@article{TaalStPourcainThieringetal.2012, author = {Taal, H. Rob and St Pourcain, Beate and Thiering, Elisabeth and Das, Shikta and Mook-Kanamori, Dennis O. and Warrington, Nicole M. and Kaakinen, Marika and Kreiner-Moller, Eskil and Bradfield, Jonathan P. and Freathy, Rachel M. and Geller, Frank and Guxens, Monica and Cousminer, Diana L. and Kerkhof, Marjan and Timpson, Nicholas J. and Ikram, M. Arfan and Beilin, Lawrence J. and Bonnelykke, Klaus and Buxton, Jessica L. and Charoen, Pimphen and Chawes, Bo Lund Krogsgaard and Eriksson, Johan and Evans, David M. and Hofman, Albert and Kemp, John P. and Kim, Cecilia E. and Klopp, Norman and Lahti, Jari and Lye, Stephen J. and McMahon, George and Mentch, Frank D. and Mueller-Nurasyid, Martina and O'Reilly, Paul F. and Prokopenko, Inga and Rivadeneira, Fernando and Steegers, Eric A. P. and Sunyer, Jordi and Tiesler, Carla and Yaghootkar, Hanieh and Breteler, Monique M. B. and Debette, Stephanie and Fornage, Myriam and Gudnason, Vilmundur and Launer, Lenore J. and van der Lugt, Aad and Mosley, Thomas H. and Seshadri, Sudha and Smith, Albert V. and Vernooij, Meike W. and Blakemore, Alexandra I. F. and Chiavacci, Rosetta M. and Feenstra, Bjarke and Fernandez-Banet, Julio and Grant, Struan F. A. and Hartikainen, Anna-Liisa and van der Heijden, Albert J. and Iniguez, Carmen and Lathrop, Mark and McArdle, Wendy L. and Molgaard, Anne and Newnham, John P. and Palmer, Lyle J. and Palotie, Aarno and Pouta, Annneli and Ring, Susan M. and Sovio, Ulla and Standl, Marie and Uitterlinden, Andre G. and Wichmann, H-Erich and Vissing, Nadja Hawwa and DeCarli, Charles and van Duijn, Cornelia M. and McCarthy, Mark I. and Koppelman, Gerard H. and Estivill, Xavier and Hattersley, Andrew T. and Melbye, Mads and Bisgaard, Hans and Pennell, Craig E. and Widen, Elisabeth and Hakonarson, Hakon and Smith, George Davey and Heinrich, Joachim and Jarvelin, Marjo-Riitta and Jaddoe, Vincent W. V. and Adair, Linda S. and Ang, Wei and Atalay, Mustafa and van Beijsterveldt, Toos and Bergen, Nienke and Benke, Kelly and Berry, Diane J. and Bradfield, Jonathan P. and Charoen, Pimphen and Coin, Lachlan and Cousminer, Diana L. and Das, Shikta and Davis, Oliver S. P. and Elliott, Paul and Evans, David M. and Feenstra, Bjarke and Flexeder, Claudia and Frayling, Tim and Freathy, Rachel M. and Gaillard, Romy and Geller, Frank and Groen-Blokhuis, Maria and Goh, Liang-Kee and Guxens, Monica and Haworth, Claire M. A. and Hadley, Dexter and Hebebrand, Johannes and Hinney, Anke and Hirschhorn, Joel N. and Holloway, John W. and Holst, Claus and Hottenga, Jouke Jan and Horikoshi, Momoko and Huikari, Ville and Hypponen, Elina and Iniguez, Carmen and Kaakinen, Marika and Kilpelainen, Tuomas O. and Kirin, Mirna and Kowgier, Matthew and Lakka, Hanna-Maaria and Lange, Leslie A. and Lawlor, Debbie A. and Lehtimaki, Terho and Lewin, Alex and Lindgren, Cecilia and Lindi, Virpi and Maggi, Reedik and Marsh, Julie and Middeldorp, Christel and Millwood, Iona and Mook-Kanamori, Dennis O. and Murray, Jeffrey C. and Nivard, Michel and Nohr, Ellen Aagaard and Ntalla, Ioanna and Oken, Emily and O'Reilly, Paul F. and Palmer, Lyle J. and Panoutsopoulou, Kalliope and Pararajasingham, Jennifer and Prokopenko, Inga and Rodriguez, Alina and Salem, Rany M. and Sebert, Sylvain and Siitonen, Niina and Sovio, Ulla and St Pourcain, Beate and Strachan, David P. and Sunyer, Jordi and Taal, H. Rob and Teo, Yik-Ying and Thiering, Elisabeth and Tiesler, Carla and Uitterlinden, Andre G. and Valcarcel, Beatriz and Warrington, Nicole M. and White, Scott and Willemsen, Gonneke and Yaghootkar, Hanieh and Zeggini, Eleftheria and Boomsma, Dorret I. and Cooper, Cyrus and Estivill, Xavier and Gillman, Matthew and Grant, Struan F. A. and Hakonarson, Hakon and Hattersley, Andrew T. and Heinrich, Joachim and Hocher, Berthold and Jaddoe, Vincent W. V. and Jarvelin, Marjo-Riitta and Lakka, Timo A. and McCarthy, Mark I. and Melbye, Mads and Mohlke, Karen L. and Dedoussis, George V. and Ong, Ken K. and Pearson, Ewan R. and Pennell, Craig E. and Price, Thomas S. and Power, Chris and Raitakari, Olli T. and Saw, Seang-Mei and Scherag, Andre and Simell, Olli and Sorensen, Thorkild I. A. and Timpson, Nicholas J. and Widen, Elisabeth and Wilson, James F. and Ang, Wei and van Beijsterveldt, Toos and Bergen, Nienke and Benke, Kelly and Berry, Diane J. and