| Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time |
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| Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations |
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| The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment |
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| Genotype and cognitive phenotype of patients with tuberous sclerosis complex |
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| How to deal with the early GWAS data when imputing and combining different arrays is necessary |
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| Reply to Talseth-Palmer et al |
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| Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly) |
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| A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease |
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| Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated |
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| Clinical utility gene card for: acrodermatitis enteropathica |
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| 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations |
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| 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome |
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| Clinical utility gene card for: Alport syndrome |
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| A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data |
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| Use of the gamma method for self-contained gene-set analysis of SNP data |
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| Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons |
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| ‘Nasal’ speech–hyper or hypo? |
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| Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration |
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| Nasal speech in patients with 12q15 microdeletions |
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| Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics |
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✓ |
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West-European |
| Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? |
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| Researchers’ opinions towards the communication of results of biobank research: a survey study |
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| Clinical utility gene card for: Trimethylaminuria |
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| A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations |
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| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum |
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| Severe intellectual disability and autistic features associated with microduplication 2q23.1 |
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| Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists |
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| Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis |
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| UGT1A1 is a major locus influencing bilirubin levels in African Americans |
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| Sephardic signature in haplogroup T mitochondrial DNA |
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✓ |
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Sephardic |
| A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function |
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| Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas |
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| Case report: type 1 diabetes in monozygotic quadruplets |
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| ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome |
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| A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development |
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| Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles |
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| Newborn screening for sickle cell disease: whose reproductive benefit? |
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| Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres |
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| Clinical utility gene card for: Adrenoleukodystrophy |
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| Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts |
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| Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders |
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| Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature |
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| Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations |
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| Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata |
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| Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis |
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| Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes |
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| Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus |
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| Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts |
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| Clinical utility gene card for: Multi-minicore disease |
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| Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome |
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| Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population |
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| Clinical utility gene card for: Central core disease |
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| No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration |
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| Reply to Cipriani et al |
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| First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis |
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| Genome-wide association study of coronary artery disease in the Japanese |
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| De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance |
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| Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats |
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| Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer |
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| Alagille syndrome: pathogenesis, diagnosis and management |
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| Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles |
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| Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44 |
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| On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case–control samples |
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| Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics |
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| Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction |
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| Involvement of surfactant protein D in emphysema revealed by genetic association study |
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| Clinical utility gene card for: Fabry disease |
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| Erratum: MECP2 duplications in six patients with complex sex chromosome rearrangements |
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| Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement |
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| Erratum: Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia |
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| Erratum: A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk |
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| Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies |
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| Clinical utility gene card for: Phenylketonuria |
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| Advances in Alport syndrome diagnosis using next-generation sequencing |
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| Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome |
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| Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders |
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| Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome |
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| Imaging genetics of FOXP2 in dyslexia |
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| Coronary artery disease in Alström syndrome |
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| No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome |
|
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| Clinical utility gene card for: Cystinuria |
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| Clinical utility gene card for: multiple endocrine neoplasia type 2 |
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| Clinical utility gene card for: Mucopolysaccharidosis type II |
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| Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 |
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| C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa |
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| Brazilian urban population genetic structure reveals a high degree of admixture |
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| Erratum: Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy |
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| Erratum: An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4 |
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| A systematic eQTL study of cis–trans epistasis in 210 HapMap individuals |
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| Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation |
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| Identification and functional analysis of novel THAP1 mutations |
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| Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo |
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| Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management |
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| People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population |
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| EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta |
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| Clinical utility gene card for: Alveolar rhabdomyosarcoma |
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| Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis |
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| Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes |
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| Evidence of linkage to chromosomes 10p15.3–p15.1, 14q24.3–q31.1 and 9q33.3–q34.3 in non-syndromic colorectal cancer families |
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| A British approach to sampling |
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| Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens |
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| Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis |
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| Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47 |
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| Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia |
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| Discrepancies in reporting the CAG repeat lengths for Huntington's disease |
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| Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits |
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| A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene |
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| Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome |
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| Natural positive selection and north–south genetic diversity in East Asia |
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| Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families |
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| Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort |
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| The potential influence of KIR cluster profiles on disease patterns of Canadian Aboriginals and other indigenous peoples of the Americas |
|
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|
✓ |
|
Canadian Aboriginals; indigenous peoples of the Americas |
| CGene: an R package for implementation of causal genetic analyses |
|
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| Motivators for participation in a whole-genome sequencing study: implications for translational genomics research |
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| A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q |
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| Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation |
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| Normal glycosylation screening does not rule out SRD5A3-CDG |
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| iPS cells to model CDKL5-related disorders |
|
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| 2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders |
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| A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions |
|
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| Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome |
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| Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis |
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| Maternally inherited mitochondrial DNA disease in consanguineous families |
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| Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia |
|
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|
✓ |
|
Gypsy |
| The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree |
|
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| 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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| Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow |
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| Genetic determination of human facial morphology: links between cleft-lips and normal variation |
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| Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function |
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| Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles |
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| Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study |
|
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| Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes |
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| Clinical utility gene card for: Haemophilia A |
|
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| Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law |
|
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| A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement |
|
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| An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction |
|
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| Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms |
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| Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) |
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| Mosaics and moles |
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| Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene |
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| Renal coloboma syndrome |
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| Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus |
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| Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes |
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| Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency |
