Human non-synonymous SNPs: server and survey.
paper
Cited
Public
Unavailable
- Authors
- Ramensky, Vasily; Bork, Peer; Sunyaev, Shamil
- Year
- 2002
- Journal
- Nucleic acids research
- PMID
- 12202775
- DOI
- 10.1093/nar/gkf493
- PMCID
- PMC137415
Human single nucleotide polymorphisms (SNPs) represent the most frequent type of human population DNA variation. One of the main goals of SNP research is to understand the genetics of the human phenotype variation and especially the genetic basis of human complex diseases. Non-synonymous coding SNPs (nsSNPs) comprise a group of SNPs that, together with SNPs in regulatory regions, are believed to have the highest impact on phenotype. Here we present a World Wide Web server to predict the effect of an nsSNP on protein structure and function. The prediction method enabled analysis of the publicly available SNP database HGVbase, which gave rise to a dataset of nsSNPs with predicted functionality. The dataset was further used to compare the effect of various structural and functional characteristics of amino acid substitutions responsible for phenotypic display of nsSNPs. We also studied the dependence of selective pressure on the structural and functional properties of proteins. We found that in our dataset the selection pressure against deleterious SNPs depends on the molecular function of the protein, although it is insensitive to several other protein features considered. The strongest selective pressure was detected for proteins involved in transcription regulation.
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| GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in <i>ANOS1, RNF216, WDR11, FGFR1, CHD7</i>, and <i>POLR3A</i> Genes in a Case Series and Review of the Literature. | Neocleous V et al. | β | 2020 | β |
| Heterozygous <i>STUB1</i> missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. | Chen DH et al. | β | 2020 | β |
| Identification of a novel <i>HEXB</i> Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses. | Mansouri-Movahed F et al. | β | 2020 | β |
| <i>HRness</i> in Breast and Ovarian Cancers. | Santana Dos Santos E et al. | β | 2020 | β |
| Impact of Gln94Glu mutation on the structure and function of protection of telomere 1, a cause of cutaneous familial melanoma. | Amir M et al. | β | 2020 | β |
| In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss. | Al-Kindi MN et al. | β | 2020 | β |
| In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. | Arifuzzaman M et al. | β | 2020 | β |
| In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair. | Remali J et al. | β | 2020 | β |
| Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate. | Pandey A et al. | β | 2020 | β |
| Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach. | Alzahrani FA et al. | β | 2020 | β |
| <i>PRKDC</i>: new biomarker and drug target for checkpoint blockade immunotherapy. | Tan KT et al. | β | 2020 | β |
| Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas. | Wallace PW et al. | β | 2020 | β |
| Microglia Implicated in Tauopathy in the Striatum of Neurodegenerative Disease Patients from Genotype to Phenotype. | Li H et al. | β | 2020 | β |
| Molecular characterization of hemophilia B patients in Colombia. | Parrado Jara YA et al. | β | 2020 | β |
| Novel candidates in early-onset familial colorectal cancer. | Jansen AML et al. | β | 2020 | β |
| Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. | Manivannan SN et al. | β | 2020 | β |
| Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences. | Emadi E et al. | β | 2020 | β |
| Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. | Hwang IT et al. | β | 2020 | β |
| The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders. | Sasorith S et al. | β | 2020 | β |
| Three Human Pol ΞΉ Variants with Impaired Polymerase Activity Fail to Rescue H<sub>2</sub>O<sub>2</sub> Sensitivity in <i>POLI</i>-Deficient Cells. | Yeom M et al. | β | 2020 | β |
| Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression. | Jdila MB et al. | β | 2020 | β |
| Variant profiles of genes mapping to chromosome 16q loss in Wilms tumors reveals link to cilia-related genes and pathways. | Kitamura E et al. | β | 2020 | β |
| A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree. | Zhang BN et al. | β | 2019 | β |
| A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A. | Demal TJ et al. | β | 2019 | β |
| A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population. | Miyagawa T et al. | β | 2019 | β |
| An Exome-Wide Association Study Identifies New Susceptibility Loci for Age of Smoking Initiation in African- and European-American Populations. | Jiang K et al. | β | 2019 | β |
| An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer. | Oh JJ et al. | β | 2019 | β |
| An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. | Geng X et al. | β | 2019 | β |
| A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report. | Zhang M et al. | β | 2019 | β |
| Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome. | Abduljaleel Z et al. | β | 2019 | β |
| Association of intron microsatellite status and exon mutational profiles of TP53 in human colorectal cancer. | Liu X et al. | β | 2019 | β |
| Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy. | Shi D et al. | β | 2019 | β |
| Challenges in funding and developing genomic software: roots and remedies. | Siepel A | β | 2019 | β |
| Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact. | Badgujar NV et al. | β | 2019 | β |
| Computational Analysis of High-Risk SNPs in Human DBY Gene Responsible for Male Infertility: A Functional and Structural Impact. | Nailwal M et al. | β | 2019 | β |
| De novo substitutions of TRPM3 cause intellectual disability and epilepsy. | Dyment DA et al. | β | 2019 | β |
| Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine. | You YN et al. | β | 2019 | β |
| Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases. | Michels M et al. | β | 2019 | β |
| Human genotyping and an experimental model reveal NPR-C as a possible contributor to morbidity in coarctation of the aorta. | LaDisa JF et al. | β | 2019 | β |
| <i>De novo UBE2A</i> mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways. | Magistroni V et al. | β | 2019 | β |
| Identification of a novel pathogenic missense mutation in <i>PRPF31</i> using whole exome sequencing: a case report. | Bryant L et al. | β | 2019 | β |
| Identification of most damaging nsSNPs in human CCR6 gene: In silico analyses. | Akhtar M et al. | β | 2019 | β |
| Imbalanced sphingolipid signaling is maintained as a core proponent of a cancerous phenotype in spite of metabolic pressure and epigenetic drift. | Speirs MMP et al. | β | 2019 | β |
| Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma. | Negri GL et al. | β | 2019 | β |
| Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics-based approach to understand the mechanism of cancer development. | Amir M et al. | β | 2019 | β |
| Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease. | Kim KW et al. | β | 2019 | β |
| Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA. | Negron C et al. | β | 2019 | β |
| Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools. | Desai M et al. | β | 2019 | β |
| Prediction of deleterious mutations in coding regions of mammals with transfer learning. | Plekhanova E et al. | β | 2019 | β |
| Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation. | Islam MJ et al. | β | 2019 | β |
| Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. | Stanwyck LK et al. | β | 2019 | β |
| Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies. | Gopalakrishnan C et al. | β | 2019 | β |
| Review: Clinical, neuropathological and genetic features of Lewy body dementias. | Hansen D et al. | β | 2019 | β |
| SAAVpedia: Identification, Functional Annotation, and Retrieval of Single Amino Acid Variants for Proteogenomic Interpretation. | Lee SY et al. | β | 2019 | β |
| Shedding Light on the Interaction of Human Anti-Apoptotic Bcl-2 Protein with Ligands through Biophysical and in Silico Studies. | Ramos J et al. | β | 2019 | β |
| Structural and functional impact of non-synonymous SNPs in the CST complex subunit TEN1: structural genomics approach. | Amir M et al. | β | 2019 | β |
| Systematic exploration of predicted destabilizing nonsynonymous single nucleotide polymorphisms (nsSNPs) of human aldehyde oxidase: A Bio-informatics study. | Coelho C et al. | β | 2019 | β |
| Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition. | Sanghera DK et al. | β | 2019 | β |
| The global clonal complexity of the murine blood system declines throughout life and after serial transplantation. | Ganuza M et al. | β | 2019 | β |
| Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. | Bachtiar M et al. | β | 2019 | β |
| Using mechanistic models for the clinical interpretation of complex genomic variation. | PeΓ±a-Chilet M et al. | β | 2019 | β |
| Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. | Yang U et al. | β | 2019 | β |
| VIPdb, a genetic Variant Impact Predictor Database. | Hu Z et al. | β | 2019 | β |
| Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient. | Vuillaumier-Barrot S et al. | β | 2019 | β |
| Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms. | Seifi M et al. | β | 2018 | β |
| An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. | Geng X et al. | β | 2018 | β |
| A novel <i>CUL7</i> mutation in a Japanese patient with 3M syndrome. | Takatani T et al. | β | 2018 | β |
| Associations and interactions between variants in selenoprotein genes, selenoprotein levels and the development of abdominal aortic aneurysm, peripheral arterial disease, and heart failure. | Strauss E et al. | β | 2018 | β |
| Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. | Zhang D et al. | β | 2018 | β |
| CARD9<sup>S12N</sup> facilitates the production of IL-5 by alveolar macrophages for the induction of type 2 immune responses. | Xu X et al. | β | 2018 | β |
| Circadian genes and risk of prostate cancer in the prostate cancer prevention trial. | Chu LW et al. | β | 2018 | β |
| Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. | Prasad A et al. | β | 2018 | β |
| Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067. | Figueroa DB et al. | β | 2018 | β |
| Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India. | Singh PK et al. | β | 2018 | β |
| Expression and function of nuclear receptor coactivator 4 isoforms in transformed endometriotic and malignant ovarian cells. | Rockfield S et al. | β | 2018 | β |
| Genetic Analysis of <i>CLCN7</i> in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis. | Kim SY et al. | β | 2018 | β |
| Genetic variants in 3'-UTRs of MTHFR in the pregnancies complicated with preeclampsia and bioinformatics analysis. | Mohammadpour-Gharehbagh A et al. | β | 2018 | β |
| Genetic variants in the exon region of versican predict survival of patients with resected early-stage hepatitis B virus-associated hepatocellular carcinoma. | Liu X et al. | β | 2018 | β |
| Genetic Variation of the Kinases That Phosphorylate Tenofovir and Emtricitabine in Peripheral Blood Mononuclear Cells. | Figueroa DB et al. | β | 2018 | β |
| Genome-wide characterization of genetic variants and putative regions under selection in meat and egg-type chicken lines. | Boschiero C et al. | β | 2018 | β |
| Identification and characterization of functional single nucleotide polymorphisms (SNPs) in Axin 1 gene: a molecular dynamics approach. | Khan I et al. | β | 2018 | β |