Bradfield, Jonathan P. and Charoen, Pimphen and Coin, Lachlan and Cousminer, Diana L. and Das, Shikta and Elliott, Paul and Evans, David M. and Frayling, Tim and Freathy, Rachel M. and Gaillard, Romy and Groen-Blokhuis, Maria and Guxens, Monica and Hadley, Dexter and Hottenga, Jouke Jan and Huikari, Ville and Hypponen, Elina and Kaakinen, Marika and Kowgier, Matthew and Lawlor, Debbie A. and Lewin, Alex and Lindgren, Cecilia and Marsh, Julie and Middeldorp, Christel and Millwood, Iona and Mook-Kanamori, Dennis O. and Nivard, Michel and O'Reilly, Paul F. and Palmer, Lyle J. and Prokopenko, Inga and Rodriguez, Alina and Sebert, Sylvain and Sovio, Ulla and St Pourcain, Beate and Standl, Marie and Strachan, David P. and Sunyer, Jordi and Taal, H. Rob and Thiering, Elisabeth and Tiesler, Carla and Uitterlinden, Andre G. and Valcarcel, Beatriz and Warrington, Nicole M. and White, Scott and Willemsen, Gonneke and Yaghootkar, Hanieh and Boomsma, Dorret I. and Estivill, Xavier and Grant, Struan F. A. and Hakonarson, Hakon and Hattersley, Andrew T. and Heinrich, Joachim and Jaddoe, Vincent W. V. and Jarvelin, Marjo-Riitta and McCarthy, Mark I. and Pennell, Craig E. and Power, Chris and Timpson, Nicholas J. and Widen, Elisabeth and Ikram, M. Arfan and Fornage, Myriam and Smith, Albert V. and Seshadri, Sudha and Schmidt, Reinhold and Debette, Stephanie and Vrooman, Henri A. and Sigurdsson, Sigurdur and Ropele, Stefan and Coker, Laura H. and Longstreth, W. T. and Niessen, Wiro J. and DeStefano, Anita L. and Beiser, Alexa and Zijdenbos, Alex P. and Struchalin, Maksim and Jack, Clifford R. and Nalls, Mike A. and Au, Rhoda and Hofman, Albert and Gudnason, Haukur and van der Lugt, Aad and Harris, Tamara B. and Meeks, William M. and Vernooij, Meike W. and van Buchem, Mark A. and Catellier, Diane and Gudnason, Vilmundur and Windham, B. Gwen and Wolf, Philip A. and van Duijn, Cornelia M. and Mosley, Thomas H. and Schmidt, Helena and Launer, Lenore J. and Breteler, Monique M. B. and DeCarli, Charles}, title = {Common variants at 12q15 and 12q24 are associated with infant head circumference}, series = {Nature genetics}, volume = {44}, journal = {Nature genetics}, number = {5}, publisher = {Nature Publ. Group}, address = {New York}, organization = {Cohorts Heart Aging Res Genetic Ep, Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti}, issn = {1061-4036}, doi = {10.1038/ng.2238}, pages = {532 -- +}, year = {2012}, abstract = {To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.}, language = {en} } @article{AbdoAckermannAjelloetal.2011, author = {Abdo, A. A. and Ackermann, Margit and Ajello, M. and Allafort, A. J. and Baldini, L. and Ballet, J. and Barbiellini, G. and Baring, M. G. and Bastieri, D. and Bechtol, K. C. and Bellazzini, R. and Berenji, B. and Blandford, R. D. and Bloom, E. D. and Bonamente, E. and Borgland, A. W. and Bouvier, A. and Brandt, T. J. and Bregeon, Johan and Brez, A. and Brigida, M. and Bruel, P. and Buehler, R. and Buson, S. and Caliandro, G. A. and Cameron, R. A. and Cannon, A. and Caraveo, P. A. and Carrigan, Svenja and Casandjian, J. M. and Cavazzuti, E. and Cecchi, C. and Celik, O. and Charles, E. and Chekhtman, A. and Cheung, C. C. and Chiang, J. and Ciprini, S. and Claus, R. and Cohen-Tanugi, J. and Conrad, Jan and Cutini, S. and Dermer, C. D. and de Palma, F. and do Couto e Silva, E. and Drell, P. S. and Dubois, R. and Dumora, D. and Favuzzi, C. and Fegan, S. J. and Ferrara, E. C. and Focke, W. B. and Fortin, P. and Frailis, M. and Fuhrmann, L. and Fukazawa, Y. and Funk, S. and Fusco, P. and Gargano, F. and Gasparrini, D. and Gehrels, N. and Germani, S. and Giglietto, N. and Giordano, F. and Giroletti, M. and Glanzman, T. and Godfrey, G. and Grenier, I. A. and Guillemot, L. and Guiriec, S. and Hayashida, M. and Hays, E. and Horan, D. and Hughes, R. E. and Johannesson, G. and Johnson, A. S. and Johnson, W. N. and Kadler, M. and Kamae, T. and Katagiri, H. and Kataoka, J. and Knoedlseder, J. and Kuss, M. and Lande, J. and Latronico, L. and Lee, S. -H. and Lemoine-Goumard, M. and Longo, F. and Loparco, F. and Lott, B. and Lovellette, M. N. and Lubrano, P. and Madejski, G. M. and Makeev, A. and Max-Moerbeck, W. and Mazziotta, Mario Nicola and McEnery, J. E. and Mehault, J. and Michelson, P. F. and Mitthumsiri, W. and Mizuno, T. and Moiseev, A. A. and Monte, C. and Monzani, M. E. and