| Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus |
|
|
|
|
|
|
|
|
|
| Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines |
|
|
|
|
|
|
|
|
|
| Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations |
|
|
|
|
|
|
|
|
|
| Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48 |
|
|
|
|
|
|
|
|
|
| APOH interacts with FTO to predispose to healthy thinness |
|
|
|
|
|
|
|
|
|
| Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy |
|
|
|
|
|
|
|
|
|
| Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements |
|
|
|
|
|
|
|
|
|
| Chimeric transcripts resulting from complex duplications in chromosome Xq28 |
|
|
|
|
|
|
|
|
|
| A new method for estimating effect size distribution and heritability from genome-wide association summary results |
|
|
|
|
|
|
|
|
|
| A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest |
|
|
|
|
|
|
|
|
|
| A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family |
|
|
|
|
|
|
|
|
|
| Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium |
|
|
|
|
|
|
|
|
|
| Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey |
|
|
|
|
|
|
|
|
|
| EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy |
|
|
|
|
|
|
|
|
|
| Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) |
|
|
|
|
|
|
|
|
|
| Mayana Katz, Ketih Okamoto: Stem cells in modeling human genetic diseases |
|
|
|
|
|
|
|
|
|
| Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing |
|
|
|
|
|
|
|
|
|
| Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts |
|
|
|
|
|
|
|
|
|
| Pathway-based variant enrichment analysis on the example of dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans |
|
|
|
|
|
|
|
|
|
| Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes |
|
|
|
|
|
|
|
|
|
| Europeans have a higher proportion of high-frequency deleterious variants than Africans |
|
|
|
|
✓ |
|
|
|
Europeans |
| A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches |
|
|
|
|
|
|
|
|
|
| Association between telomere length and chromosome 21 nondisjunction in the oocyte |
|
|
|
|
|
|
|
|
|
| A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1 |
|
|
|
|
|
|
|
|
|
| Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family |
|
|
|
|
|
|
|
|
|
| Computational functional genomics based analysis of pain-relevant micro-RNAs |
|
|
|
|
|
|
|
|
|
| Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval |
|
|
|
|
|
|
|
|
|
| Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS |
|
|
|
|
|
|
|
|
|
| Scrutinizing the FTO locus: compelling evidence for a complex, long-range regulatory context |
|
|
|
|
|
|
|
|
|
| Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene |
|
|
|
|
|
|
|
|
|
| Ghazi M Rayan and Joseph Upton III: Congenital Hand Anomalies and Associated Syndromes |
|
|
|
|
|
|
|
|
|
| Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation |
|
|
|
|
|
|
|
|
|
| Allowing for population stratification in case-only studies of gene–environment interaction, using genomic control |
|
|
|
|
|
|
|
|
|
| The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation |
|
|
|
|
|
|
|
|
|
| ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes |
|
|
|
|
|
|
|
|
|
| Common polygenic variation contributes to risk of migraine in the Norfolk Island population |
|
|
|
|
|
|
|
|
|
| Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook |
|
|
|
|
|
|
|
|
|
| T (brachyury) is linked to a Mendelian form of neural tube defects in humans |
|
|
|
|
|
|
|
|
|
| Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes |
|
|
|
|
|
|
|
|
|
| Mosaic maternal ancestry in the Great Lakes region of East Africa |
|
|
|
|
|
|
|
|
|
| Mutations in human IFT140 cause non-syndromic retinal degeneration |
|
|
|
|
|
|
|
|
|
| Investigation of genes important in neurodevelopment disorders in adult human brain |
|
|
|
|
|
|
|
|
|
| Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome |
|
|
|
|
|
|
|
|
|
| Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events |
|
|
|
|
|
|
|
|
|
| Revisiting disease genes based on whole-exome sequencing in consanguineous populations |
|
|
|
|
|
|
|
|
|
| KIR and HLA under pressure: evidences of coevolution across worldwide populations |
|
|
|
|
|
|
|
|
|
| Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome |
|
|
|
|
|
|
|
|
|
| High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders |
|
|
|
|
|
|
✓ |
|
Middle Eastern |
| Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease |
|
|
|
|
|
|
|
|
|
| Erratum to: The somatic autosomal mutation matrix in cancer genomes |
|
|
|
|
|
|
|
|
|
| Diversity of lactase persistence in African milk drinkers |
|
|
|
|
|
|
|
|
|
| Mutation of ATF6 causes autosomal recessive achromatopsia |