| Identification and in silico analysis of functional SNPs of human TAGAP protein: A comprehensive study. | Arshad M et al. | β | 2018 | β |
| Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts. | Zhou Z et al. | β | 2018 | β |
| Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era. | DiStefano JK et al. | β | 2018 | β |
| Impact of rare and low-frequency sequence variants on reliability of genomic prediction in dairy cattle. | Zhang Q et al. | β | 2018 | β |
| Implication of OPRM1 A118G Polymorphism in Opioids Addicts in Pakistan: In vitro and In silico Analysis. | Ahmed M et al. | β | 2018 | β |
| Inferring the effect of genomic variation in the new era of genomics. | Chakravorty S et al. | β | 2018 | β |
| In silico analysis of nsSNPs in ABCB1 gene affecting breast cancer associated protein P-glycoprotein (P-gp). | Chakraborty R et al. | β | 2018 | β |
| In silico approaches to discover the functional impact of non-synonymous single nucleotide polymorphisms in selective sweep regions of the Landrace genome. | Shin D et al. | β | 2018 | β |
| In silico approaches to identify the functional and structural effects of non-synonymous SNPs in selective sweeps of the Berkshire pig genome. | Shin D et al. | β | 2018 | β |
| In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population. | Morad FA et al. | β | 2018 | β |
| Modification of the association between antipsychotic treatment response and childhood adversity by MMP9 gene variants in a first-episode schizophrenia cohort. | McGregor N et al. | β | 2018 | β |
| Molecular and <i>in-silico</i> analysis of single nucleotide polymorphism targeting human <i>TP53</i> gene exon 5-8 in Sudanese esophageal cancer patients. | Elfaki RM et al. | β | 2018 | β |
| Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. | Malik R et al. | β | 2018 | β |
| Mutations in <i>membrane cofactor protein</i> (<i>CD46</i>) gene in Indian children with hemolytic uremic syndrome. | Khandelwal P et al. | β | 2018 | β |
| Neutral Theory, Disease Mutations, and Personal Exomes. | Kumar S et al. | β | 2018 | β |
| Oncogenic mutations in KEAP1 disturbing inhibitory Nrf2-Keap1 interaction: Activation of antioxidative pathway in papillary thyroid carcinoma. | Danilovic DLS et al. | β | 2018 | β |
| PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants. | Bodea CA et al. | β | 2018 | β |
| RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions. | Hodges AM et al. | β | 2018 | β |
| Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India. | Amritkumar P et al. | β | 2018 | β |
| Role of variant allele fraction and rare SNP filtering to improve cellular DNA repair endpoint association. | Vossen DM et al. | β | 2018 | β |
| Structure-Function Mutational Analysis and Prediction of the Potential Impact of High Risk Non-Synonymous Single-Nucleotide Polymorphism on Poliovirus 2A Protease Stability Using Comprehensive Informatics Approaches. | Younus A et al. | β | 2018 | β |
| Synonymous mutation adenomatous polyposis coliΞ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutationβnegative familial adenomatous polyposis. | Liu WQ et al. | β | 2018 | β |
| Towards a Central Role of <i>ISL1</i> in the Bladder Exstrophyβ»Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling. | Sharma A et al. | β | 2018 | β |
| Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile. | Elayaperumal S et al. | β | 2018 | β |
| Aging: Somatic Mutations, Epigenetic Drift and Gene Dosage Imbalance. | Veitia RA et al. | β | 2017 | β |
| A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. | Pappa T et al. | β | 2017 | β |
| Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency. | Bali DS et al. | β | 2017 | β |
| Comparative transcriptomics uncovers alternative splicing and molecular marker development in radish (Raphanus sativus L.). | Luo X et al. | β | 2017 | β |
| Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene. | Desai M et al. | β | 2017 | β |
| Computational analysis, structural modeling and ligand binding site prediction of Plasmodium falciparum 1-deoxy-d-xylulose-5-phosphate synthase. | Goswami AM | β | 2017 | β |
| Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer. | Chandrasekaran G et al. | β | 2017 | β |
| Computational prediction of the phenotypic effects of genetic variants: basic concepts and some application examples in Drosophila nervous system genes. | SΓ‘nchez-Gracia A et al. | β | 2017 | β |
| Computational predictors fail to identify amino acid substitution effects at rheostat positions. | Miller M et al. | β | 2017 | β |
| Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease. | Jamal S et al. | β | 2017 | β |
| Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Ξ5 Steroid Pathway. | Kulle AE et al. | β | 2017 | β |
| Discovery of susceptibility loci associated with tuberculosis in Han Chinese. | Qi H et al. | β | 2017 | β |
| Effects of ADAMTS14 genetic polymorphism and cigarette smoking on the clinicopathologic development of hepatocellular carcinoma. | Sheu MJ et al. | β | 2017 | β |
| Elucidating the Mutational Landscape in Hepatocyte Nuclear Factor 1Ξ² (HNF1B) by Computational Approach. | Sneha P et al. | β | 2017 | β |
| Elucidation of <i>MRAS</i>-mediated Noonan syndrome with cardiac hypertrophy. | Higgins EM et al. | β | 2017 | β |
| Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. | Mukda E et al. | β | 2017 | β |
| Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2). | Fejzo MS et al. | β | 2017 | β |
| Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing. | DU ZF et al. | β | 2017 | β |
| Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2. | Thangaraju K et al. | β | 2017 | β |
| Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma. | Chen X et al. | β | 2017 | β |
| High throughput estimation of functional cell activities reveals disease mechanisms and predicts relevant clinical outcomes. | Hidalgo MR et al. | β | 2017 | β |
| <i>In silico</i> analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene. | Nimir M et al. | β | 2017 | β |
| Impact of genetic variation on three dimensional structure and function of proteins. | Bhattacharya R et al. | β | 2017 | β |
| Impact of germline and somatic missense variations on drug binding sites. | Yan C et al. | β | 2017 | β |
| <i>NPHS2</i> Mutations: A Closer Look to Latin American Countries. | Guaragna MS et al. | β | 2017 | β |
| In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility. | Nailwal M et al. | β | 2017 | β |
| In silico analysis of the deleterious nsSNPs (missense) in the homeobox domain of human HOXB13 gene responsible for hereditary prostate cancer. | Chandrasekaran G et al. | β | 2017 | β |
| Microevolution of bank voles (Myodes glareolus) at neutral and immune-related genes during multiannual dynamic cycles: Consequences for Puumala hantavirus epidemiology. | Dubois A et al. | β | 2017 | β |
| Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype. | Onodera S et al. | β | 2017 | β |
| Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. | AltmΓΌller J et al. | β | 2017 | β |
| Novel UCHL1 mutations reveal new insights into ubiquitin processing. | Rydning SL et al. | β | 2017 | β |
| Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling. | Gallion J et al. | β | 2017 | β |
| Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene. | Dakal TC et al. | β | 2017 | β |
| Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer. | Melo S et al. | β | 2017 | β |
| Prediction of a highly deleterious mutation E17K in AKT-1 gene: An <i>in silico</i> approach. | Khan I et al. | β | 2017 | β |
| Prediction of functionally significant single nucleotide polymorphisms in PTEN tumor suppressor gene: An in silico approach. | Khan I et al. | β | 2017 | β |
| Rare deleterious mutations are associated with disease in bipolar disorder families. | Rao AR et al. | β | 2017 | β |
| Structural and functional effects of nucleotide variation on the human TB drug metabolizing enzyme arylamine N-acetyltransferase 1. | Cloete R et al. | β | 2017 | β |
| Synonymous Codon Usage Controls Various Molecular Aspects. | Im EH et al. | β | 2017 | β |
| Two novel mutations in ZAP70 gene that result in human immunodeficiency. | Llamas-GuillΓ©n BA et al. | β | 2017 | β |
| Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders. | Celestino-Soper PB et al. | β | 2017 | β |
| Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. | Zhou W et al. | β | 2017 | β |
| Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy. | Turkowski KL et al. | β | 2017 | β |
| 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. | Dopazo J et al. | β | 2016 | β |
| A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach. | Abdul Samad F et al. | β | 2016 | β |
| A computational approach to determine susceptibility to cancer by evaluating the deleterious effect of nsSNP in XRCC1 gene on binding interaction of XRCC1 protein with ligase III. | Singh PK et al. | β | 2016 | β |
| A founder mutation p.H701P identified as a major cause of SPG7 in Norway. | Rydning SL et al. | β | 2016 | β |
| A Multilayered Screening Method for the Identification of Regulatory Genes in Rice by Agronomic Traits. | Seol YJ et al. | β | 2016 | β |
| Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. | Volckmar AL et al. | β | 2016 | β |
| A novel variant of androgen receptor is associated with idiopathic azoospermia. | Mou L et al. | β | 2016 | β |
| Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. | Chen DH et al. | β | 2016 | β |
| Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. | Shastri VM et al. | β | 2016 | β |
| Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera. | Lanikova L et al. | β | 2016 | β |
| Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes. | Nagamani S et al. | β | 2016 | β |
| Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. | Bueno R et al. | β | 2016 | β |
| Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. | AudrΓ©zet MP et al. | β | 2016 | β |
| Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor. | Mahmud Z et al. | β | 2016 | β |
| CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women. | RΓΆhrich CR et al. | β | 2016 | β |
| Data Mining and Pattern Recognition Models for Identifying Inherited Diseases: Challenges and Implications. | Iddamalgoda L et al. | β | 2016 | β |
| Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). | Carrera P et al. | β | 2016 | β |
| Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. | Li D et al. | β | 2016 | β |
| Effects of Twelve Germline Missense Variations on DNA Lesion and G-Quadruplex Bypass Activities of Human DNA Polymerase REV1. | Yeom M et al. | β | 2016 | β |
| Evidence for polymorphism in the cytochrome P450 2D50 gene in horses. | Corado CR et al. | β | 2016 | β |
| Forty-eight novel mutations causing biotinidase deficiency. | Procter M et al. | β | 2016 | β |
| Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome. | Li X et al. | β | 2016 | β |
| Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. | Peter B et al. | β | 2016 | β |
| Genetic Diversity and Population Structure of Whitebark Pine (Pinus albicaulis Engelm.) in Western North America. | Liu JJ et al. | β | 2016 | β |
| Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World. | Doss CG et al. | β | 2016 | β |
| Genetics of the human placenta: implications for toxicokinetics. | Gundacker C et al. | β | 2016 | β |