Morselli, A. and Moskalenko, I. V. and Murgia, S. and Naumann-Godo, M. and Nishino, S. and Nolan, P. L. and Norris, J. P. and Nuss, E. and Ohsugi, T. and Okumura, A. and Omodei, N. and Orlando, E. and Ormes, J. F. and Paneque, D. and Panetta, J. H. and Parent, D. and Pavlidou, V. and Pearson, T. J. and Pelassa, V. and Pepe, M. and Pesce-Rollins, M. and Piron, F. and Porter, T. A. and Raino, S. and Rando, R. and Razzano, M. and Readhead, A. and Reimer, A. and Reimer, O. and Richards, J. L. and Ripken, J. and Ritz, S. and Roth, M. and Sadrozinski, H. F. -W. and Sanchez, D. and Sander, A. and Scargle, J. D. and Sgro, C. and Siskind, E. J. and Smith, P. D. and Spandre, G. and Spinelli, P. and Stawarz, L. and Stevenson, M. and Strickman, M. S. and Sokolovsky, K. V. and Suson, D. J. and Takahashi, H. and Takahashi, T. and Tanaka, T. and Thayer, J. B. and Thayer, J. G. and Thompson, D. J. and Tibaldo, L. and Torres, F. and Tosti, G. and Tramacere, A. and Uchiyama, Y. and Usher, T. L. and Vandenbroucke, J. and Vasileiou, V. and Vilchez, N. and Vitale, V. and Waite, A. P. and Wang, P. and Wehrle, A. E. and Winer, B. L. and Wood, K. S. and Yang, Z. and Ylinen, T. and Zensus, J. A. and Ziegler, M. and Aleksic, J. and Antonelli, L. A. and Antoranz, P. and Backes, Michael and Barrio, J. A. and Gonzalez, J. Becerra and Bednarek, W. and Berdyugin, A. and Berger, K. and Bernardini, E. and Biland, A. and Blanch Bigas, O. and Bock, R. K. and Boller, A. and Bonnoli, G. and Bordas, Pol and Tridon, D. Borla and Bosch-Ramon, Valentin and Bose, D. and Braun, I. and Bretz, T. and Camara, M. and Carmona, E. and Carosi, A. and Colin, P. and Colombo, E. and Contreras, J. L. and Cortina, J. and Covino, S. and Dazzi, F. and de Angelis, A. and del Pozo, E. De Cea and De Lotto, B. and De Maria, M. and De Sabata, F. and Mendez, C. Delgado and Ortega, A. Diago and Doert, M. and Dominguez, A. and Prester, Dijana Dominis and Dorner, D. and Doro, M. and Elsaesser, D. and Ferenc, D. and Fonseca, M. V. and Font, L. and Lopen, R. J. Garcia and Garczarczyk, M. and Gaug, M. and Giavitto, G. and Godinovi, N. and Hadasch, D. and Herrero, A. and Hildebrand, D. and Hoehne-Moench, D. and Hose, J. and Hrupec, D. and Jogler, T. and Klepser, S. and Kraehenbuehl, T. and Kranich, D. and Krause, J. and La Barbera, A. and Leonardo, E. and Lindfors, E. and Lombardi, S. and Lopez, M. and Lorenz, E. and Majumdar, P. and Makariev, E. and Maneva, G. and Mankuzhiyil, N. and Mannheim, K. and Maraschi, L. and Mariotti, M. and Martinez, M. and Mazin, D. and Meucci, M. and Miranda, J. M. and Mirzoyan, R. and Miyamoto, H. and Moldon, J. and Moralejo, A. and Nieto, D. and Nilsson, K. and Orito, R. and Oya, I. and Paoletti, R. and Paredes, J. M. and Partini, S. and Pasanen, M. and Pauss, F. and Pegna, R. G. and Perez-Torres, M. A. and Persic, M. and Peruzzo, J. and Pochon, J. and Moroni, P. G. Prada and Prada, F. and Prandini, E. and Puchades, N. and Puljak, I. and Reichardt, T. and Reinthal, R. and Rhode, W. and Ribo, M. and Rico, J. and Rissi, M. and Ruegamer, S. and Saggion, A. and Saito, K. and Saito, T. Y. and Salvati, M. and Sanchez-Conde, M. and Satalecka, K. and Scalzotto, V. and Scapin, V. and Schultz, C. and Schweizer, T. and Shayduk, M. and Shore, S. N. and Sierpowska-Bartosik, A. and Sillanpaa, A. and Sitarek, J. and Sobczynska, D. and Spanier, F. and Spiro, S. and Stamerra, A. and Steinke, B. and Storz, J. and Strah, N. and Struebig, J. C. and Suric, T. and Takalo, L. O. and Tavecchio, F. and Temnikov, P. and Terzic, T. and Tescaro, D. and Teshima, M. and Vankov, H. and Wagner, R. M. and Weitzel, Q. and Zabalza, V. and Zandanel, F. and Zanin, R. and Acciari, V. A. and Arlen, T. and Aune, T. and Benbow, W. and Boltuch, D. and Bradbury, S. M. and Buckley, J. H. and Bugaev, V. and Cannon, A. and Cesarini, A. and Ciupik, L. and Cui, W. and Dickherber, R. and Errando, M. and Falcone, A. and Finley, J. P. and Finnegan, G. and Fortson, L. and Furniss, A. and Galante, N. and Gall, D. and Gillanders, G. H. and Godambe, S. and Grube, J. and Guenette, R. and Gyuk, G. and Hanna, D. and Holder, J. and Huang, D. and Hui, C. M. and Humensky, T. B. and Kaaret, P. and Karlsson, N. and Kertzman, M. and Kieda, D. and Konopelko, A. and Krawczynski, H. and Krennrich, F. and Lang, M. J. and Maier, G. and McArthur, S. and McCann, A. and McCutcheon, M. and Moriarty, P. and