@article{SommerfeldSenfBumaetal.2018,
  author    = {Sommerfeld, Andreas and Senf, Cornelius and Buma, Brian and D'Amato, Anthony W. and Despr{\´e}s, Tiphaine and D{\´i}az-Hormaz{\´a}bal, Ignacio and Fraver, Shawn and Frelich, Lee E. and Guti{\´e}rrez, {\´A}lvaro G. and Hart, Sarah J. and Harvey, Brian J. and He, Hong S. and Hl{\´a}sny, Tom{\´a}š and Holz, Andr{\´e}s and Kitzberger, Thomas and Kulakowski, Dominik and Lindenmayer, David and Mori, Akira S. and M{\"u}ller, J{\"o}rg and Paritsis, Juan and Perry, George L. W. and Stephens, Scott L. and Svoboda, Miroslav and Turner, Monica G. and Veblen, Thomas T. and Seidl, Rupert},
  title     = {Patterns and drivers of recent disturbances across the temperate forest biome},
  series = {Nature Communications},
  volume    = {9},
  journal   = {Nature Communications},
  doi       = {10.1038/s41467-018-06788-9},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-239157},
  year      = {2018},
  abstract  = {Increasing evidence indicates that forest disturbances are changing in response to global change, yet local variability in disturbance remains high. We quantified this considerable variability and analyzed whether recent disturbance episodes around the globe were consistently driven by climate, and if human influence modulates patterns of forest disturbance. We combined remote sensing data on recent (2001-2014) disturbances with in-depth local information for 50 protected landscapes and their surroundings across the temperate biome. Disturbance patterns are highly variable, and shaped by variation in disturbance agents and traits of prevailing tree species. However, high disturbance activity is consistently linked to warmer and drier than average conditions across the globe. Disturbances in protected areas are smaller and more complex in shape compared to their surroundings affected by human land use. This signal disappears in areas with high recent natural disturbance activity, underlining the potential of climate-mediated disturbance to transform forest landscapes.},
  language  = {en}
}
@article{WestburyTurroGreeneetal.2015,
  author    = {Westbury, Sarah K and Turro, Ernest and Greene, Daniel and Lentaigne, Claire and Kelly, Anne M and Bariana, Tadbir K and Simeoni, Ilenia and Pillois, Xavier and Attwood, Antony and Austin, Steve and Jansen, Sjoert BG and Bakchoul, Tamam and Crisp-Hihn, Abi and Erber, Wendy N and Favier, R{\´e}mi and Foad, Nicola and Gattens, Michael and Jolley, Jennifer D and Liesner, Ri and Meacham, Stuart and Millar, Carolyn M and Nurden, Alan T and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Schulman, Sol and Schulze, Harald and Stephens, Jonathan C and Furie, Bruce and Robinson, Peter N and van Geet, Chris and Rendon, Augusto and Gomez, Keith and Laffan, Michael A and Lambert, Michele P and Nurden, Paquita and Ouwehand, Willem H and Richardson, Sylvia and Mumford, Andrew D and Freson, Kathleen},
  title     = {Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders},
  series = {Genome Medicine},
  volume    = {7},
  journal   = {Genome Medicine},
  number    = {36},
  doi       = {10.1186/s13073-015-0151-5},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-143329},
  year      = {2015},
  abstract  = {Background: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases. Methods: We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluster analyses are then used to characterise groups of cases with similar HPO terms and variants in the same genes. Results: We show that 60\% of index cases with heritable BPD enrolled at 10 European or US centres were annotated with HPO terms indicating abnormalities in organ systems other than blood or blood-forming tissues, particularly the nervous system. Cases within pedigrees clustered closely together on the bases of their HPO-coded phenotypes, as did cases sharing several clinically suspected syndromic disorders. Cases subsequently found to harbour variants in ACTN1 also clustered closely, even though diagnosis of this recently described disorder was not possible using only the clinical and laboratory data available to the enrolling clinician. Conclusions: These findings validate our novel HPO-based phenotype clustering methodology for known BPD, thus providing a new discovery tool for BPD of unknown genetic basis. This approach will also be relevant for other rare diseases with significant genetic heterogeneity.},
  language  = {en}
}