| Genome Sequence Variability Predicts Drug Precautions and Withdrawals from the Market. | Lee KH et al. | β | 2016 | β |
| Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. | Zhang YB et al. | β | 2016 | β |
| Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain. | Jaradat SA et al. | β | 2016 | β |
| HOMCOS: an updated server to search and model complex 3D structures. | Kawabata T | β | 2016 | β |
| Human COL5A1 polymorphisms and quadriceps muscle-tendon mechanical stiffness in vivo. | Kirk EA et al. | β | 2016 | β |
| Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. | Uttarilli A et al. | β | 2016 | β |
| Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure. | M'dimegh S et al. | β | 2016 | β |
| Identification of Genetic Polymorphisms of CYP2W1 in the Three Main Chinese Ethnicities: Han, Tibetan, and Uighur. | Li Y et al. | β | 2016 | β |
| Influence of Gender and SNPs in GPX1 Gene on Biomarkers of Selenium Status in Healthy Brazilians. | Donadio JL et al. | β | 2016 | β |
| In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene. | Akhoundi F et al. | β | 2016 | β |
| In Silico Analysis of FMR1 Gene Missense SNPs. | Tekcan A | β | 2016 | β |
| In silico transcriptional regulation and functional analysis of dengue shock syndrome associated SNPs in PLCE1 and MICB genes. | Taqi MM et al. | β | 2016 | β |
| Investigating the linkage between disease-causing amino acid variants and their effect on protein stability and binding. | Peng Y et al. | β | 2016 | β |
| Mitonuclear Epistasis for Development Time and Its Modification by Diet in Drosophila. | Mossman JA et al. | β | 2016 | β |
| Molecular Characterization and Growth Association of Two Apolipoprotein A-Ib Genes in Common Carp (Cyprinus carpio). | Wang X et al. | β | 2016 | β |
| Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. | Togawa T et al. | β | 2016 | β |
| Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene. | Felhi R et al. | β | 2016 | β |
| Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861AΒ >Β C mitochondrial mutation in the MT-ND1 gene. | Ammar M et al. | β | 2016 | β |
| Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts. | Chen JH et al. | β | 2016 | β |
| Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. | LΓΌhl S et al. | β | 2016 | β |
| NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. | Guaragna MS et al. | β | 2016 | β |
| One SNP at a Time: Moving beyond GWAS in Psoriasis. | Ray-Jones H et al. | β | 2016 | β |
| PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation. | Tang H et al. | β | 2016 | β |
| PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. | Bendl J et al. | β | 2016 | β |
| Protein Destabilization as a Common Factor in Diverse Inherited Disorders. | Redler RL et al. | β | 2016 | β |
| PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders. | Johnston SB et al. | β | 2016 | β |
| Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin. | Kleinberger G et al. | β | 2016 | β |
| Single nucleotide polymorphisms in DNA repair genes and putative cancer risk. | KΓΆberle B et al. | β | 2016 | β |
| Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis. | Gorski MM et al. | β | 2016 | β |
| Structural insights and functional implications of inter-individual variability in Ξ²2-adrenergic receptor. | Tandale A et al. | β | 2016 | β |
| Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. | Tang H et al. | β | 2016 | β |
| Unraveling the Deleterious Effects of Cancer-Driven STK11 Mutants Through Conformational Sampling Approach. | Lopus M et al. | β | 2016 | β |
| Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. | Wang H et al. | β | 2016 | β |
| Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data. | Ghosh A et al. | β | 2016 | β |
| ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. | Chen DH et al. | β | 2015 | β |
| Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis. | So CC et al. | β | 2015 | β |
| Amino acid positions subject to multiple coevolutionary constraints can be robustly identified by their eigenvector network centrality scores. | Parente DJ et al. | β | 2015 | β |
| A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. | Morino H et al. | β | 2015 | β |
| Analysis of genetic variation and potential applications in genome-scale metabolic modeling. | Cardoso JG et al. | β | 2015 | β |
| Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. | Usher JL et al. | β | 2015 | β |
| A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. | Wang Q et al. | β | 2015 | β |
| Assessing the impact of mutations found in next generation sequencing data over human signaling pathways. | Hernansaiz-Ballesteros RD et al. | β | 2015 | β |
| Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women. | Jin HS et al. | β | 2015 | β |
| Babelomics 5.0: functional interpretation for new generations of genomic data. | Alonso R et al. | β | 2015 | β |
| Bioinformatics tools for discovery and functional analysis of single nucleotide polymorphisms. | Li L et al. | β | 2015 | β |
| Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | Park H et al. | β | 2015 | β |
| CCI-779 (Temsirolimus) exhibits increased anti-tumor activity in low EGFR expressing HNSCC cell lines and is effective in cells with acquired resistance to cisplatin or cetuximab. | Niehr F et al. | β | 2015 | β |
| CoagVDb: a comprehensive database for coagulation factors and their associated SAPs. | Ali SK et al. | β | 2015 | β |
| Common single nucleotide variants underlying drug addiction: more than a decade of research. | BΓΌhler KM et al. | β | 2015 | β |
| Computational approaches to study the effects of small genomic variations. | Khafizov K et al. | β | 2015 | β |
| Cytochrome P450 2C9 (CYP2C9) polymorphisms in Chinese Li population. | Ding Y et al. | β | 2015 | β |
| De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. | Popp B et al. | β | 2015 | β |
| Development of forensic assay signatures for ebolaviruses. | Song J et al. | β | 2015 | β |
| Discovery of Genetic Variants of the Kinases That Activate Tenofovir in a Compartment-specific Manner. | Lade JM et al. | β | 2015 | β |
| Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease. | Manjegowda DS et al. | β | 2015 | β |
| Evaluation of Oxidative Stress Response Related Genetic Variants, Pro-oxidants, Antioxidants and Prostate Cancer. | Lavender N et al. | β | 2015 | β |
| Evidence for genes controlling resistance to Heligmosomoides bakeri on mouse chromosome 1. | Noyes H et al. | β | 2015 | β |
| Evolutionary Diagnosis of non-synonymous variants involved in differential drug response. | Gerek NZ et al. | β | 2015 | β |
| fabp4 is central to eight obesity associated genes: a functional gene network-based polymorphic study. | Bag S et al. | β | 2015 | β |
| False discovery rates for rare variants from sequenced data. | Capanu M et al. | β | 2015 | β |
| Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia. | De Fanti S et al. | β | 2015 | β |
| Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias. | SΓΆderhΓ€ll C et al. | β | 2015 | β |
| Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2. | Volckmar AL et al. | β | 2015 | β |
| Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL. | Datta A et al. | β | 2015 | β |
| Functional Validation of Rare Human Genetic Variants Involved in Homologous Recombination Using Saccharomyces cerevisiae. | Lee MS et al. | β | 2015 | β |
| Genetic association between methylenetetrahydrofolate reductase gene polymorphism and risk of osteonecrosis of the femoral head. | Chai W et al. | β | 2015 | β |
| GESPA: classifying nsSNPs to predict disease association. | Khurana JK et al. | β | 2015 | β |
| Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. | Wang SR et al. | β | 2015 | β |
| HMMvar-func: a new method for predicting the functional outcome of genetic variants. | Liu M et al. | β | 2015 | β |
| Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. | Liu B et al. | β | 2015 | β |
| Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. | Erzurumluoglu AM et al. | β | 2015 | β |
| IL-10 and IL-17F Promoter Single Nucleotide Polymorphism and Asthma: A Case-Control Study in South India. | Raeiszadeh Jahromi S et al. | β | 2015 | β |
| Improved feature-based prediction of SNPs in human cytochrome P450 enzymes. | Li L et al. | β | 2015 | β |
| In silico Evaluation of Nonsynonymous Single Nucleotide Polymorphisms in the ADIPOQ Gene Associated with Diabetes, Obesity, and Inflammation. | Narayana Swamy A et al. | β | 2015 | β |
| In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis. | Monteagudo LV et al. | β | 2015 | β |
| <i>SPG11</i> Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia. | Wijemanne S et al. | β | 2015 | β |
| Mitochondrial mutations in subjects with psychiatric disorders. | Sequeira A et al. | β | 2015 | β |
| Molecular characterization and expression of three preprosomatostatin genes and their association with growth in common carp (Cyprinus carpio). | Feng X et al. | β | 2015 | β |
| MTHFR-Ala222Val and male infertility: a study in Iranian men, an updated meta-analysis and an in silico-analysis. | Nikzad H et al. | β | 2015 | β |
| Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability. | Duraturo F et al. | β | 2015 | β |
| Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. | Park H et al. | β | 2015 | β |
| Mutation analysis of Leber congenital amaurosisβassociated genes in patients with retinitis pigmentosa. | Shen T et al. | β | 2015 | β |
| Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. | Guindalini RS et al. | β | 2015 | β |
| New Mutations of the ID1 Gene in Acute Myeloid Leukemia Patients. | Tochareontanaphol C et al. | β | 2015 | β |
| NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. | Yoon CW et al. | β | 2015 | β |
| Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. | Uttarilli A et al. | β | 2015 | β |
| NPHS2 mutations account for only 15% of nephrotic syndrome cases. | Guaragna MS et al. | β | 2015 | β |
| Practical Calling Approach for Exome Array-Based Genome-Wide Association Studies in Korean Population. | Park TJ et al. | β | 2015 | β |
| Predicting the combined effect of multiple genetic variants. | Liu M et al. | β | 2015 | β |
| Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity. | Schweitzer GG et al. | β | 2015 | β |
| Risperidone-associated adverse drug reactions and CYP2D6 polymorphisms in a South African cohort. | Dodgen TM et al. | β | 2015 | β |
| SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures. | Wang D et al. | β | 2015 | β |
| Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. | Nakagawa K et al. | β | 2015 | β |
| Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. | Durinck S et al. | β | 2015 | β |
| Structural Integrity of the A147T Polymorph of Mammalian TSPO. | Jaremko M et al. | β | 2015 | β |
| Structural modeling and in silico analysis of non-synonymous single nucleotide polymorphisms of human 3Ξ²-hydroxysteroid dehydrogenase type 2. | Goswami AM | β | 2015 | β |
| Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. | Gao L et al. | β | 2015 | β |
| The ARVD/C genetic variants database: 2014 update. | Lazzarini E et al. | β | 2015 | β |
| The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs. | Monteagudo LV et al. | β | 2015 | β |
| The functional relevance of somatic synonymous mutations in melanoma and other cancers. | Gotea V et al. | β | 2015 | β |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. | Scuderi C et al. | β | 2015 | β |
