human | Q5 |
P2456 | DBLP author ID | 02/6640 |
P6178 | Dimensions author ID | 0604672750.65 |
P496 | ORCID iD | 0000-0003-3154-4011 |
P10861 | Springer Nature person ID | 0604672750.65 |
P108 | employer | Boehringer Ingelheim | Q699532 |
EspeRare Foundation | Q30287520 | ||
P734 | family name | Stupka | Q21511895 |
Stupka | Q21511895 | ||
Stupka | Q21511895 | ||
P735 | given name | Elia | Q16947019 |
Elia | Q16947019 | ||
P106 | occupation | researcher | Q1650915 |
P21 | sex or gender | male | Q6581097 |
Q34434721 | A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium |
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Q61798480 | A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling |
Q42738634 | A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells |
Q34903557 | A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice. |
Q24324164 | ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies |
Q46243031 | An RNA-Seq atlas of gene expression in mouse and rat normal tissues. |
Q41771642 | An autoinflammatory neurological disease due to interleukin 6 hypersecretion |
Q37359695 | Asthma in seniors: Part 1. Evidence for underdiagnosis, undertreatment, and increasing morbidity and mortality |
Q43035833 | BASC: an integrated bioinformatics system for Brassica research |
Q57456337 | BATLAS: Deconvoluting Brown Adipose Tissue |
Q33682890 | Biopipe: a flexible framework for protocol-based bioinformatics analysis |
Q34516375 | Characterisation and validation of insertions and deletions in 173 patient exomes |
Q42243001 | Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators |
Q34298428 | Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus |
Q36748742 | Comparative analysis of the testis and ovary transcriptomes in zebrafish by combining experimental and computational tools |
Q34729614 | Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors. |
Q35120706 | Dissecting the signaling pathways associated with the oncogenic activity of MLK3 P252H mutation |
Q37272473 | Dynamic regulation of the transcription initiation landscape at single nucleotide resolution during vertebrate embryogenesis |
Q39790520 | Ensembl 2002: accommodating comparative genomics |
Q48305228 | Epigenetic regulation of survivin by Bmi1 is cell type specific during corticogenesis and in gliomas |
Q39044087 | Epigenetics and Future Generations |
Q43169689 | Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model |
Q41595836 | Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study |
Q42857373 | Gene expression analysis of the emergence of epileptiform activity after focal injection of kainic acid into mouse hippocampus |
Q55014686 | Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis. |
Q35145526 | Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2. |
Q35882709 | Genome-wide mapping of Myc binding and gene regulation in serum-stimulated fibroblasts. |
Q35082376 | Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid |
Q22122135 | Genome-wide signatures of convergent evolution in echolocating mammals |
Q37154264 | Germline CDH1 deletions in hereditary diffuse gastric cancer families |
Q91933080 | HMGA1 promotes breast cancer angiogenesis supporting the stability, nuclear localization and transcriptional activity of FOXM1 |
Q39596997 | Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development |
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Q30482364 | Large-scale open bioinformatics data resources. |
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Q33594249 | Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours |
Q24319044 | Mutation of SALL2 causes recessive ocular coloboma in humans and mice |
Q39176438 | Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells |
Q33600737 | PRGdb: a bioinformatics platform for plant resistance gene analysis |
Q42183671 | ParkDB: a Parkinson's disease gene expression database |
Q28301245 | Phylogenomic analyses elucidate the evolutionary relationships of bats |
Q21267234 | Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements |
Q42778140 | REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation. |
Q36820042 | Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks |
Q57200215 | Sequence variation database project at the European Bioinformatics Institute |
Q41852340 | Shuffling of cis-regulatory elements is a pervasive feature of the vertebrate lineage |
Q37016097 | Social Epigenetics and Equality of Opportunity |
Q37507654 | Targeted transgene integration overcomes variability of position effects in zebrafish |
Q27949361 | The BioMart community portal: an innovative alternative to large, centralized data repositories |
Q24682183 | The Bioperl toolkit: Perl modules for the life sciences |
Q41335102 | The C. savignyi genetic map and its integration with the reference sequence facilitates insights into chordate genome evolution |
Q24548408 | The Ensembl genome database project |
Q24609225 | The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium |
Q34664011 | The TATA-binding protein regulates maternal mRNA degradation and differential zygotic transcription in zebrafish |
Q41782371 | The UniTrap resource: tools for the biologist enabling optimized use of gene trap clones. |
Q40143544 | The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment |
Q42719883 | The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance. |
Q24312749 | The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes |
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Q28510539 | Tprg, a gene predominantly expressed in skin, is a direct target of the transcription factor p63 |
Q39321532 | Transcription initiation arising from E-cadherin/CDH1 intron2: a novel protein isoform that increases gastric cancer cell invasion and angiogenesis |
Q41869702 | VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites |
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Q37534350 | miR-17∼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling |
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