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Hudson, Lawrence N. ; Newbold, Tim ; Contu, Sara ; Hill, Samantha L. L. ; Lysenko, Igor ; Palma, Adriana de ; Phillips, Helen R. P. ; Senior, Rebecca A. ; Bennett, Dominic J. ; Booth, Hollie ; Choimes, Argyrios ; Correia, David L. P. ; Day, Julie ; Echeverria-Londono, Susy ; Garon, Morgan ; Harrison, Michelle L. K. ; Ingram, Daniel J. ; Jung, Martin ; Kemp, Victoria ; Kirkpatrick, Lucinda ; Martin, Callum D. ; Pan, Yuan ; White, Hannah J. ; Aben, Job ; Abrahamczyk, Stefan ; Adum, Gilbert B. ; Aguilar-Barquero, Virginia ; Aizen, Marcelo ; Ancrenaz, Marc ; Arbelaez-Cortes, Enrique ; Armbrecht, Inge ; Azhar, Badrul ; Azpiroz, Adrián B. ; Baeten, Lander ; Báldi, András ; Banks, John E. ; Barlow, Jos ; Batáry, Péter ; Bates, Adam J. ; Bayne, Erin M. ; Beja, Pedro ; Berg, Åke ; Berry, Nicholas J. ; Bicknell, Jake E. ; Bihn, Jochen H. ; Böhning-Gaese, Katrin ; Boekhout, Teun ; Boutin, Celine ; Bouyer, Jeremy ; Brearley, Francis Q. ; Brito, Isabel ; Brunet, Jörg ; Buczkowski, Grzegorz ; Buscardo, Erika ; Cabra-Garcia, Jimmy ; Calvino-Cancela, Maria ; Cameron, Sydney A. ; Cancello, Eliana M. ; Carrijo, Tiago F. ; Carvalho, Anelena L. ; Castro, Helena ; Castro-Luna, Alejandro Antonio ; Cerda, Rolando ; Cerezo, Alexis ; Chauvat, Matthieu ; Clarke, Frank M. ; Cleary, Daniel F. R. ; Connop, Stuart P. ; D'Aniello, Biagio ; Silva, Pedro Giovani da ; Darvill, Ben ; Dauber, Jens ; Dejean, Alain ; Diekötter, Tim ; Dominguez-Haydar, Yamileth ; Dormann, Carsten F. ; Dumont, Bertrand ; Dures, Simon G. ; Dynesius, Mats ; Edenius, Lars ; Elek, Zoltan ; Entling, Martin H. ; Farwig, Nina ; Fayle, Tom M. ; Felicioli, Antonio ; Felton, Annika M. ; Ficetola, Gentile Francesco ; Filgueiras, Bruno K. C. ; Fonte, Steve J. ; Fraser, Lauchlan H. ; Fukuda, Daisuke ; Furlani, Dario ; Ganzhorn, Jörg U. ; Garden, Jenni G. ; Gheler-Costa, Carla ; Giordani, Paolo ; Giordano, Simonetta ; Gottschalk, Marco S. ; Goulson, Dave ; Gove, Aaron D. ; Grogan, James ; Hanley, Mick E. ; Hanson, Thor ; Hashim, Nor R. ; Hawes, Joseph E. ; Hébert, Christian ; Helden, Alvin J. ; Henden, John-André ; Hernández, Lionel ; Herzog, Felix ; Higuera-Diaz, Diego ; Hilje, Branko ; Horgan, Finbarr G. ; Horvath, Roland ; Hylander, Kristoffer ; Horvath, Roland ; Isaacs-Cubides, Paola ; Ishitani, Mashiro ; Jacobs, Carmen T. ; Jaramillo, Victor J. ; Jauker, Birgit ; Jonsell, Matts ; Jung, Thomas S. ; Kapoor, Vena ; Kati, Vassiliki ; Katovai, Eric ; Kessler, Michael ; Knop, Eva ; Kolb, Annette ; Körösi, Àdám ; Lachat, Thibault ; Lantschner, Victoria ; Le Féon, Violette ; LeBuhn, Gretchen ; Légaré, Jean-Philippe ; Letcher, Susan G. ; Littlewood, Nick A. ; López-Quintero, Carlos A. ; Louhaichi, Mounir ; Lövei, Gabor L. ; Lucas-Borja, Manuel Esteban ; Luja, Victor H. ; Maeto, Kaoru ; Magura, Tibor ; Mallari, Neil Aldrin D. ; Marin-Spiotta, Erika ; Marshall, Edward Jon P. ; Martínez, Eliana ; Mayfield, Margaret M. ; Mikusinski, Gregorz ; Milder, Jeffery C. ; Miller, James R. ; Morales, Carolina L. ; Muriithi-Muchane, Mary Nyawira ; Muchane, Muchai ; Naidoo, Robin ; Nakamura, Akihiro ; Naoe, Shoji ; Nates-Parra, Guiomar ; Navarerete Gutierrez, Dario A. ; Neuschulz, Eike Lena ; Noreika, Norbertas ; Norfolk, Olivia ; Noriega, Jorge Ari ; Nöske, Nicole M. ; O'Dea, Niall ; Oduro, William ; Ofori-Boateng, Caleb ; Oke, Chris O. ; Osgathorpe, Lynne M. ; Paritsis, Juan ; Parrah, Alejandro ; Pelegrin, Nicolás ; Peres, Carlos A. ; Persson, Anna S. ; Petanidou, Theodora ; Phalan, Ben ; Philips, T. Keith ; Poveda, Katja ; Power, Eileen F. ; Presley, Steven J. ; Proença, Vânia ; Quaranta, Marino ; Quintero, Carolina ; Redpath-Downing, Nicola A. ; Reid, J. Leighton ; Reis, Yana T. ; Ribeiro, Danilo B. ; Richardson, Barbara A. ; Richardson, Michael J. ; Robles, Carolina A. ; Römbke, Jörg ; Romero-Duque, Luz Piedad ; Rosselli, Loreta ; Rossiter, Stephen J. ; Roulston, T'ai H. ; Rousseau, Laurent ; Sadler, Jonathan P. ; Sáfián, Szbolcs ; Saldaña-Vásquez, Romeo A. ; Samnegård, Ulrika ; Schüepp, Christof ; Schweiger, Oliver ; Sedlock, Jodi L. ; Shahabuddin, Ghazala ; Sheil, Douglas ; Silva, Fernando A. B. ; Slade, Eleanor ; Smith-Pardo, Allan H. ; Sodhi, Navjot S. ; Somarriba, Eduardo J. ; Sosa, Ramón A. ; Stout, Jane C. ; Struebig, Matthew J. ; Sung, Yik-Hei ; Threlfall, Caragh G. ; Tonietto, Rebecca ; Tóthmérész, Béla ; Tscharntke, Teja ; Turner, Edgar C. ; Tylianakis, Jason M. ; Vanbergen, Adam J. ; Vassilev, Kiril ; Verboven, Hans A. F. ; Vergara, Carlos H. ; Vergara, Pablo M. ; Verhulst, Jort ; Walker, Tony R. ; Wang, Yanping ; Watling, James I. ; Wells, Konstans ; Williams, Christopher D. ; Willig, Michael R. ; Woinarski, John Casimir Zichy ; Wolf, Jan H. D. ; Woodcock, Ben A. ; Yu, Douglas W. ; Zailsev, Andreys ; Collen, Ben ; Ewers, Rob M. ; Mace, Georgina M. ; Purves, Drew W. ; Scharlemann, Jörn P. W. ; Pervis, Andy
Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species’ threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project – and avert – future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups – including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems – www.predicts.org.uk). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Wang, Zhuozhi ; Vorstman, Jacob A. S. ; Thompson, Ann P. ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T. ; Oliveira, Bárbara ; Marshall, Christian R. ; Magalhães, Tiago R. ; Lowe, Jennifer K. ; Howe, Jennifer L. ; Griswold, Anthony J. ; Gilbert, John ; Duketis, Eftichia ; Dombroski, Beth A. ; Jonge, Maretha de ; Cuccaro, Michael L. ; Crawford, Emily L. ; Correia, Catarina T. ; Conroy, Judith ; Conceição, Inȇs C. ; Geburtig-Chiocchetti, Andreas ; Casey, Jillian P. ; Cai, Guiqing ; Cabrol, Christelle ; Bolshakova, Nadia ; Bacchelli, Elena ; Anney, Richard ; Gallinger, Steven ; Cotterchio, Michelle ; Casey, Graham ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; Wallace, Simon ; Engeland, Herman van ; Tryfon, Ana ; Thomson, Susanne ; Soorya, Latha ; Roge, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy J. ; McInnes, L. Alison ; McGrew, Susan G. ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann ; Kolevzon, Alexander ; González, Patricia Jiménez ; Jacob, Suma ; Holt, Richard ; Guter, Stephen J. ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A. ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F. ; Bölte, Sven ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J. ; Anagnostou, Evdokia ; Almeida, Joana ; Wijsman, Ellen M. ; Vieland, Veronica J. ; Vicente, Astrid M. ; Schellenberg, Gerard D. ; Pericak-Vance, Margaret Ann ; Paterson, Andrew D. ; Parr, Jeremy R. ; Oliveira, Guiomar ; Nurnberger, John I. ; Monaco, Anthony P. ; Maestrini, Elena ; Klauck, Sabine M. ; Hakonarson, Hakon ; Haines, Jonathan L. ; Geschwind, Daniel H. ; Freitag, Christine M. ; Folstein, Susan E. ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S. ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
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