| Unc-51 like kinase 1 (ULK1) in silico analysis for biomarker identification: a vital component of autophagy. | Randhawa R et al. | β | 2015 | β |
| Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. | Fan ZC et al. | β | 2015 | β |
| A comprehensive evaluation of collapsing methods using simulated and real data: excellent annotation of functionality and large sample sizes required. | Dering C et al. | β | 2014 | β |
| A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene. | MarΓn-MartΓn FR et al. | β | 2014 | β |
| A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population. | Ham S et al. | β | 2014 | β |
| A new role for the nonpathogenic nonsynonymous single-nucleotide polymorphisms of acetylcholinesterase in the treatment of Alzheimer's disease: a computational study. | Saravanaraman P et al. | β | 2014 | β |
| An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex. | Doss CG et al. | β | 2014 | β |
| Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis. | Briggs FB et al. | β | 2014 | β |
| A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. | King DA et al. | β | 2014 | β |
| A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy. | Mkaouar-Rebai E et al. | β | 2014 | β |
| Application of evolutionary based in silico methods to predict the impact of single amino acid substitutions in vitelliform macular dystrophy. | George Priya Doss C et al. | β | 2014 | β |
| AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. | Akcay T et al. | β | 2014 | β |
| Association between MSH6 G39E polymorphism and cancer susceptibility: a meta-analysis of 7,046 cases and 34,554 controls. | Li Z et al. | β | 2014 | β |
| Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population. | Yang J et al. | β | 2014 | β |
| A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. | AlemΓ‘n A et al. | β | 2014 | β |
| A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications. | AlemΓ‘n A et al. | β | 2014 | β |
| Bench-top sequencing and clinical implementation: diagnostics and biomarkers challenges. | Bechlioulis A et al. | β | 2014 | β |
| Biochemical analysis of six genetic variants of error-prone human DNA polymerase ΞΉ involved in translesion DNA synthesis. | Kim J et al. | β | 2014 | β |
| Biochemical characterization of eight genetic variants of human DNA polymerase ΞΊ involved in error-free bypass across bulky N(2)-guanyl DNA adducts. | Song I et al. | β | 2014 | β |
| BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan. | Biunno I et al. | β | 2014 | β |
| Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. | Kurian AW et al. | β | 2014 | β |
| Combination use of protein-protein interaction network topological features improves the predictive scores of deleterious non-synonymous single-nucleotide polymorphisms. | Wu Y et al. | β | 2014 | β |
| Combined sequence and sequence-structure-based methods for analyzing RAAS gene SNPs: a computational approach. | Singh KhD et al. | β | 2014 | β |
| Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations. | BΓ©ziau DM et al. | β | 2014 | β |
| Computational approaches and resources in single amino acid substitutions analysis toward clinical research. | George Priya Doss C et al. | β | 2014 | β |
| Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency. | Magesh R et al. | β | 2014 | β |
| Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene. | Chitrala KN et al. | β | 2014 | β |
| Computational SNP analysis: current approaches and future prospects. | Kumar A et al. | β | 2014 | β |
| Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. | Espinosa O et al. | β | 2014 | β |
| Discovery and refinement of muscle weight QTLs in B6 Γ D2 advanced intercross mice. | Carbonetto P et al. | β | 2014 | β |
| Distinct role of CD86 polymorphisms (rs1129055, rs17281995) in risk of cancer: evidence from a meta-analysis. | Geng P et al. | β | 2014 | β |
| Dravet syndrome--from epileptic encephalopathy to channelopathy. | Brunklaus A et al. | β | 2014 | β |
| EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome. | Zeng S et al. | β | 2014 | β |
| Enhancing the incidental pipeline in genomic sequencing. | Solomon BD | β | 2014 | β |
| Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. | Mills PB et al. | β | 2014 | β |
| Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1. | Dowty JG et al. | β | 2014 | β |
| Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease. | Okou DT et al. | β | 2014 | β |
| Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. | Morino H et al. | β | 2014 | β |
| First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene. | Mohamoud HS et al. | β | 2014 | β |
| Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair. | Wielders EA et al. | β | 2014 | β |
| Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. | Salian-Mehta S et al. | β | 2014 | β |
| Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling. | Liu Y et al. | β | 2014 | β |
| Gene structure and spatio-temporal expression of chicken LPIN2. | Zhang C et al. | β | 2014 | β |
| Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1. | Lee DM et al. | β | 2014 | β |
| Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene. | Phani NM et al. | β | 2014 | β |
| Genomic convergence and network analysis approach to identify candidate genes in Alzheimer's disease. | Talwar P et al. | β | 2014 | β |
| High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients. | Masaki T et al. | β | 2014 | β |
| Human testis-specific genes are under relaxed negative selection. | Pierron D et al. | β | 2014 | β |
| Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. | Sassi A et al. | β | 2014 | β |
| Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans. | Singaraja RR et al. | β | 2014 | β |
| In silico analysis of functional single nucleotide polymorphisms in the human TRIM22 gene. | Kelly JN et al. | β | 2014 | β |
| In silico analysis of single nucleotide polymorphism (SNP) in human TNF-Ξ± gene. | Dabhi B et al. | β | 2014 | β |
| Integrated analysis of mutation data from various sources identifies key genes and signaling pathways in hepatocellular carcinoma. | Zhang Y et al. | β | 2014 | β |
| KIT and melanoma predisposition in pigs: sequence variants and association analysis. | FernΓ‘ndez-RodrΓguez A et al. | β | 2014 | β |
| LIG1 polymorphisms: the Indian scenario. | Mitra AK et al. | β | 2014 | β |
| MBASED: allele-specific expression detection in cancer tissues and cell lines. | Mayba O et al. | β | 2014 | β |
| Molecular docking and molecular dynamics study on the effect of ERCC1 deleterious polymorphisms in ERCC1-XPF heterodimer. | Priya Doss CG et al. | β | 2014 | β |
| Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. | Brusius-Facchin AC et al. | β | 2014 | β |
| Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. | Bafunno V et al. | β | 2014 | β |
| Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity. | Zegers D et al. | β | 2014 | β |
| Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment. | Stenzinger A et al. | β | 2014 | β |
| Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. | Kambouris M et al. | β | 2014 | β |
| Non-synonymous variations in cancer and their effects on the human proteome: workflow for NGS data biocuration and proteome-wide analysis of TCGA data. | Cole C et al. | β | 2014 | β |
| Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. | Jeong C et al. | β | 2014 | β |
| Novel CYP2A6 variants identified in African Americans are associated with slow nicotine metabolism in vitro and in vivo. | Piliguian M et al. | β | 2014 | β |
| Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4. | Zhang W et al. | β | 2014 | β |
| Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. | Ankleshwaria C et al. | β | 2014 | β |
| Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. | Obeidova L et al. | β | 2014 | β |
| Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. | Chen J et al. | β | 2014 | β |
| PDGFRA alterations in cancer: characterization of a gain-of-function V536E transmembrane mutant as well as loss-of-function and passenger mutations. | Velghe AI et al. | β | 2014 | β |
| Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. | Raimondo A et al. | β | 2014 | β |
| Plasma cholesterol-induced lesion networks activated before regression of early, mature, and advanced atherosclerosis. | BjΓΆrkegren JL et al. | β | 2014 | β |
| Prediction and prioritization of rare oncogenic mutations in the cancer Kinome using novel features and multiple classifiers. | U M et al. | β | 2014 | β |
| PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. | Bendl J et al. | β | 2014 | β |
| Quantitative prediction of the effect of genetic variation using hidden Markov models. | Liu M et al. | β | 2014 | β |
| Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. | Kavvoura FK et al. | β | 2014 | β |
| Refined mapping of a hypertension susceptibility locus on rat chromosome 12. | Prisco SZ et al. | β | 2014 | β |
| Relative exchangeable copper: a promising tool for family screening in Wilson disease. | Trocello JM et al. | β | 2014 | β |
| Single nucleotide variations: biological impact and theoretical interpretation. | Katsonis P et al. | β | 2014 | β |
| SPACA3 gene variants in a New Zealand cohort of infertile and fertile couples. | Prendergast D et al. | β | 2014 | β |
| Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. | Wedding IM et al. | β | 2014 | β |
| Structural and functional in silico analysis of LRRK2 missense substitutions. | Cardona F et al. | β | 2014 | β |
| Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. | Zhang K et al. | β | 2014 | β |
| Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. | Couthouis J et al. | β | 2014 | β |
| Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm. | Stenzinger A et al. | β | 2014 | β |
| The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer. | Christou CM et al. | β | 2014 | β |
| The mutational spectrum of squamous-cell carcinoma of the head and neck: targetable genetic events and clinical impact. | Mountzios G et al. | β | 2014 | β |
| The role of the interactome in the maintenance of deleterious variability in human populations. | Garcia-Alonso L et al. | β | 2014 | β |
| Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. | Brun F et al. | β | 2014 | β |
| Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. | Bali DS et al. | β | 2014 | β |
| WNT10A mutations account for ΒΌ of population-based isolated oligodontia and show phenotypic correlations. | Arzoo PS et al. | β | 2014 | β |
| X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. | Shahrizaila N et al. | β | 2014 | β |
| Adaptive clustering and adaptive weighting methods to detect disease associated rare variants. | Sha Q et al. | β | 2013 | β |
| A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. | Wang JC et al. | β | 2013 | β |
| A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions. | Mezghani N et al. | β | 2013 | β |
| An In Silico Evaluation of Deleterious Nonsynonymous Single Nucleotide Polymorphisms in the ErbB3 Oncogene. | Raghav D et al. | β | 2013 | β |
| An integrated diagnosis strategy for congenital myopathies. | BΓΆhm J et al. | β | 2013 | β |
| An Italian cohort study identifies four new pathologic mutations in the ARSA gene. | Galla D et al. | β | 2013 | β |
| A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis. | Kim J et al. | β | 2013 | β |