Mukherjee, R. and Ong, R. and Otte, N. and Pandel, D. and Perkins, J. S. and Pichel, A. and Pohl, M. and Quinn, J. and Ragan, K. and Reyes, L. C. and Reynolds, P. T. and Roache, E. and Rose, H. J. and Rovero, A. C. and Schroedter, M. and Sembroski, G. H. and Senturk, G. D. and Steele, D. and Swordy, S. P. and Tesic, G. and Theiling, M. and Thibadeau, S. and Varlotta, A. and Vincent, S. and Wakely, S. P. and Ward, J. E. and Weekes, T. C. and Weinstein, A. and Weisgarber, T. and Williams, D. A. and Wood, M. and Zitzer, B. and Villata, M. and Raiteri, C. M. and Aller, H. D. and Aller, M. F. and Arkharov, A. A. and Blinov, D. A. and Calcidese, P. and Chen, W. P. and Efimova, N. V. and Kimeridze, G. and Konstantinova, T. S. and Kopatskaya, E. N. and Koptelova, E. and Kurtanidze, O. M. and Kurtanidze, S. O. and Lahteenmaki, A. and Larionov, V. M. and Larionova, E. G. and Larionova, L. V. and Ligustri, R. and Morozova, D. A. and Nikolashvili, M. G. and Sigua, L. A. and Troitsky, I. S. and Angelakis, E. and Capalbi, M. and Carraminana, A. and Carrasco, L. and Cassaro, P. and de la Fuente, E. and Gurwell, M. A. and Kovalev, Y. Y. and Kovalev, Yu. A. and Krichbaum, T. P. and Krimm, H. A. and Leto, Paolo and Lister, M. L. and Maccaferri, G. and Moody, J. W. and Mori, Y. and Nestoras, I. and Orlati, A. and Pagani, C. and Pace, C. and Pearson, R. and Perri, M. and Piner, B. G. and Pushkarev, A. B. and Ros, E. and Sadun, A. C. and Sakamoto, T. and Tornikoski, M. and Yatsu, Y. and Zook, A.}, title = {Insights into the high-energy gamma-Ray emission of markarian 501 fromextensive multifrequency observations in the fermi era}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, volume = {727}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, number = {2}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, organization = {Fermi-LAT Collaboration, MAGIC Collaboration, VERITAS Collaboration}, issn = {0004-637X}, doi = {10.1088/0004-637X/727/2/129}, pages = {26}, year = {2011}, abstract = {We report on the gamma-ray activity of the blazar Mrk 501 during the first 480 days of Fermi operation. We find that the average Large Area Telescope (LAT) gamma-ray spectrum of Mrk 501 can be well described by a single power-law function with a photon index of 1.78 +/- 0.03. While we observe relatively mild flux variations with the Fermi-LAT (within less than a factor of two), we detect remarkable spectral variability where the hardest observed spectral index within the LAT energy range is 1.52 +/- 0.14, and the softest one is 2.51 +/- 0.20. These unexpected spectral changes do not correlate with the measured flux variations above 0.3 GeV. In this paper, we also present the first results from the 4.5 month long multifrequency campaign (2009 March 15-August 1) on Mrk 501, which included the Very Long Baseline Array (VLBA), Swift, RXTE, MAGIC, and VERITAS, the F-GAMMA, GASP-WEBT, and other collaborations and instruments which provided excellent temporal and energy coverage of the source throughout the entire campaign. The extensive radio to TeV data set from this campaign provides us with the most detailed spectral energy distribution yet collected for this source during its relatively low activity. The average spectral energy distribution of Mrk 501 is well described by the standard one-zone synchrotron self-Compton (SSC) model. In the framework of this model, we find that the dominant emission region is characterized by a size less than or similar to 0.1 pc (comparable within a factor of few to the size of the partially resolved VLBA core at 15-43 GHz), and that the total jet power (similar or equal to 10(44) erg s(-1)) constitutes only a small fraction (similar to 10(-3)) of the Eddington luminosity. The energy distribution of the freshly accelerated radiating electrons required to fit the time-averaged data has a broken power-law form in the energy range 0.3 GeV-10 TeV, with spectral indices 2.2 and 2.7 below and above the break energy of 20 GeV. We argue that such a form is consistent with a scenario in which the bulk of the energy dissipation within the dominant emission zone of Mrk 501 is due to relativistic, proton-mediated shocks. We find that the ultrarelativistic electrons and mildly relativistic protons within the blazar zone, if comparable in number, are in approximate energy equipartition, with their energy dominating the jet magnetic field energy by about two orders of magnitude.