
|
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| DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia |
|
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| Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe |
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| Linkage and candidate gene studies of autism spectrum disorders in European populations |
|
|
|
|
✓ |
|
|
|
European populations |
| Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study |
|
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| Genome-wide gene and pathway analysis |
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| Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism |
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| A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis |
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| A simple Bayesian mixture model with a hybrid procedure for genome-wide association studies |
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| Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations |
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| Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11–q14 |
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| A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-α levels |
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| Leena Palotie-Peltonen, 1952–2010, visionary and role model |
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| Erratum: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes |
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| Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency |
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| Linking LINGO1 to essential tremor |
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| Replication of the LINGO1 gene association with essential tremor in a North American population |
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| A sequence variant on 17q21 is associated with age at onset and severity of asthma |
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| Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1] |
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| Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation |
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| Linkage disequilibrium and age of HLA region SNPs in relation to classic HLA gene alleles within Europe |
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within Europe |
| Detection of susceptibility genes as modifiers due to subgroup differences in complex disease |
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| Usefulness of factor V Leiden mutation testing in clinical practice |
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| Retrospective access to data: the ENGAGE consent experience |
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| Erratum: Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes |
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| Erratum: Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients |
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| Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities |
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| What is a meaningful result? Disclosing the results of genomic research in autism to research participants |
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| Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel |
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✓ |
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West Eurasian; sub-Saharan |
| Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies |
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| The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases |
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| Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample |
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| GWAS: heritability missing in action? |
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| TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? |
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| Italian appeal court: a genetic predisposition to commit murder? |
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| The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy |
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| Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening |
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| The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency |
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| RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases |
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| Evidence for interaction between 5-hydroxytryptamine (serotonin) receptor 2A and MHC type II molecules in the development of rheumatoid arthritis |
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| Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk |
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| A new set of markers for human identification based on 32 polymorphic Alu insertions |
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| Bayes factors in complex genetics |
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| EMQN Best Practice Guidelines for molecular genetic testing of SCAs |
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| Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias |
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| LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma |
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| Paternal origin of the de novo constitutional t(11;22)(q23;q11) |
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| Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients |
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| Research and applied medical genetics: filling the gap |
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| ‘Me, Myself, and Why. Understanding your own genome and evolutionary history’ |
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| Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII |
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| The USH2A c.2299delG mutation: dating its common origin in a Southern European population |
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✓ |
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Southern European population |
| Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy |
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| Therapeutic exon skipping for dysferlinopathies? |
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| Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1 |
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| Common genetic variation and performance on standardized cognitive tests |
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| High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis |
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| Clinical utility gene card for: Haemochromatosis [HFE] |
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| Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) |
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| Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2) |
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| Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci |
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| Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I |
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| An omnibus test for family-based association studies with multiple SNPs and multiple phenotypes |
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| Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis |
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| Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration |
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| Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations |
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| Genetic variants in the BDNF gene and therapeutic response to risperidone in schizophrenia patients: a pharmacogenetic study |
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| Polymorphisms in the sialic acid-binding immunoglobulin-like lectin-8 (Siglec-8) gene are associated with susceptibility to asthma |
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| Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis |
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| An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance |
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| Migrations are of all times |
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| Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype |
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| Erratum: Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia |
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| Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS |
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| Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis |
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| A genome-wide association study for age-related hearing impairment in the Saami |
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| Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy |
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| A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H |
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| Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample |
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| Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34 |
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| Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages |
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| Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression |
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