| A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. | Zhao X et al. | β | 2013 | β |
| A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. | Kong XF et al. | β | 2013 | β |
| A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. | Kim YE et al. | β | 2013 | β |
| A novel mutation in COQ2 leading to fatal infantile multisystem disease. | Jakobs BS et al. | β | 2013 | β |
| Antithrombin Rybnik: a new point mutation (nt 683 G>T) associated with type I antithrombin deficiency in a patient with venous thromboembolism and recurrent superficial venous thrombosis. | SzymaΕska M et al. | β | 2013 | β |
| Association of co-stimulatory human B-lymphocyte antigen B7-2 (CD86) gene polymorphism with colorectal cancer risk. | Azimzadeh P et al. | β | 2013 | β |
| Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). | Underhill HR et al. | β | 2013 | β |
| ATR-FTIR spectroscopy reveals genomic loci regulating the tissue response in high fat diet fed BXD recombinant inbred mouse strains. | Dogan A et al. | β | 2013 | β |
| A variant in the LRRFIP1 gene is associated with adiposity and inflammation. | Plourde M et al. | β | 2013 | β |
| Bioinformatic perspectives in the neuronal ceroid lipofuscinoses. | Kmoch S et al. | β | 2013 | β |
| BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. | Lindor NM et al. | β | 2013 | β |
| BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study. | Ricks-Santi LJ et al. | β | 2013 | β |
| Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. | Miller KA et al. | β | 2013 | β |
| Censored Data Analysis Reveals Effects of Age and Hepatitis C Infection on C-Reactive Protein Levels in Healthy Adult Chimpanzees (Pan troglodytes). | Ely JJ et al. | β | 2013 | β |
| Chapter 15: disease gene prioritization. | Bromberg Y | β | 2013 | β |
| Characterization of the genetic variation present in CYP3A4 in three South African populations. | DrΓΆgemΓΆller B et al. | β | 2013 | β |
| Chitotriosidase deficiency: a mutation update in an african population. | Arndt S et al. | β | 2013 | β |
| CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. | Terui H et al. | β | 2013 | β |
| Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations. | Faletra F et al. | β | 2013 | β |
| Collective judgment predicts disease-associated single nucleotide variants. | Capriotti E et al. | β | 2013 | β |
| Complementation test of Rpe65 knockout and tvrm148. | Wright CB et al. | β | 2013 | β |
| Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations. | Yuan W et al. | β | 2013 | β |
| Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. | Faletra F et al. | β | 2013 | β |
| Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. | BΓΆhm J et al. | β | 2013 | β |
| Conundrum of sudden cardiac death: making sense of missense. | Ip JE et al. | β | 2013 | β |
| Current relaxation of selection on the human genome: tolerance of deleterious mutations on olfactory receptors. | Pierron D et al. | β | 2013 | β |
| Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods. | Hao DC et al. | β | 2013 | β |
| De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). | Karle KN et al. | β | 2013 | β |
| Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. | Hinks A et al. | β | 2013 | β |
| Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. | Paparo L et al. | β | 2013 | β |
| Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. | Schild R et al. | β | 2013 | β |
| DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. | Zhu F et al. | β | 2013 | β |
| Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae. | Spugnesi L et al. | β | 2013 | β |
| Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies. | Nguyen KD et al. | β | 2013 | β |
| Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. | Neumann HP et al. | β | 2013 | β |
| Epistatic study reveals two genetic interactions in blood pressure regulation. | Ndiaye NC et al. | β | 2013 | β |
| Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis. | Masoodi TA et al. | β | 2013 | β |
| Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications. | Tarazona-Santos E et al. | β | 2013 | β |
| Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. | Carsana A | β | 2013 | β |
| Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. | Yourshaw M et al. | β | 2013 | β |
| Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes. | Tanisawa K et al. | β | 2013 | β |
| Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes. | Masoodi TA et al. | β | 2013 | β |
| Exploration of deleterious single nucleotide polymorphisms in the components of human P bodies: an in silico approach. | Venkatesh T et al. | β | 2013 | β |
| Exploring functional variant discovery in non-coding regions with SInBaD. | Lehmann KV et al. | β | 2013 | β |
| Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach. | George Priya Doss C et al. | β | 2013 | β |
| Female-specific hypertension loci on rat chromosome 13. | Hoffman MJ et al. | β | 2013 | β |
| Forensic signatures for Marburgviruses. | Song J et al. | β | 2013 | β |
| FSH receptor gene variants are rarely associated with premature ovarian failure. | Woad KJ et al. | β | 2013 | β |
| Functional consequences of a novel variant of PCSK1. | Pickett LA et al. | β | 2013 | β |
| Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk. | Liu AY et al. | β | 2013 | β |
| Gene Γ smoking interactions on human brain gene expression: finding common mechanisms in adolescents and adults. | Wolock SL et al. | β | 2013 | β |
| Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone. | Beauregard M et al. | β | 2013 | β |
| Genetic basis of the impaired renal myogenic response in FHH rats. | Burke M et al. | β | 2013 | β |
| Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. | Qi XP et al. | β | 2013 | β |
| Genomic differences between cultivated soybean, G. max and its wild relative G. soja. | Joshi T et al. | β | 2013 | β |
| Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system. | DomenΓ© HM et al. | β | 2013 | β |
| Human thromboxane A2 receptor genetic variants: in silico, in vitro and "in platelet" analysis. | Gleim S et al. | β | 2013 | β |
| Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento. | Ma L et al. | β | 2013 | β |
| Identification of deleterious synonymous variants in human genomes. | Buske OJ et al. | β | 2013 | β |
| Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases. | Spinelli R et al. | β | 2013 | β |
| Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma. | Seo S et al. | β | 2013 | β |
| Identification of two paralogous caprine CD36 genes that display highly divergent mRNA expression profiles. | Zidi A et al. | β | 2013 | β |
| Identifying novel oncogenes: a machine learning approach. | Kumar A et al. | β | 2013 | β |
| Identifying rare variants associated with complex traits via sequencing. | Li B et al. | β | 2013 | β |
| Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data. | Bakir-Gungor B et al. | β | 2013 | β |
| Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. | Vasli N et al. | β | 2013 | β |
| In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity. | Doss CG et al. | β | 2013 | β |
| Interaction between Ξ³-aminobutyric acid A receptor genes: new evidence in migraine susceptibility. | Quintas M et al. | β | 2013 | β |
| Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes. | Allione A et al. | β | 2013 | β |
| Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study. | Dodgen TM et al. | β | 2013 | β |
| Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. | Raczy C et al. | β | 2013 | β |
| Knowledge discovery in variant databases using inductive logic programming. | Nguyen H et al. | β | 2013 | β |
| Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. | Marin SE et al. | β | 2013 | β |
| Leucine to proline substitution by SNP at position 197 in Caspase-9 gene expression leads to neuroblastoma: a bioinformatics analysis. | Kundu A et al. | β | 2013 | β |
| Leveraging prior information to detect causal variants via multi-variant regression. | Long N et al. | β | 2013 | β |
| Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. | Kotlarz D et al. | β | 2013 | β |
| Matrix gla protein gene polymorphism is associated with increased coronary artery calcification progression. | Cassidy-Bushrow AE et al. | β | 2013 | β |
| Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. | Kalfa N et al. | β | 2013 | β |
| Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E et al. | β | 2013 | β |
| Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients. | Kumar M et al. | β | 2013 | β |
| Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. | Uchida S et al. | β | 2013 | β |
| Molecular and structural analysis of genetic variations in congenital cataract. | Kumar M et al. | β | 2013 | β |
| Molecular basis of quantitative fibrinogen disorders in 27 patients from India. | Sumitha E et al. | β | 2013 | β |
| Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. | Doucette L et al. | β | 2013 | β |
| Molecular mechanisms of disease-causing missense mutations. | Stefl S et al. | β | 2013 | β |
| Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. | Laraqui A et al. | β | 2013 | β |
| Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis. | Boudin E et al. | β | 2013 | β |
| Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. | Mendola A et al. | β | 2013 | β |
| Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. | Poirier K et al. | β | 2013 | β |
| No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders. | Boudin E et al. | β | 2013 | β |
| NOTCH3 variants and risk of ischemic stroke. | Ross OA et al. | β | 2013 | β |
| Novel CDH1 germline mutations identified in Chinese gastric cancer patients. | Chen QH et al. | β | 2013 | β |
| Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population. | Hu F et al. | β | 2013 | β |
| Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families. | Mollaki V et al. | β | 2013 | β |
| Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. | Siebert M et al. | β | 2013 | β |
| Nucleotide variation in IL-10 and IL-12 and their receptors and cervical and vulvar cancer risk: a hybrid case-parent triad and case-control study. | Hussain SK et al. | β | 2013 | β |
| Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases. | Chan AO | β | 2013 | β |
| Phenotype versus genotype methods for copy number variant analysis of glutathione S-transferases M1. | Piacentini S et al. | β | 2013 | β |
| Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy. | Preissner SC et al. | β | 2013 | β |
| Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. | Litim N et al. | β | 2013 | β |
| Predicting the functional consequences of cancer-associated amino acid substitutions. | Shihab HA et al. | β | 2013 | β |
| Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. | Shihab HA et al. | β | 2013 | β |
| Predicting the impact of single-nucleotide polymorphisms in CDK2-flavopiridol complex by molecular dynamics analysis. | Nagasundaram N et al. | β | 2013 | β |
| Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. | Wu J et al. | β | 2013 | β |
| Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP. | Johansen MB et al. | β | 2013 | β |
| Prediction of phenotypes of missense mutations in human proteins from biological assemblies. | Wei Q et al. | β | 2013 | β |
| Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. | Li D et al. | β | 2013 | β |
| Profiling deleterious non-synonymous SNPs of smoker's gene CYP1A1. | Ramesh AS et al. | β | 2013 | β |
