| Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions |
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East Asians and sub-Saharan Africans |
| Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families |
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| Distribution of the number of false discoveries in large-scale family-based association testing with application to the association between PTPN1 and hypertension and obesity |
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| Characterization of the ZBTB42 gene in humans and mice |
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| Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy |
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| Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 |
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| DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2 |
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| Erratum to: Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome |
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| Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients |
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| Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice |
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| Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis |
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| A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3 |
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| Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans |
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African Americans |
| Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18 |
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| Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes |
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| Investigation of 15 of the top candidate genes for late-onset Alzheimer’s disease |
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| Genetic variants in telomere-maintaining genes and skin cancer risk |
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| Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome |
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| Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population |
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| Insight into the biochemical characteristics of a novel glucokinase gene mutation |
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| Regions of homozygosity and their impact on complex diseases and traits |
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| Genetic risk sum score comprised of common polygenic variation is associated with body mass index |
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| Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics |
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| Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence |
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| Identification and experimental validation of G protein alpha inhibiting activity polypeptide 2 (GNAI2) as a microRNA-138 target in tongue squamous cell carcinoma |
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| High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients |
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| Conditional meta-analysis stratifying on detailed HLA genotypes identifies a novel type 1 diabetes locus around TCF19 in the MHC |
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| Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy |
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| AKT1 polymorphisms are associated with risk for metabolic syndrome |
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| Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots |
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| Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants |
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| Genome-wide analysis of copy number variants in age-related macular degeneration |
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| A novel survival multifactor dimensionality reduction method for detecting gene–gene interactions with application to bladder cancer prognosis |
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| Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis |
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| Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 |
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| Synthetic lethal interactions for the development of cancer therapeutics: biological and methodological advancements |
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| Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals |
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| A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome |
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| −13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1 |
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| Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16 |
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| Heather Skirton and Christine Patch: Genetics for the health sciences: a handbook for clinical healthcare |
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| Partial correlation network analyses to detect altered gene interactions in human disease: using preeclampsia as a model |
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| Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach |
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| Genetic variants in the KIF6 region and coronary event reduction from statin therapy |
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| Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome |
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| Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis |
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| The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel |
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| The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes |
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| PTEN transcript variants caused by illegitimate splicing in “aged” blood samples and EBV-transformed cell lines |
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| Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica |
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African ancestry |
| Using public control genotype data to increase power and decrease cost of case–control genetic association studies |
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| Oren Harman: The Price of Altruism. George Price and the Search for the Origins of Kindness |
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| FTO influences on longitudinal BMI over childhood and adulthood and modulation on relationship between birth weight and longitudinal BMI |
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| Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene |
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| Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity |
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| Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome |
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| Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects |
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| A large-scale candidate gene association study of age at menarche and age at natural menopause |
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| Sex-specific genetic architecture of human fatness in Chinese: the SAPPHIRe Study |
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| Nicotinic acetylcholine receptor genes on chromosome 15q25.1 are associated with nicotine and opioid dependence severity |
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| IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians |
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| Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33 |
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| No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A |
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Chinese |
| Achalasia: will genetic studies provide insights? |
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| Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7 |
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| Carole H Browner, H Mabel Prelora: Neurogenetic diagnoses: the power of hope, and the limits of today’s medicine |
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| A. Gardner, T. Davies: Human Genetics, 2nd Edition |
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| An approach based on a genome-wide association study reveals candidate loci for narcolepsy |
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| Susceptibility to chronic thromboembolic pulmonary hypertension may be conferred by miR-759 via its targeted interaction with polymorphic fibrinogen alpha gene |
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| Speicher, Antonarakis, Motulsky (eds): Vogel and Motulsky’s human genetics, 4th edn |
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| Walther W., Stein U.S. (eds): Gene therapy of cancer: methods and protocols, 2nd ed |
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| Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate |
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| Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing |
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| A biopsy sample reduction approach to identify significant alterations of the testicular transcriptome in the presence of Y-chromosomal microdeletions that are independent of germ cell composition |
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| Allele-specific recognition of the 3′ splice site of INS intron 1 |
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| Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene |
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| Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects |
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| A homozygous mutation in LTBP2 causes isolated microspherophakia |
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| Factors influencing disease phenotype and penetrance in HFE haemochromatosis |