}, language = {en} } @article{AbeysekaraArcherBenbowetal.2018, author = {Abeysekara, A. U. and Archer, A. and Benbow, Wystan and Bird, Ralph and Brose, Robert and Buchovecky, M. and Buckley, J. H. and Bugaev, V. and Chromey, A. J. and Connolly, M. P. and Cui, Wei and Daniel, M. K. and Falcone, A. and Feng, Qi and Finley, John P. and Fortson, L. and Furniss, Amy and Huetten, M. and Hanna, David and Hervet, O. and Holder, J. and Hughes, G. and Humensky, T. B. and Johnson, Caitlin A. and Kaaret, Philip and Kar, P. and Kertzman, M. and Kieda, David and Krause, M. and Krennrich, F. and Kumar, S. and Lang, M. J. and Lin, T. T. Y. and McArthur, S. and Moriarty, P. and Mukherjee, Reshmi and Ong, R. A. and Otte, Adam Nepomuk and Park, Nahee and Petrashyk, A. and Pohl, Martin and Pueschel, Elisa and Quinn, J. and Ragan, K. and Reynolds, P. T. and Richards, Gregory T. and Roache, E. and Rulten, C. and Sadeh, I. and Santander, Marcos and Sembroski, G. H. and Shahinyan, Karlen and Sushch, I. and Tyler, J. and Wakely, S. P. and Weinstein, A. and Wells, R. M. and Wilcox, P. and Wilhelm, Alina and Williams, D. A. and Williamson, T. J. and Zitzer, B. and Abdollahi, S. and Ajello, Marco and Baldini, Luca and Barbiellini, G. and Bastieri, Denis and Bellazzini, Ronaldo and Berenji, B. and Bissaldi, Elisabetta and Blandford, R. D. and Bonino, R. and Bottacini, E. and Brandt, Terri J. and Bruel, P. and Buehler, R. and Cameron, R. A. and Caputo, R. and Caraveo, P. A. and Castro, D. and Cavazzuti, E. and Charles, Eric and Chiaro, G. and Ciprini, S. and Cohen-Tanugi, Johann and Costantin, D. and Cutini, S. and de Palma, F. and Di Lalla, N. and Di Mauro, M. and Di Venere, L. and Dominguez, A. and Favuzzi, C. and Fegan, S. J. and Franckowiak, Anna and Fukazawa, Yasushi and Funk, Stefan and Fusco, Piergiorgio and Gargano, Fabio and Gasparrini, Dario and Giglietto, Nicola and Giordano, F. and Giroletti, Marcello and Green, D. and Grenier, I. A. and Guillemot, L. and Guiriec, Sylvain and Hays, Elizabeth and Hewitt, John W. and Horan, D. and Johannesson, G. and Kensei, S. and Kuss, M. and Larsson, Stefan and Latronico, L. and Lemoine-Goumard, Marianne and Li, J. and Longo, Francesco and Loparco, Francesco and Lovellette, M. N. and Lubrano, Pasquale and Magill, Jeffrey D. and Maldera, Simone and Mazziotta, Mario Nicola and McEnery, J. E. and Michelson, P. F. and Mitthumsiri, W. and Mizuno, Tsunefumi and Monzani, Maria Elena and Morselli, Aldo and Moskalenko, Igor V. and Negro, M. and Nuss, E. and Ojha, R. and Omodei, Nicola and Orienti, M. and Orlando, E. and Palatiello, M. and Paliya, Vaidehi S. and Paneque, D. and Perkins, Jeremy S. and Persic, M. and Pesce-Rollins, Melissa and Petrosian, Vahe' and Piron, F. and Porter, Troy A. and Principe, G. and Raino, S. and Rando, Riccardo and Rani, B. and Razzano, Massimilano and Razzaque, Soebur and Reimer, A. and Reimer, Olaf and Reposeur, T. and Sgro, C. and Siskind, E. J. and Spandre, Gloria and Spinelli, P. and Suson, D. J. and Tajima, Hiroyasu and Thayer, J. B. and Thompson, David J. and Torres, Diego F. and Tosti, Gino and Troja, Eleonora and Valverde, J. and Vianello, Giacomo and Vogel, M. and Wood, K. and Yassine, M. and Alfaro, R. and Alvarez, C. and Alvarez, J. D. and Arceo, R. and Arteaga-Velazquez, J. C. and Rojas, D. Avila and Ayala Solares, H. A. and Becerril, A. and Belmont-Moreno, E. and BenZvi, S. Y. and Bernal, A. and Braun, J. and Brisbois, C. and Caballero-Mora, K. S. and Capistran, T. and Carraminana, A. and Casanova, Sabrina and Castillo, M. and Cotti, U. and Cotzomi, J. and Coutino de Leon, S. and De Leon, C. and De la Fuente, E. and Dichiara, S. and Dingus, B. L. and DuVernois, M. A. and Diaz-Velez, J. C. and Engel, K. and Enriquez-Rivera, O. and Fiorino, D. W. and Fleischhack, H. and Fraija, N. and Garcia-Gonzalez, J. A. and Garfias, F. and Gonzalez Munoz, A. and Gonzalez, M. M. and Goodman, J. A. and Hampel-Arias, Z. and Harding, J. P. and Hernandez, S. and Hernandez-Almada, A. and Hona, B. and Hueyotl-Zahuantitla, F. and Hui, C. M. and Huntemeyer, P. and Iriarte, A. and Jardin-Blicq, A. and Joshi, V. and Kaufmann, S. and Lara, A. and Lauer, R. J. and Lee, W. H. and Lennarz, D. and Leon Vargas, H. and Linnemann, J. T. and Longinotti, A. L. and Luis-Raya, G. and Luna-Garcia, R. and