| Proteins and domains vary in their tolerance of non-synonymous single nucleotide polymorphisms (nsSNPs). | Yates CM et al. | β | 2013 | β |
| Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways. | Kerner B et al. | β | 2013 | β |
| Rare variants in PLXNA4 and Parkinson's disease. | Schulte EC et al. | β | 2013 | β |
| Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. | Haywood AF et al. | β | 2013 | β |
| Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin. | Nekhai S et al. | β | 2013 | β |
| Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. | Vivante A et al. | β | 2013 | β |
| Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach. | Kumar A et al. | β | 2013 | β |
| Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. | Huang L et al. | β | 2013 | β |
| Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. | Goyal M et al. | β | 2013 | β |
| Selective constraint, background selection, and mutation accumulation variability within and between human populations. | Hodgkinson A et al. | β | 2013 | β |
| Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study. | Kim J et al. | β | 2013 | β |
| SERPINA2 is a novel gene with a divergent function from SERPINA1. | Marques PI et al. | β | 2013 | β |
| Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. | McCarthy HJ et al. | β | 2013 | β |
| SNVDis: a proteome-wide analysis service for evaluating nsSNVs in protein functional sites and pathways. | Karagiannis K et al. | β | 2013 | β |
| Status quo of annotation of human disease variants. | Venselaar H et al. | β | 2013 | β |
| Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis. | Moreira LG et al. | β | 2013 | β |
| Structural dynamics flexibility informs function and evolution at a proteome scale. | Nevin Gerek Z et al. | β | 2013 | β |
| Structure-function studies on non-synonymous SNPs of chemokine receptor gene implicated in cardiovascular disease: a computational approach. | Sai Ramesh A et al. | β | 2013 | β |
| Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation. | Papadakis M et al. | β | 2013 | β |
| Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | Shao J et al. | β | 2013 | β |
| The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity. | Rhein C et al. | β | 2013 | β |
| The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions. | Yates CM et al. | β | 2013 | β |
| The genomic signature of trait-associated variants. | Kindt AS et al. | β | 2013 | β |
| The identification of pathway markers in intracranial aneurysm using genome-wide association data from two different populations. | Bakir-Gungor B et al. | β | 2013 | β |
| The role of balanced training and testing data sets for binary classifiers in bioinformatics. | Wei Q et al. | β | 2013 | β |
| The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. | Germeshausen M et al. | β | 2013 | β |
| Towards precision medicine: advances in computational approaches for the analysis of human variants. | Peterson TA et al. | β | 2013 | β |
| Type of PKD1 mutation influences renal outcome in ADPKD. | Cornec-Le Gall E et al. | β | 2013 | β |
| Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. | Akizu N et al. | β | 2013 | β |
| wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases. | Izarzugaza JM et al. | β | 2013 | β |
| WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation. | Capriotti E et al. | β | 2013 | β |
| Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. | Panizza E et al. | β | 2013 | β |
| A combined functional annotation score for non-synonymous variants. | Lopes MC et al. | β | 2012 | β |
| A computational framework for boosting confidence in high-throughput protein-protein interaction datasets. | Hosur R et al. | β | 2012 | β |
| A Multilocus Sequence Typing System (MLST) reveals a high level of diversity and a genetic component to Entamoeba histolytica virulence. | Gilchrist CA et al. | β | 2012 | β |
| An 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28. | Owen DR et al. | β | 2012 | β |
| Analysis of IL28B variants in an Egyptian population defines the 20 kilobases minimal region involved in spontaneous clearance of hepatitis C virus. | Pedergnana V et al. | β | 2012 | β |
| Analysis of multiple polymorphisms in the bovine neuropeptide Y5 receptor gene and structural modelling of the encoded protein. | Alam T et al. | β | 2012 | β |
| Analyzing effects of naturally occurring missense mutations. | Zhang Z et al. | β | 2012 | β |
| An association between polymorphism of the heme oxygenase-1 and -2 genes and age-related macular degeneration. | Synowiec E et al. | β | 2012 | β |
| A novel c.2TΒ >Β C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. | Ounap K et al. | β | 2012 | β |
| A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. | Bergman JE et al. | β | 2012 | β |
| A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. | GimΓ©nez C et al. | β | 2012 | β |
| A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. | Al-Haggar M et al. | β | 2012 | β |
| A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression. | KeckareviΔ D et al. | β | 2012 | β |
| A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia. | Chahil JK et al. | β | 2012 | β |
| An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. | Uchiyama T et al. | β | 2012 | β |
| A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | Drost M et al. | β | 2012 | β |
| A Single Nucleotide Polymorphism in the Phospholipase D1 Gene is Associated with Risk of Non-Small Cell Lung Cancer. | Ahn MJ et al. | β | 2012 | β |
| Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. | Chen YZ et al. | β | 2012 | β |
| Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. | AudrΓ©zet MP et al. | β | 2012 | β |
| A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers. | Natrajan R et al. | β | 2012 | β |
| BCL2 mutations in diffuse large B-cell lymphoma. | Schuetz JM et al. | β | 2012 | β |
| Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. | Gallant NM et al. | β | 2012 | β |
| Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | β | 2012 | β |
| Bioinformatics for personal genome interpretation. | Capriotti E et al. | β | 2012 | β |
| BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. | Keshavarzi F et al. | β | 2012 | β |
| BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants. | Tazzite A et al. | β | 2012 | β |
| Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis. | Du L et al. | β | 2012 | β |
| Characteristics of intracranial aneurysms in the else krΓΆner-fresenius registry of autosomal dominant polycystic kidney disease. | Neumann HP et al. | β | 2012 | β |
| Chinese children with chronic intrahepatic cholestasis and high Ξ³-glutamyl transpeptidase: clinical features and association with ABCB4 mutations. | Fang LJ et al. | β | 2012 | β |
| Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy. | Kumar M et al. | β | 2012 | β |
| Clinical implications of human population differences in genome-wide rates of functional genotypes. | Torkamani A et al. | β | 2012 | β |
| Coinheritance of three novel FV gene mutations in a patient with a severe FV deficiency. | Bafunno V et al. | β | 2012 | β |
| Common mutation underlying primary hyperoxaluria type1 in three Indian children. | Chanchlani R et al. | β | 2012 | β |
| Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. | Rudin CM et al. | β | 2012 | β |
| Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease. | Sreevishnupriya K et al. | β | 2012 | β |
| Computational investigation of pathogenic nsSNPs in CEP63 protein. | Kumar A et al. | β | 2012 | β |
| Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. | Magesh R et al. | β | 2012 | β |
| Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. | George Priya Doss C et al. | β | 2012 | β |
| Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting. | Crockett DK et al. | β | 2012 | β |
| Co-occurrence of Marfan syndrome and schizophrenia: what can be learned? | Van Den Bossche MJ et al. | β | 2012 | β |
| Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. | Zhang X et al. | β | 2012 | β |
| Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. | Rees MG et al. | β | 2012 | β |
| Coupled mutation finder: a new entropy-based method quantifying phylogenetic noise for the detection of compensatory mutations. | GΓΌltas M et al. | β | 2012 | β |
| CYP-nsSNP: a specialized database focused on effect of non-synonymous SNPs on function of CYPs. | Zhang T et al. | β | 2012 | β |
| Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation. | Warren LL et al. | β | 2012 | β |
| Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. | Rubio JP et al. | β | 2012 | β |
| Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. | Lopez-Herrera G et al. | β | 2012 | β |
| De novo mutations in human genetic disease. | Veltman JA et al. | β | 2012 | β |
| Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. | Caputo S et al. | β | 2012 | β |
| Detecting and annotating genetic variations using the HugeSeq pipeline. | Lam HY et al. | β | 2012 | β |
| Detecting rare variants. | Feng T et al. | β | 2012 | β |
| Detection of RNA editing events in human cells using high-throughput sequencing. | Chepelev I | β | 2012 | β |
| Discovery and Evaluation of Polymorphisms in the AKT2 and AKT3 Promoter Regions for Risk of Korean Lung Cancer. | Sung JS et al. | β | 2012 | β |
| Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder. | Vacic V et al. | β | 2012 | β |
| DLB and PDD: a role for mutations in dementia and Parkinson disease genes? | Meeus B et al. | β | 2012 | β |
| Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human. | Ichimura A et al. | β | 2012 | β |
| Evidence for involvement of GNB1L in autism. | Chen YZ et al. | β | 2012 | β |
| Evidence for selection at cytokine loci in a natural population of field voles (Microtus agrestis). | Turner AK et al. | β | 2012 | β |
| Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene. | Carnero-Montoro E et al. | β | 2012 | β |
| Evolutionary conservation and disease gene association of the human genes composing pseudogenes. | Sen K et al. | β | 2012 | β |
| Evolution of functionally diverse alleles associated with PTC bitter taste sensitivity in Africa. | Campbell MC et al. | β | 2012 | β |
| Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family. | Reddy MV et al. | β | 2012 | β |
| Exome sequencing in a family with restless legs syndrome. | Weissbach A et al. | β | 2012 | β |
| Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. | Zang ZJ et al. | β | 2012 | β |
| Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. | Maubec E et al. | β | 2012 | β |
| Fbxw7 regulates Notch to control specification of neural precursors for oligodendrocyte fate. | Snyder JL et al. | β | 2012 | β |
| Functional analyses of RET mutations in Chinese Hirschsprung disease patients. | Leon TY et al. | β | 2012 | β |
| Functional analysis of human thromboxane synthase polymorphic variants. | Chen CY et al. | β | 2012 | β |
| Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels. | El Shamieh S et al. | β | 2012 | β |
| Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies. | Masoodi TA et al. | β | 2012 | β |
| Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. | Glamuzina E et al. | β | 2012 | β |
| Genetics of nonsyndromic orofacial clefts. | Rahimov F et al. | β | 2012 | β |
| Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han. | Zhang X et al. | β | 2012 | β |