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| Genome-wide association filtering using a highly locus-specific transmission/disequilibrium test |
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| S.J.L. Knight: Monographs in Human Genetics, Vol. 18, Genetics of Mental Retardation |
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| Genome-wide association identifies a deletion in the 3′ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy |
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| Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk |
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| Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation |
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| Bonnie S. LeRoy, Patricia McCarthy Veach, Dianne M. Bartels (eds): Genetic counselling practice: advanced concepts and skills |
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| CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation |
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| Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry |
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| An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews |
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| Genome-wide searching of rare genetic variants in WTCCC data |
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| Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases |
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| Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes |
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| Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA |
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| The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression |
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| Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics |
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| Genetic determinants of autism in individuals with deletions of 18q |
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| Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs, David J. Weatherall: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management |
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| Self-reported ethnicity, genetic structure and the impact of population stratification in a multiethnic study |
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| Obituary of Leena Peltonen-Palotie |
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| Association between genome-wide association studies reported SNPs and pediatric-onset Crohn’s disease in Canadian children |
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| Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape |
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| Polymorphisms in the GNB3 and ADD1 genes and blood pressure in a Chinese population |
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Chinese population |
| Christopher Baum: Genetic modification of haematopoietic stem cells: methods and protocols |
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| A locus for juvenile myoclonic epilepsy maps to 2q33–q36 |
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| WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations |
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| High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations |
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✓ |
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✓ |
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European populations; Spanish and French Basques |
| The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer |
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| Dena S. Davis: Genetic Dilemmas: Reproductive Technology, Parental Choices, and Children’s Futures 2/e |
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| Copy number variants at Williams–Beuren syndrome 7q11.23 region |
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| The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) |
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| Update on molecular diagnosis of hereditary hemorrhagic telangiectasia |
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| Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy |
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| Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand |
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| Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits |
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| A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency |
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| Power analysis for case–control association studies of samples with known family histories |
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| Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families |
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| Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers |
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✓ |
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✓ |
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European; African American |
| Malcolm Collins: Medicine and Sports Science, Vol. 54: Genetics and Sports |
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| A single nucleotide polymorphism in the FADS1/FADS2 gene is associated with plasma lipid profiles in two genetically similar Asian ethnic groups with distinctive differences in lifestyle |
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| Evidence for inheritance in patients with VACTERL association |
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| Fine mapping of the 9q31 Hirschsprung’s disease locus |
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| Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency |
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| Heritability of chronic venous disease |
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| Two-stage case–control designs for rare genetic variants |
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| Ethnic diversity of DNA methylation in the OPRM1 promoter region in lymphocytes of heroin addicts |
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| Comparison of the DNA methylation profiles of human peripheral blood cells and transformed B-lymphocytes |
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| Philippe Collas (ed): Chromatin immunoprecipitation assays: methods and protocols |
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| West African and Amerindian ancestry and risk of myocardial infarction and metabolic syndrome in the Central Valley population of Costa Rica |
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| Digging deeper into East African human Y chromosome lineages |
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| Keith DiPetrillo (ed): “Cardiovascular Genomics: Methods and Protocols”. Springer Protocols—Methods in Molecular Biology |
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| Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease |
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| Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration |
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| Erratum to: Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss |
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| Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex |
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| A genome-wide survey does not show the genetic distinctiveness of Basques |
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| Peter Harper: Myotonic dystrophy |
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| Population description and its role in the interpretation of genetic association |
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| Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly |
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| Olby, Robert (2009): Francis Crick. Hunter of Life’s Secrets |
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| Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss |
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| Distinct breakpoints in two cases with deletion in the Yp11.2 region in Japanese population |
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| Erratum to: Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging |
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| Novel human pathological mutations |
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| Michal Janitz (ed.) (2008): Next-Generation Genome Sequencing |
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| Kalirin: a novel genetic risk factor for ischemic stroke |
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| Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility |
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| Selection and mutation in the “new” genetics: an emerging hypothesis |
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| Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging |
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| Significant association of glutamate receptor, ionotropic N-methyl-d-aspartate 3A (GRIN3A), with nicotine dependence in European- and African-American smokers |
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✓ |
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✓ |
|
European-American; African-American |
| Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE |
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| PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis |
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| Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth |
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| Jones S, Keynes M (eds): Twelve Galton lectures. A centenary selection with commentaries |
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| Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3 |
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| Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6 |
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| A meta-analysis of three polymorphisms in the endothelial nitric oxide synthase gene (NOS3) and their effect on the risk of diabetic nephropathy |
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