Lopez-Coto, R. and Malone, K. and Marinelli, S. S. and Martinez, O. and Martinez-Castellanos, I. and Martinez-Castro, J. and Martinez-Huerta, H. and Matthews, J. A. and Miranda-Romagnoli, P. and Moreno, E. and Mostafa, M. and Nayerhoda, A. and Nellen, L. and Newbold, M. and Nisa, M. U. and Noriega-Papaqui, R. and Pelayo, R. and Pretz, J. and Perez-Perez, E. G. and Ren, Z. and Rho, C. D. and Riviere, C. and Rosa-Gonzalez, D. and Rosenberg, M. and Ruiz-Velasco, E. and Salazar, H. and Greus, F. Salesa and Sandoval, A. and Schneider, M. and Arroyo, M. Seglar and Sinnis, G. and Smith, A. J. and Springer, R. W. and Surajbali, P. and Taboada, Ignacio and Tibolla, O. and Tollefson, K. and Torres, I. and Ukwatta, Tilan N. and Villasenor, L. and Weisgarber, T. and Westerhoff, Stefan and Wisher, I. G. and Wood, J. and Yapici, Tolga and Yodh, G. and Zepeda, A. and Zhou, H.}, title = {VERITAS and Fermi-LAT Observations of TeV Gamma-Ray Sources Discovered by HAWC in the 2HWC Catalog}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, volume = {866}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, number = {1}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, organization = {VERITAS Collaboration Fermi-LAT Collaboration HAWC Collaboration}, issn = {0004-637X}, doi = {10.3847/1538-4357/aade4e}, pages = {18}, year = {2018}, abstract = {The High Altitude Water Cherenkov (HAWC) collaboration recently published their 2HWC catalog, listing 39 very high energy (VHE; >100 GeV) gamma-ray sources based on 507 days of observation. Among these, 19 sources are not associated with previously known teraelectronvolt (TeV) gamma-ray sources. We have studied 14 of these sources without known counterparts with VERITAS and Fermi-LAT. VERITAS detected weak gamma-ray emission in the 1 TeV-30 TeV band in the region of DA 495, a pulsar wind nebula coinciding with 2HWC J1953+294, confirming the discovery of the source by HAWC. We did not find any counterpart for the selected 14 new HAWC sources from our analysis of Fermi-LAT data for energies higher than 10 GeV. During the search, we detected gigaelectronvolt (GeV) gamma-ray emission coincident with a known TeV pulsar wind nebula, SNR G54.1+0.3 (VER J1930+188), and a 2HWC source, 2HWC J1930+188. The fluxes for isolated, steady sources in the 2HWC catalog are generally in good agreement with those measured by imaging atmospheric Cherenkov telescopes. However, the VERITAS fluxes for SNR G54.1+0.3, DA 495, and TeV J2032+4130 are lower than those measured by HAWC, and several new HAWC sources are not detected by VERITAS. This is likely due to a change in spectral shape, source extension, or the influence of diffuse emission in the source region.}, language = {en} } @article{ArchambaultAuneBeheraetal.2014, author = {Archambault, S. and Aune, T. and Behera, B. and Beilicke, M. and Benbow, W. and Berger, K. and Bird, R. and Biteau, Jonathan and Bugaev, V. and Byrum, K. and Cardenzana, J. V. and Cerruti, M. and Chen, Xuhui and Ciupik, L. and Connolly, M. P. and Cui, Wei and Dumm, J. and Errando, M. and Falcone, A. and Federici, Simone and Feng, Q. and Finley, J. P. and Fleischhack, H. and Fortson, L. and Furniss, A. and Galante, N. and Gillanders, G. H. and Griffin, S. and Griffiths, S. T. and Grube, J. and Gyuk, G. and Hanna, D. and Holder, J. and Hughes, G. and Humensky, T. B. and Johnson, C. A. and Kaaret, P. and Kertzman, M. and Khassen, Y. and Kieda, D. and Krawczynski, H. and Krennrich, F. and Kumar, S. and Lang, M. J. and Madhavan, A. S. and Maier, G. and McCann, A. and Meagher, K. and Moriarty, P. and Mukherjee, R. and Nieto, Daniel and Ong, R. A. and Otte, A. N. and Park, N. and Pohl, Martin and Popkow, A. and Prokoph, H. and Quinn, J. and Ragan, K. and Rajotte, J. and Reyes, L. C. and Reynolds, P. T. and Richards, G. T. and Roache, E. and Sembroski, G. H. and Shahinyan, K. and Staszak, D. and Telezhinsky, Igor O. and Tucci, J. V. and Tyler, J. and Varlotta, A. and Vassiliev, V. V. and Vincent, S. and Wakely, S. P. and Weinstein, A. and Welsing, R. and Wilhelm, Alina and Williams, D. A. and Ackermann, Margit and Ajello, M. and Albert, A. and Baldini, L. and Bastieri, D. and Bellazzini, R. and Bissaldi, E. and Bregeon, Johan and Buehler, R. and Buson, S. and Caliandro, G. A. and Cameron, R. A. and Caraveo, P. A. and Cavazzuti, E. and Charles, E. and Chiang, J. and Ciprini, S. and