| Genetic variations of the MCT4 (SLC16A3) gene in the Chinese and Indian populations of Singapore. | Lean CB et al. | β | 2012 | β |
| Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events. | Liu J et al. | β | 2012 | β |
| Genome-wide SNP and microsatellite variation illuminate population-level epidemiology in the Leishmania donovani species complex. | Downing T et al. | β | 2012 | β |
| Genomic basis of aging and life-history evolution in Drosophila melanogaster. | Remolina SC et al. | β | 2012 | β |
| Germline mutations in HOXB13 and prostate-cancer risk. | Ewing CM et al. | β | 2012 | β |
| Hansa: an automated method for discriminating disease and neutral human nsSNPs. | Acharya V et al. | β | 2012 | β |
| Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. | BΓ¦kvad-Hansen M et al. | β | 2012 | β |
| HmtDB, a genomic resource for mitochondrion-based human variability studies. | Rubino F et al. | β | 2012 | β |
| HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations. | Nardi B et al. | β | 2012 | β |
| Human genomic disease variants: a neutral evolutionary explanation. | Dudley JT et al. | β | 2012 | β |
| Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. | ValentΓnovΓ‘ L et al. | β | 2012 | β |
| Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database. | Alshatwi AA et al. | β | 2012 | β |
| Identification of hypertension susceptibility loci on rat chromosome 12. | Flister MJ et al. | β | 2012 | β |
| Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity. | Zegers D et al. | β | 2012 | β |
| Identification of novel genes involved in migraine. | LafreniΓ¨re RG et al. | β | 2012 | β |
| Identification of polymorphisms in genes of the immune system in cynomolgus macaques. | Wu H et al. | β | 2012 | β |
| Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype. | Pan Z et al. | β | 2012 | β |
| Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. | Saisawat P et al. | β | 2012 | β |
| Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency. | AlmejΓΊn MB et al. | β | 2012 | β |
| Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. | Rodrigues C et al. | β | 2012 | β |
| Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. | Gonzalez-Perez A et al. | β | 2012 | β |
| Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancer. | Peterson TA et al. | β | 2012 | β |
| Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. | Tietjen I et al. | β | 2012 | β |
| Inner ear morphology is perturbed in two novel mouse models of recessive deafness. | Miller KA et al. | β | 2012 | β |
| In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene. | Hussain MR et al. | β | 2012 | β |
| In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B. | Doss C GP | β | 2012 | β |
| Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. | Casola C et al. | β | 2012 | β |
| Interpretation of the consequences of mutations in protein kinases: combined use of bioinformatics and text mining. | Izarzugaza JM et al. | β | 2012 | β |
| Interpreting noncoding genetic variation in complex traits and human disease. | Ward LD et al. | β | 2012 | β |
| Investigating protein variants using structural calculation techniques. | Carlsson J et al. | β | 2012 | β |
| Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach. | Doss CG et al. | β | 2012 | β |
| Isolation of metallothionein genes and in silico structural characterization of their proteins using molecular modeling from yak (Bos grunniens). | Zhang L et al. | β | 2012 | β |
| KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. | Brasil AS et al. | β | 2012 | β |
| Limitations of the human reference genome for personalized genomics. | Rosenfeld JA et al. | β | 2012 | β |
| Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. | Mao M et al. | β | 2012 | β |
| Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. | Kotlarz D et al. | β | 2012 | β |
| Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. | Liu W et al. | β | 2012 | β |
| Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. | Anderson S et al. | β | 2012 | β |
| Meta-analysis identifies common variants associated with body mass index in east Asians. | Wen W et al. | β | 2012 | β |
| Mitochondrial Cytochrome c Oxidase subunit 1 Sequence Variation in Prostate Cancer. | Scott TA et al. | β | 2012 | β |
| Molecular approach in the study of AlstrΓΆm syndrome: analysis of ten Spanish families. | PiΓ±eiro-Gallego T et al. | β | 2012 | β |
| Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants. | Volckmar AL et al. | β | 2012 | β |
| Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. | Su CC et al. | β | 2012 | β |
| Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. | Boyden SE et al. | β | 2012 | β |
| Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. | Kannabiran C et al. | β | 2012 | β |
| Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. | Ko JM et al. | β | 2012 | β |
| Next-generation sequencing approaches for genetic mapping of complex diseases. | Casals F et al. | β | 2012 | β |
| Next generation sequencing for molecular diagnosis of neuromuscular diseases. | Vasli N et al. | β | 2012 | β |
| NMNAT1 mutations cause Leber congenital amaurosis. | Falk MJ et al. | β | 2012 | β |
| No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas. | Vaidya S et al. | β | 2012 | β |
| Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients. | Ahmed W et al. | β | 2012 | β |
| Novel germline PALB2 truncating mutations in African American breast cancer patients. | Zheng Y et al. | β | 2012 | β |
| Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. | Conca P et al. | β | 2012 | β |
| Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. | Czugala M et al. | β | 2012 | β |
| Novel mutation of SRD5A2 gene in a patient with 5Ξ±-reductase 2 deficiency from India. | Shabir I et al. | β | 2012 | β |
| Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men. | Khattri A et al. | β | 2012 | β |
| Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia. | LaPage MJ et al. | β | 2012 | β |
| Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. | Kraja AT et al. | β | 2012 | β |
| Personalized medicine: hope or hype? | Salari K et al. | β | 2012 | β |
| Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. | Masica DL et al. | β | 2012 | β |
| Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. | Giudicessi JR et al. | β | 2012 | β |
| Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels. | Razzaghi H et al. | β | 2012 | β |
| Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. | Kim J et al. | β | 2012 | β |
| Positive selection on the gene RNASEL: correlation between patterns of evolution and function. | Jin W et al. | β | 2012 | β |
| Possible genetic association between vasopressin receptor 1B and child aggression. | Zai CC et al. | β | 2012 | β |
| Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. | Bali DS et al. | β | 2012 | β |
| Predicting folding free energy changes upon single point mutations. | Zhang Z et al. | β | 2012 | β |
| Predicting the impact of deleterious single point mutations in SMAD gene family using structural bioinformatics approach. | George Priya Doss C et al. | β | 2012 | β |
| Prediction of protein-destabilizing polymorphisms by manual curation with protein structure. | Gough CA et al. | β | 2012 | β |
| Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate. | AraΓΊjo TK et al. | β | 2012 | β |
| Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. | Kaski JP et al. | β | 2012 | β |
| Prioritization of pathogenic mutations in the protein kinase superfamily. | Izarzugaza JM et al. | β | 2012 | β |
| Rare genetic variants and treatment response: sample size and analysis issues. | Witte JS | β | 2012 | β |
| Recurrent R-spondin fusions in colon cancer. | Seshagiri S et al. | β | 2012 | β |
| regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. | Teng M et al. | β | 2012 | β |
| Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR). | Rishishwar L et al. | β | 2012 | β |
| Resolving candidate genes of mouse skeletal muscle QTL via RNA-Seq and expression network analyses. | Lionikas A et al. | β | 2012 | β |
| Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease. | Masoodi TA et al. | β | 2012 | β |
| Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation. | Masoodi TA et al. | β | 2012 | β |
| Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. | Synofzik M et al. | β | 2012 | β |
| Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. | Kalfa N et al. | β | 2012 | β |
| Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations. | Ngo DN et al. | β | 2012 | β |
| Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol. | Tietjen I et al. | β | 2012 | β |
| Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. | Song K et al. | β | 2012 | β |
| Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases. | Huhn S et al. | β | 2012 | β |
| SNP set association analysis for familial data. | Schifano ED et al. | β | 2012 | β |
| Strain-dependent airway hyperresponsiveness and a chromosome 7 locus of elevated lymphocyte numbers in cystic fibrosis transmembrane conductance regulator-deficient mice. | Bazett M et al. | β | 2012 | β |
| Structural diversity and African origin of the 17q21.31 inversion polymorphism. | Steinberg KM et al. | β | 2012 | β |
| Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. | Tucci A et al. | β | 2012 | β |
| SySAP: a system-level predictor of deleterious single amino acid polymorphisms. | Huang T et al. | β | 2012 | β |
| Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. | Gallienne AE et al. | β | 2012 | β |
| The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. | Fan J et al. | β | 2012 | β |
| The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk. | Vogelsang M et al. | β | 2012 | β |
| The Genetics of Keratoconus: A Review. | Wheeler J et al. | β | 2012 | β |
| Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia. | Levanat S et al. | β | 2012 | β |
| Transposable elements are a major cause of somatic polymorphism in Vitis vinifera L. | Carrier G et al. | β | 2012 | β |
| Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. | Ghani-Kakhki M et al. | β | 2012 | β |
| Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD). | Wang YP et al. | β | 2012 | β |
| Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency. | Vasovcak P et al. | β | 2012 | β |
| Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants. | Crockett DK et al. | β | 2012 | β |
| VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. | Bourassa CV et al. | β | 2012 | β |
| VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. | Medina I et al. | β | 2012 | β |
| VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment. | Habegger L et al. | β | 2012 | β |
| Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. | Zhi D et al. | β | 2012 | β |
| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. | Hartig MB et al. | β | 2011 | β |
| Activating mutation in MET oncogene in familial colorectal cancer. | Neklason DW et al. | β | 2011 | β |
| Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. | Bjursell MK et al. | β | 2011 | β |
| A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. | Bowne SJ et al. | β | 2011 | β |
| A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. | Villard E et al. | β | 2011 | β |
| A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. | Nicholson G et al. | β | 2011 | β |