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| Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms? |
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| Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene |
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| Rapid aneuploidy detection or karyotyping? Ethical reflection |
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| 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) |
|
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| Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity |
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| Finding disease genes: a fast and flexible approach for analyzing high-throughput data |
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| A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites |
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| Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655 |
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| Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability |
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| Clinical utility gene card for: Dyskeratosis congenita |
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| Assessing the pathological relevance of SPINK1 promoter variants |
|
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| GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies |
|
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| Clinical presentation and mutations in Danish patients with Wilson disease |
|
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|
✓ |
|
Danish patients |
| Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes |
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| The causality of de novo copy number variants is overestimated |
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| Fabry or not Fabry – a question of ascertainment |
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| The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly |
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| Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity |
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| The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter |
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| Worldwide spatial genetic structure of angiotensin-converting enzyme gene: a new evolutionary ecological evidence for the thrifty genotype hypothesis |
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| Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency |
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| Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes |
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| Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 |
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| Clinical utility gene card for: Alström syndrome |
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| Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations |
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| Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders |
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| The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein |
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| An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4 |
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| Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions |
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| Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions |
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| Clinical utility gene card for: Menkes disease |
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| Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies |
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| Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism |
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| Everything a health professional needs to know about genetics |
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| Gene set analysis of SNP data: benefits, challenges, and future directions |
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| Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families |
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| High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences |
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✓ |
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Caucasus; West Asia |
| Clinical utility gene card for: Joubert syndrome |
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| Meta-analysis of genome-wide association for migraine in six population-based European cohorts |
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✓ |
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European cohorts |
| Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis |
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| Genetic architecture of circulating lipid levels |
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| Reduced transcript expression of genes affected by inherited and de novo CNVs in autism |
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| Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia |
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| Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD |
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| A novel approach for small sample size family-based association studies: sequential tests |
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| Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes |
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| Variable set enrichment analysis in genome-wide association studies |
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| Genomic inflation factors under polygenic inheritance |
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| Clinical utility gene card for: CHARGE syndrome |
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| Strengthening the reporting of genetic risk prediction studies: the GRIPS statement |
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| New disease gene location and high genetic heterogeneity in idiopathic scoliosis |
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| Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis |
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| Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation |
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| Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results |
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| Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence |
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| The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians |
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| Association of TH01 with human longevity revisited |
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| Model-Based Multifactor Dimensionality Reduction to detect epistasis for quantitative traits in the presence of error-free and noisy data |
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| Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration |
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| Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) |
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| Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers |
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| Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities |
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| Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome |
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| Clinical utility gene card for: Usher syndrome |
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| Children, biobanks and the scope of parental consent |
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| The expanded human disease network combining protein–protein interaction information |
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| von Hippel–Lindau disease: A clinical and scientific review |
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| A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q |
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| Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration |
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| Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis |
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| Epistasis between neurochemical gene polymorphisms and risk for ADHD |
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| Clinical utility gene card for: Meckel syndrome |
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| Polymorphisms in MC3R promoter and CTSZ 3′UTR are associated with tuberculosis susceptibility |
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| Pathway-based identification of SNPs predictive of survival |
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| Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender |
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| TSEN54 mutations cause pontocerebellar hypoplasia type 5 |
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| Clinical utility gene card for: α-Mannosidosis |
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| Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development |
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| Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) |
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| Clinical utility gene card for: 3M syndrome |
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| Intellectual disability without epilepsy associated with STXBP1 disruption |
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| Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? |
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| Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets |
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| Respiratory chain complex I deficiency caused by mitochondrial DNA mutations |
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| The GENCODE exome: sequencing the complete human exome |
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| Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland |
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| Clinical utility gene card for: Gitelman syndrome |
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| Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease |
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| Clinical utility gene card for: Mowat–Wilson syndrome |
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| Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model |
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| De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation |
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| Parents’ and children's communication about genetic risk: a qualitative study, learning from families’ experiences |
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| Clinical utility gene card for: renal coloboma (Papillorenal) syndrome |
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| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders |
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| Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring |
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| Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations |
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| Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 |
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| Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 |
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| Identification of regions of positive selection using Shared Genomic Segment analysis |
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| Clinical utility gene card for: Gorlin syndrome |
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| Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population |
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| The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth |
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| Clinical utility gene card for: achromatopsia |
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| Clinical utility gene card for: blue cone monochromatism |
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| Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations |
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| Clinical utility gene card for: hypertrophic cardiomyopathy (type 1–14) |
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| Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 |
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| Genetic testing and common disorders in a public health framework |
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| A nonsense mutation in FMR1 causing fragile X syndrome |
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| Does the new HapMap throw the baby out with the bath water? |
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| The effect of genome-wide association scan quality control on imputation outcome for common variants |
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| Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation |
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| Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment? |
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| Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec |
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| Clinical utility gene card for: α-1-antitrypsin deficiency |
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| The phenotype of recurrent 10q22q23 deletions and duplications |
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| HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia |
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| Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes |
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| Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections |
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| Relationship between the polymorphism of tumor necrosis factor-α-308 G>A and susceptibility to inflammatory bowel diseases and colorectal cancer: a meta-analysis |
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| ALK2 mutation in a patient with Down's syndrome and a congenital heart defect |
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| Craniosynostosis |
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| Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques |
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| Clinical utility gene card for: Diamond Blackfan anemia |
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| Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population |
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| Genome-wide association study confirms extant PD risk loci among the Dutch |
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| Homozygosity mapping in outbred families with mental retardation |
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| Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene |
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| Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population |
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✓ |
|
Italian population |
| Clinical utility gene card for: malignant hyperthermia |
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| SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency |
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| Clinical utility gene card for: WAGR syndrome |
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| Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia |
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| Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype |
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✓ |
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✓ |
|
European founder haplotype; Dutch |
| Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma |
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| Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia |
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| Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample |
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| Clinical utility gene card for: von Willebrand disease |
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| An atypical case of hypomethylation at multiple imprinted loci |
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