Claus, R. and Cutini, S. and de Angelis, A. and de Palma, F. and Dermer, C. D. and Digel, S. W. and Di Venere, L. and Drell, P. S. and Favuzzi, C. and Franckowiak, A. and Fusco, P. and Gargano, F. and Gasparrini, D. and Giglietto, N. and Giordano, F. and Giroletti, M. and Grenier, I. A. and Guiriec, S. and Jogler, T. and Kuss, M. and Larsson, S. and Latronico, L. and Longo, F. and Loparco, F. and Lubrano, P. and Madejski, G. M. and Mayer, M. and Mazziotta, Mario Nicola and Michelson, P. F. and Mizuno, T. and Monzani, M. E. and Morselli, Aldo and Murgia, S. and Nuss, E. and Ohsugi, T. and Ormes, J. F. and Paneque, D. and Perkins, J. S. and Piron, F. and Pivato, G. and Raino, S. and Razzano, M. and Reimer, A. and Reimer, Olaf and Ritz, S. and Schaal, M. and Sgro, C. and Siskind, E. J. and Spinelli, P. and Takahashi, H. and Tibaldo, L. and Tinivella, M. and Troja, E. and Vianello, G. and Werner, M. and Wood, M.}, title = {Deep broadband observations of the distant gamma-ray blazar PKS 1424+240}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics ; Part 2, Letters}, volume = {785}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics ; Part 2, Letters}, number = {1}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, organization = {VERITAS Collaboration, Fermi LAT Collaboration}, issn = {2041-8205}, doi = {10.1088/2041-8205/785/1/L16}, pages = {8}, year = {2014}, abstract = {We present deep VERITAS observations of the blazar PKS 1424+240, along with contemporaneous Fermi Large Area Telescope, Swift X-ray Telescope, and Swift UV Optical Telescope data between 2009 February 19 and 2013 June 8. This blazar resides at a redshift of z >= 0.6035, displaying a significantly attenuated gamma-ray flux above 100 GeV due to photon absorption via pair-production with the extragalactic background light. We present more than 100 hr of VERITAS observations over three years, a multiwavelength light curve, and the contemporaneous spectral energy distributions. The source shows a higher flux of (2.1 +/- 0.3) x 10(-7) photons m(-2) s(-1) above 120 GeV in 2009 and 2011 as compared to the flux measured in 2013, corresponding to (1.02 +/- 0.08) x 10-7 photons m(-2) s(-1) above 120 GeV. The measured differential very high energy (VHE; E >= 100 GeV) spectral indices are Gamma = 3.8 +/- 0.3, 4.3 +/- 0.6 and 4.5 +/- 0.2 in 2009, 2011, and 2013, respectively. No significant spectral change across the observation epochs is detected. We find no evidence for variability at gamma-ray opacities of greater than tau = 2, where it is postulated that any variability would be small and occur on timescales longer than a year if hadronic cosmic-ray interactions with extragalactic photon fields provide a secondary VHE photon flux. The data cannot rule out such variability due to low statistics.}, language = {en} } @article{WarringtonBeaumontHorikoshietal.2019, author = {Warrington, Nicole and Beaumont, Robin and Horikoshi, Momoko and Day, Felix R. and Helgeland, {\O}yvind and Laurin, Charles and Bacelis, Jonas and Peng, Shouneng and Hao, Ke and Feenstra, Bjarke and Wood, Andrew R. and Mahajan, Anubha and Tyrrell, Jessica and Robertson, Neil R. and Rayner, N. William and Qiao, Zhen and Moen, Gunn-Helen and Vaudel, Marc and Marsit, Carmen and Chen, Jia and Nodzenski, Michael and Schnurr, Theresia M. and Zafarmand, Mohammad Hadi and Bradfield, Jonathan P. and Grarup, Niels and Kooijman, Marjolein N. and Li-Gao, Ruifang and Geller, Frank and Ahluwalia, Tarunveer Singh and Paternoster, Lavinia and Rueedi, Rico and Huikari, Ville and Hottenga, Jouke-Jan and Lyytik{\"a}inen, Leo-Pekka and Cavadino, Alana and Metrustry, Sarah and Cousminer, Diana L. and Wu, Ying and Thiering, Elisabeth Paula and Wang, Carol A. and Have, Christian Theil and Vilor-Tejedor, Natalia and Joshi, Peter K. and Painter, Jodie N. and Ntalla, Ioanna and Myhre, Ronny and Pitk{\"a}nen, Niina and van Leeuwen, Elisabeth M. and Joro, Raimo and Lagou, Vasiliki and Richmond, Rebecca C. and Espinosa, Ana and Barton, Sheila J. and Inskip, Hazel M. and Holloway, John W. and Santa-Marina, Loreto and Estivill, Xavier and Ang, Wei and Marsh, Julie A. and Reichetzeder, Christoph and Marullo, Letizia and Hocher, Berthold and Lunetta, Kathryn L. and Murabito, Joanne M. and Relton, Caroline L. and Kogevinas, Manolis and Chatzi, Leda and Allard, Catherine and Bouchard, Luigi and