| A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. | Zimprich A et al. | β | 2011 | β |
| A new disease-specific machine learning approach for the prediction of cancer-causing missense variants. | Capriotti E et al. | β | 2011 | β |
| A new methodology to associate SNPs with human diseases according to their pathway related context. | Bakir-Gungor B et al. | β | 2011 | β |
| A novel FAD2-1 A allele in a soybean plant introduction offers an alternate means to produce soybean seed oil with 85% oleic acid content. | Pham AT et al. | β | 2011 | β |
| A novel GEFS+ locus on 12p13.33 in a large Roma family. | Morar B et al. | β | 2011 | β |
| A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. | Lee JH et al. | β | 2011 | β |
| A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia. | Ajmal M et al. | β | 2011 | β |
| Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. | Cox MG et al. | β | 2011 | β |
| Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial. | Wade R et al. | β | 2011 | β |
| Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. | Duraturo F et al. | β | 2011 | β |
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. | Lefeber DJ et al. | β | 2011 | β |
| Bioinformatic analyses to select phenotype affecting polymorphisms in HTR2C gene. | Piva F et al. | β | 2011 | β |
| Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. | Scotti C et al. | β | 2011 | β |
| Bioinformatics challenges for personalized medicine. | Fernald GH et al. | β | 2011 | β |
| Bioinformatics for human genetics: promises and challenges. | Lindblom A et al. | β | 2011 | β |
| Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. | Leupin O et al. | β | 2011 | β |
| Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases. | Liu C | β | 2011 | β |
| Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. | Posch MG et al. | β | 2011 | β |
| Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. | Singh AA et al. | β | 2011 | β |
| Characterization of the genomic structure and function of regions influencing renin and angiogenesis in the SS rat. | Stodola TJ et al. | β | 2011 | β |
| Compensated pathogenic deviations. | BareΕ‘iΔ A et al. | β | 2011 | β |
| Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. | Ferreira Z et al. | β | 2011 | β |
| DNA repair gene polymorphisms and tobacco smoking in the risk for colorectal adenomas. | Gao Y et al. | β | 2011 | β |
| EDNRB gene variants and melanoma risk in two southern European populations. | Spica T et al. | β | 2011 | β |
| Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells. | Balia C et al. | β | 2011 | β |
| Evolution of the bovine TLR gene family and member associations with Mycobacterium avium subspecies paratuberculosis infection. | Fisher CA et al. | β | 2011 | β |
| EX-HOM (EXome HOMozygosity): a proof of principle. | Pippucci T et al. | β | 2011 | β |
| Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. | Meeths M et al. | β | 2011 | β |
| Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing. | Tan IB et al. | β | 2011 | β |
| Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. | Winge MC et al. | β | 2011 | β |
| First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs. | Levy R et al. | β | 2011 | β |
| Fixation of deleterious mutations at critical positions in human proteins. | Subramanian S | β | 2011 | β |
| Four out of eight genes in a mouse chromosome 7 congenic donor region are candidate obesity genes. | Sarahan KA et al. | β | 2011 | β |
| Functional analysis of expressed sequence tags from the liver and brain of Korean Jindo dogs. | Kim JY et al. | β | 2011 | β |
| Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypanosoma congolense infection. | Noyes H et al. | β | 2011 | β |
| Genetic variants in cytosolic 5'-nucleotidase II are associated with its expression and cytarabine sensitivity in HapMap cell lines and in patients with acute myeloid leukemia. | Mitra AK et al. | β | 2011 | β |
| Genetic variation in the dectin-1/CARD9 recognition pathway and susceptibility to candidemia. | Rosentul DC et al. | β | 2011 | β |
| Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. | Taylor M et al. | β | 2011 | β |
| Genomic profiling in Down syndrome acute lymphoblastic leukemia identifies histone gene deletions associated with altered methylation profiles. | Loudin MG et al. | β | 2011 | β |
| [Genotypic characterization of a Portuguese population of Marfan syndrome patients]. | Lebreiro A et al. | β | 2011 | β |
| Germline mutations in BAP1 predispose to melanocytic tumors. | Wiesner T et al. | β | 2011 | β |
| Germline mutations in RAD51D confer susceptibility to ovarian cancer. | Loveday C et al. | β | 2011 | β |
| Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. | Tatton-Brown K et al. | β | 2011 | β |
| Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. | Neumann HP et al. | β | 2011 | β |
| Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping. | Zhan B et al. | β | 2011 | β |
| GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. | Chan YM et al. | β | 2011 | β |
| High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. | Holleboom AG et al. | β | 2011 | β |
| High Resolution Melt analysis for mutation screening in PKD1 and PKD2. | Bataille S et al. | β | 2011 | β |
| Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. | Zhang K et al. | β | 2011 | β |
| Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population. | Leonardi E et al. | β | 2011 | β |
| Improving the prediction of disease-related variants using protein three-dimensional structure. | Capriotti E et al. | β | 2011 | β |
| Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. | Laitinen EM et al. | β | 2011 | β |
| In silico analysis of single nucleotide polymorphism (SNPs) in human Ξ²-globin gene. | Alanazi M et al. | β | 2011 | β |
| In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. | Zhang Z et al. | β | 2011 | β |
| In silico SNP analysis and bioinformatics tools: a review of the state of the art to aid drug discovery. | Mah JT et al. | β | 2011 | β |
| Integrating Rare-Variant Testing, Function Prediction, and Gene Network in Composite Resequencing-Based Genome-Wide Association Studies (CR-GWAS). | Zhu C et al. | β | 2011 | β |
| Isolated 'idiopathic' micropenis: hidden genetic defects? | Paris F et al. | β | 2011 | β |
| Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. | Bergendal B et al. | β | 2011 | β |
| KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels. | Stead LF et al. | β | 2011 | β |
| LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty. | Tommiska J et al. | β | 2011 | β |
| MASP2 gene polymorphism is associated with susceptibility to hepatitis C virus infection. | Tulio S et al. | β | 2011 | β |
| Missense mutation of the reticulon-4 receptor alters spatial memory and social interaction in mice. | Lazar NL et al. | β | 2011 | β |
| Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation. | Banerjee R et al. | β | 2011 | β |
| Mitochondrial complex 1 gene analysis in keratoconus. | Pathak D et al. | β | 2011 | β |
| Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. | Vilboux T et al. | β | 2011 | β |
| Molecular basis of Bernard-Soulier syndrome in 27 patients from India. | Sumitha E et al. | β | 2011 | β |
| Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients. | Vasovcak P et al. | β | 2011 | β |
| Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. | Harboe TL et al. | β | 2011 | β |
| Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis. | Farber CR et al. | β | 2011 | β |
| Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. | Sun W et al. | β | 2011 | β |
| Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. | Chen N et al. | β | 2011 | β |
| Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations. | Zou M et al. | β | 2011 | β |
| Mutation rate switch inside Eurasian mitochondrial haplogroups: impact of selection and consequences for dating settlement in Europe. | Pierron D et al. | β | 2011 | β |
| Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. | Carroll LS et al. | β | 2011 | β |
| Myocilin mutations in black South Africans with POAG. | Whigham BT et al. | β | 2011 | β |
| Neighborhood properties are important determinants of temperature sensitive mutations. | Lockwood S et al. | β | 2011 | β |
| Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report. | Vogelsang M et al. | β | 2011 | β |
| Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. | Winge MC et al. | β | 2011 | β |
| Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. | Pugliese-Pires PN et al. | β | 2011 | β |
| Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. | Nakanishi H et al. | β | 2011 | β |
| OnionTree XML: a format to exchange gene-related probabilities. | Favorov A et al. | β | 2011 | β |
| Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. | B R et al. | β | 2011 | β |
| Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. | Kumar S et al. | β | 2011 | β |
| Poly (A)+ transcriptome assessment of ERBB2-induced alterations in breast cell lines. | Carraro DM et al. | β | 2011 | β |
| Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. | Guey LT et al. | β | 2011 | β |
| Predicting the functional impact of protein mutations: application to cancer genomics. | Reva B et al. | β | 2011 | β |
| Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. | Hicks S et al. | β | 2011 | β |
| Prioritizing single-nucleotide variations that potentially regulate alternative splicing. | Teng M et al. | β | 2011 | β |
| Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians. | Mitra AK et al. | β | 2011 | β |
| Proteome-wide evidence for enhanced positive Darwinian selection within intrinsically disordered regions in proteins. | Nilsson J et al. | β | 2011 | β |
| Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence. | Xie P et al. | β | 2011 | β |
| Rare-variant association testing for sequencing data with the sequence kernel association test. | Wu MC et al. | β | 2011 | β |
| Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. | Kim OH et al. | β | 2011 | β |
| SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data. | Deng X | β | 2011 | β |
| Strategies for exome and genome sequence data analysis in disease-gene discovery projects. | Robinson PN et al. | β | 2011 | β |
| The functional spectrum of low-frequency coding variation. | Marth GT et al. | β | 2011 | β |
| The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. | Wahab F et al. | β | 2011 | β |
| The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. | Mezghani N et al. | β | 2011 | β |
| The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors. | Stehr H et al. | β | 2011 | β |
| Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction. | Zarrouk Mahjoub S et al. | β | 2011 | β |
| Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy. | Ma J et al. | β | 2011 | β |
| Two novel CHN1 mutations in 2 families with Duane retraction syndrome. | Chan WM et al. | β | 2011 | β |
| Unique phenotype in a patient with CHARGE syndrome. | Jain S et al. | β | 2011 | β |
| Variants and haplotypes in angiotensinogen gene are associated with plasmatic angiotensinogen level in Mexican population. | Balam-Ortiz E et al. | β | 2011 | β |
| VISTA Region Viewer (RViewer)--a computational system for prioritizing genomic intervals for biomedical studies. | Lukashin I et al. | β | 2011 | β |
| Zic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patients. | Hatayama M et al. | β | 2011 | β |