Institution
Pierre-and-Marie-Curie University
Education•Paris, France•
About: Pierre-and-Marie-Curie University is a education organization based out in Paris, France. It is known for research contribution in the topics: Population & Raman spectroscopy. The organization has 34448 authors who have published 56139 publications receiving 2392398 citations.
Papers published on a yearly basis
Papers
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TL;DR: Three recent large-scale phylogenomics studies, which deal with the early diversification of animals, produced highly incongruent findings despite the use of considerable sequence data, suggesting that merely adding more sequences is not enough to resolve the inconsistencies.
Abstract: In the quest to reconstruct the Tree of Life, researchers have increasingly turned to phylogenomics, the inference of phylogenetic relationships using genome-scale data (Box 1). Mesmerized by the sustained increase in sequencing throughput, many phylogeneticists entertained the hope that the incongruence frequently observed in studies using single or a few genes [1] would come to an end with the generation of large multigene datasets. Yet, as so often happens, reality has turned out to be far more complex, as three recent large-scale analyses, one published in PLoS Biology [2]–[4], make clear. The studies, which deal with the early diversification of animals, produced highly incongruent (Box 2) findings despite the use of considerable sequence data (see Figure 1). Clearly, merely adding more sequences is not enough to resolve the inconsistencies.
955 citations
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TL;DR: This poster presents a meta-modelling procedure called “spot-spot analysis” that allows for the direct comparison of the response of the immune system to various types of carbohydrates and its role in disease.
955 citations
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TL;DR: Patients receiving thiopurines for inflammatory bowel disease have an increased risk of developing lymphoproliferative disorders, and most cases associated withThiopurine exposure matched the pathological range of post-transplant disease.
954 citations
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National Institutes of Health1, University College London2, Erasmus University Rotterdam3, VU University Amsterdam4, Cardiff University5, University of Manchester6, University of Turin7, University of Würzburg8, University of Sydney9, University of Birmingham10, University Hospitals Birmingham NHS Foundation Trust11, John Radcliffe Hospital12, The Catholic University of America13, University of Siena14, Lund University15, University of Cagliari16, Oulu University Hospital17, Helsinki University Central Hospital18, University of Pennsylvania19, Tel Aviv Sourasky Medical Center20, Memorial Hospital of South Bend21, Chang Gung University22, University of Tokyo23, French Institute of Health and Medical Research24, Centre national de la recherche scientifique25, Pierre-and-Marie-Curie University26, University of Sheffield27, Aneurin Bevan University Health Board28, University Hospital of Wales29, Johns Hopkins University30
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.
Abstract: Background
We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Methods
We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion.
Findings
In patients with sporadic ALS, we identified the repeat expansion in 236 (7·0%) of 3377 white individuals from the USA, Europe, and Australia, two (4·1%) of 49 black individuals from the USA, and six (8·3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39·3%) of 552 white individuals with familial ALS from Europe and the USA. 59 (6·0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24·8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic ALS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years.
Interpretation
A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.
Funding
Full funding sources listed at end of paper (see Acknowledgments).
951 citations
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TL;DR: An in-depth analysis of a random forests model suggested by Breiman (2004), which is very close to the original algorithm, and shows in particular that the procedure is consistent and adapts to sparsity, in the sense that its rate of convergence depends only on the number of strong features and not on how many noise variables are present.
Abstract: Random forests are a scheme proposed by Leo Breiman in the 2000's for building a predictor ensemble with a set of decision trees that grow in randomly selected subspaces of data. Despite growing interest and practical use, there has been little exploration of the statistical properties of random forests, and little is known about the mathematical forces driving the algorithm. In this paper, we offer an in-depth analysis of a random forests model suggested by Breiman (2004), which is very close to the original algorithm. We show in particular that the procedure is consistent and adapts to sparsity, in the sense that its rate of convergence depends only on the number of strong features and not on how many noise variables are present.
950 citations
Authors
Showing all 34671 results
Name | H-index | Papers | Citations |
---|---|---|---|
Zhong Lin Wang | 245 | 2529 | 259003 |
Guido Kroemer | 236 | 1404 | 246571 |
Krzysztof Matyjaszewski | 169 | 1431 | 128585 |
J. E. Brau | 162 | 1949 | 157675 |
E. Hivon | 147 | 403 | 118440 |
Kazuhiko Hara | 141 | 1956 | 107697 |
Simon Prunet | 141 | 434 | 96314 |
H. J. McCracken | 140 | 579 | 71091 |
G. Calderini | 139 | 1734 | 102408 |
Stefano Giagu | 139 | 1651 | 101569 |
Jean-Paul Kneib | 138 | 805 | 89287 |
G. Marchiori | 137 | 1590 | 94277 |
J. Ocariz | 136 | 1562 | 95905 |
Jean-Marie Tarascon | 136 | 853 | 137673 |
Alexis Brice | 135 | 870 | 83466 |