|
|
|
|
|
|
|
|
|
| A narrow heritability evaluation of gestational age at birth |
|
|
|
|
|
|
|
|
|
| Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract |
|
|
|
|
|
|
|
|
|
| Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease |
|
|
|
|
|
|
|
|
|
| First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm |
|
|
|
|
|
|
|
|
|
| A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency |
|
|
|
|
|
|
|
|
|
| Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition |
|
|
|
|
|
|
|
|
|
| The somatic autosomal mutation matrix in cancer genomes |
|
|
|
|
|
|
|
|
|
| Confronting the missing epistasis problem: on the reproducibility of gene–gene interactions |
|
|
|
|
|
|
|
|
|
| Erratum to: Copy number variation in the human Y chromosome in the UK population |
|
|
|
|
|
|
|
|
|
| Telomere length and common disease: study design and analytical challenges |
|
|
|
|
|
|
|
|
|
| Copy number variation in the human Y chromosome in the UK population |
|
|
|
|
|
|
|
|
|
| ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita |
|
|
|
|
|
|
|
|
|
| Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up |
|
|
|
|
✓ |
|
|
|
Europeans |
| Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family |
|
|
|
|
|
|
|
|
|
| A cautionary note on the impact of protocol changes for genome-wide association SNP × SNP interaction studies: an example on ankylosing spondylitis |
|
|
|
|
|
|
|
|
|
| The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth |
|
|
|
|
|
|
|
|
|
| An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia |
|
|
|
|
|
|
|
|
|
| Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1 |
|
|
|
|
|
|
|
|
|
| Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 |
|
|
|
|
|
|
|
|
|
| Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data |
|
|
|
|
|
|
|
|
|
| A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease |
|
|
|
|
|
|
|
|
|
| Alison Thomas: Introducing Genetics |
|
|
|
|
|
|
|
|
|
| Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract |
|
|
|
|
|
|
|
|
|
| Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome |
|
|
|
|
|
|
|
|
|
| Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis |
|
|
|
|
|
|
|
|
|
| West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system |
|
|
|
|
|
|
|
|
|
| A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure |
|
|
|
|
|
|
|
|
|
| Human genetics special issue on computational molecular medicine |
|
|
|
|
|
|
|
|
|
| Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire |
|
|
|
|
|
|
|
|
|
| Erratum to: The Special Issue on “Computational Molecular Medicine”, edited by Rachel Karchin and Melissa S. Cline |
|
|
|
|
|
|
|
|
|
| Analysis of human upstream open reading frames and impact on gene expression |
|
|
|
|
|
|
|
|
|
| Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions deriv |
|
|
|
|
|
|
|
|
|
| Homozygous MED25 mutation implicated in eye–intellectual disability syndrome |
|
|
|
|
|
|
|
|
|
| Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia |
|
|
|
|
|
|
|
|
|
| Ian MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy: Genetic counseling research: a practical guide |
|
|
|
|
|
|
|
|
|
| Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology |
|
|
|
|
|
|
|
|
|
| Replicated linear association between DUF1220 copy number and severity of social impairment in autism |
|
|
|
|
|
|
|
|
|
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes |
|
|
|
|
|
|
|
|
|
| Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases |
|
|
|
|
|
|
|
|
|
| Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity |
|
|
|
|
|
|
|
|
|
| Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss |
|
|
|
|
|
|
|
|
|
| LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome |
|
|
|
|
|
|
|
|
|
| Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia |
|
|
|
|
|
|
|
|
|
| Types and effects of protein variations |
|
|
|
|
|
|
|
|
|
| Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 |
|
|
|
|
|
|
|
|
|
| Multi-ethnic analysis reveals soluble l-selectin may be post-transcriptionally regulated by 3′UTR polymorphism: the Multi-Ethnic Study of Atherosclerosis (MESA) |
|
|
|
|
|
|
|
|
|
| Genome-wide methylation analysis in Silver–Russell syndrome patients |
|
|
|
|
|
|
|
|
|
| A systematic heritability analysis of the human whole blood transcriptome |
|
|
|
|
|
|
|
|
|
| Interactions between household air pollution and GWAS-identified lung cancer susceptibility markers in the Female Lung Cancer Consortium in Asia (FLCCA) |
|
|
|
|
|
|
|
|
|
| Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 |
|
|
|
|
|
|
|
|
|
| Is there a male-specific effect on hypertension? |
|
|
|
|
|
|
|
|
|