Institution
University of Geneva
Education•Geneva, Switzerland•
About: University of Geneva is a education organization based out in Geneva, Switzerland. It is known for research contribution in the topics: Population & Galaxy. The organization has 26887 authors who have published 65265 publications receiving 2931373 citations. The organization is also known as: Geneva University & Universite de Geneve.
Topics: Population, Galaxy, Planet, Stars, Context (language use)
Papers published on a yearly basis
Papers
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University of Rome Tor Vergata1, Memorial Sloan Kettering Cancer Center2, University of California, Los Angeles3, University of Toronto4, Max Delbrück Center for Molecular Medicine5, University of Geneva6, Bielefeld University7, University of Cambridge8, Centre national de la recherche scientifique9, University of Edinburgh10, Johns Hopkins University11, Aix-Marseille University12, Harvard University13, Merck KGaA14
TL;DR: This work proposes a community standard data model for the representation and exchange of protein interaction data, jointly developed by members of the Proteomics Standards Initiative (PSI) and the Human Proteome Organization (HUPO).
Abstract: A major goal of proteomics is the complete description of the protein interaction network underlying cell physiology. A large number of small scale and, more recently, large-scale experiments have contributed to expanding our understanding of the nature of the interaction network. However, the necessary data integration across experiments is currently hampered by the fragmentation of publicly available protein interaction data, which exists in different formats in databases, on authors' websites or sometimes only in print publications. Here, we propose a community standard data model for the representation and exchange of protein interaction data. This data model has been jointly developed by members of the Proteomics Standards Initiative (PSI), a work group of the Human Proteome Organization (HUPO), and is supported by major protein interaction data providers, in particular the Biomolecular Interaction Network Database (BIND), Cellzome (Heidelberg, Germany), the Database of Interacting Proteins (DIP), Dana Farber Cancer Institute (Boston, MA, USA), the Human Protein Reference Database (HPRD), Hybrigenics (Paris, France), the European Bioinformatics Institute's (EMBL-EBI, Hinxton, UK) IntAct, the Molecular Interactions (MINT, Rome, Italy) database, the Protein-Protein Interaction Database (PPID, Edinburgh, UK) and the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING, EMBL, Heidelberg, Germany).
658 citations
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TL;DR: The genomic structure of NIPBL is characterized and it is found that it is widely expressed in fetal and adult tissues and facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
Abstract: Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
658 citations
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TL;DR: A role for MyD88 as an adapter in IL-1 signal transduction is supported; MyD 88 forms homodimers in vivo through DD-DD and Toll-Toll interactions.
657 citations
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Alvaro N. Barbeira1, Scott P. Dickinson1, Rodrigo Bonazzola1, Jiamao Zheng1 +260 more•Institutions (43)
TL;DR: A mathematical expression is derived to compute PrediXcan results using summary data, and the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes are investigated.
Abstract: Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy and general robustness to misspecified reference sets. We apply this framework to 44 GTEx tissues and 100+ phenotypes from GWAS and meta-analysis studies, creating a growing public catalog of associations that seeks to capture the effects of gene expression variation on human phenotypes. Replication in an independent cohort is shown. Most of the associations are tissue specific, suggesting context specificity of the trait etiology. Colocalized significant associations in unexpected tissues underscore the need for an agnostic scanning of multiple contexts to improve our ability to detect causal regulatory mechanisms. Monogenic disease genes are enriched among significant associations for related traits, suggesting that smaller alterations of these genes may cause a spectrum of milder phenotypes.
657 citations
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Institute of Cancer Research1, Stanford University2, University Hospital of Wales3, Children's Hospital of Philadelphia4, Swiss Institute of Bioinformatics5, The Royal Marsden NHS Foundation Trust6, St George's Hospital7, King's College8, The Chinese University of Hong Kong9, Shandong University10, Boston Children's Hospital11, University of Queensland12, Federal University of São Paulo13, University of Minho14, Beaumont Hospital15, Temple University16, Institut Gustave Roussy17, McGill University18, St. Jude Children's Research Hospital19, German Cancer Research Center20, University Hospital Heidelberg21, Cincinnati Children's Hospital Medical Center22, University of Göttingen23, University of Geneva24
TL;DR: Genomic aberrations increase with age, highlighting the infant population as biologically and clinically distinct, and co-segregating mutations in histone-mutant subgroups including loss of FBXW7 in H 3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H2.1K 27M are identified.
655 citations
Authors
Showing all 27203 results
Name | H-index | Papers | Citations |
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JoAnn E. Manson | 270 | 1819 | 258509 |
Joseph L. Goldstein | 207 | 556 | 149527 |
Kari Stefansson | 206 | 794 | 174819 |
David Baltimore | 203 | 876 | 162955 |
Mark I. McCarthy | 200 | 1028 | 187898 |
Michael S. Brown | 185 | 422 | 123723 |
Yang Gao | 168 | 2047 | 146301 |
Napoleone Ferrara | 167 | 494 | 140647 |
Marc Weber | 167 | 2716 | 153502 |
Alessandro Melchiorri | 151 | 674 | 116384 |
Andrew D. Hamilton | 151 | 1334 | 105439 |
David P. Strachan | 143 | 472 | 105256 |
Andrew Beretvas | 141 | 1985 | 110059 |
Rainer Wallny | 141 | 1661 | 105387 |
Josh Moss | 139 | 1019 | 89255 |