Hivert, Marie-France and Zhang, Ge and Muglia, Louis J. and Heikkinen, Jani and Morgen, Camilla S. and van Kampen, Antoine H. C. and van Schaik, Barbera D. C. and Mentch, Frank D. and Langenberg, Claudia and Scott, Robert A. and Zhao, Jing Hua and Hemani, Gibran and Ring, Susan M. and Bennett, Amanda J. and Gaulton, Kyle J. and Fernandez-Tajes, Juan and van Zuydam, Natalie R. and Medina-Gomez, Carolina and de Haan, Hugoline G. and Rosendaal, Frits R. and Kutalik, Zolt{\´a}n and Marques-Vidal, Pedro and Das, Shikta and Willemsen, Gonneke and Mbarek, Hamdi and M{\"u}ller-Nurasyid, Martina and Standl, Marie and Appel, Emil V. R. and Fonvig, Cilius Esmann and Trier, Caecilie and van Beijsterveldt, Catharina E. M. and Murcia, Mario and Bustamante, Mariona and Bon{\`a}s-Guarch, S{\´i}lvia and Hougaard, David M. and Mercader, Josep M. and Linneberg, Allan and Schraut, Katharina E. and Lind, Penelope A. and Medland, Sarah Elizabeth and Shields, Beverley M. and Knight, Bridget A. and Chai, Jin-Fang and Panoutsopoulou, Kalliope and Bartels, Meike and S{\´a}nchez, Friman and Stokholm, Jakob and Torrents, David and Vinding, Rebecca K. and Willems, Sara M. and Atalay, Mustafa and Chawes, Bo L. and Kovacs, Peter and Prokopenko, Inga and Tuke, Marcus A. and Yaghootkar, Hanieh and Ruth, Katherine S. and Jones, Samuel E. and Loh, Po-Ru and Murray, Anna and Weedon, Michael N. and T{\"o}njes, Anke and Stumvoll, Michael and Michaelsen, Kim Fleischer and Eloranta, Aino-Maija and Lakka, Timo A. and van Duijn, Cornelia M. and Kiess, Wieland and Koerner, Antje and Niinikoski, Harri and Pahkala, Katja and Raitakari, Olli T. and Jacobsson, Bo and Zeggini, Eleftheria and Dedoussis, George V. and Teo, Yik-Ying and Saw, Seang-Mei and Montgomery, Grant W. and Campbell, Harry and Wilson, James F. and Vrijkotte, Tanja G. M. and Vrijheid, Martine and de Geus, Eco J. C. N. and Hayes, M. Geoffrey and Kadarmideen, Haja N. and Holm, Jens-Christian and Beilin, Lawrence J. and Pennell, Craig E. and Heinrich, Joachim and Adair, Linda S. and Borja, Judith B. and Mohlke, Karen L. and Eriksson, Johan G. and Widen, Elisabeth E. and Hattersley, Andrew T. and Spector, Tim D. and Kaehoenen, Mika and Viikari, Jorma S. and Lehtimaeki, Terho and Boomsma, Dorret I. and Sebert, Sylvain and Vollenweider, Peter and Sorensen, Thorkild I. A. and Bisgaard, Hans and Bonnelykke, Klaus and Murray, Jeffrey C. and Melbye, Mads and Nohr, Ellen A. and Mook-Kanamori, Dennis O. and Rivadeneira, Fernando and Hofman, Albert and Felix, Janine F. and Jaddoe, Vincent W. V. and Hansen, Torben and Pisinger, Charlotta and Vaag, Allan A. and Pedersen, Oluf and Uitterlinden, Andre G. and Jarvelin, Marjo-Riitta and Power, Christine and Hypponen, Elina and Scholtens, Denise M. and Lowe, William L. and Smith, George Davey and Timpson, Nicholas J. and Morris, Andrew P. and Wareham, Nicholas J. and Hakonarson, Hakon and Grant, Struan F. A. and Frayling, Timothy M. and Lawlor, Debbie A. and Njolstad, Pal R. and Johansson, Stefan and Ong, Ken K. and McCarthy, Mark I. and Perry, John R. B. and Evans, David M. and Freathy, Rachel M.}, title = {Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors}, series = {Nature genetics}, volume = {51}, journal = {Nature genetics}, number = {5}, publisher = {Nature Publ. Group}, address = {New York}, organization = {EGG Consortium}, issn = {1061-4036}, pages = {804 -- +}, year = {2019}, abstract = {Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.}, language = {en} } @article{ReadKegelKluteetal.2013, author = {Read, Betsy A. and Kegel, Jessica and Klute, Mary J. and Kuo, Alan and Lefebvre, Stephane C. and Maumus, Florian and Mayer, Christoph and Miller, John and Monier, Adam and Salamov, Asaf and Young, Jeremy and Aguilar, Maria and Claverie, Jean-Michel and Frickenhaus, Stephan and Gonzalez, Karina and Herman, Emily K. and Lin, Yao-Cheng and Napier, Johnathan and Ogata, Hiroyuki and Sarno, Analissa F. and Shmutz, Jeremy and Schroeder, Declan and de Vargas, Colomban and Verret, Frederic and von Dassow, Peter and Valentin, Klaus and Van de Peer, Yves and Wheeler, Glen and Dacks, Joel B. and Delwiche, Charles F. and Dyhrman, Sonya T. and Gl{\"o}ckner, Gernot and John, Uwe and Richards, Thomas and Worden, Alexandra Z. and Zhang, Xiaoyu and Grigoriev, Igor V. and Allen, Andrew E. and Bidle, Kay and Borodovsky, M. and Bowler, C. and Brownlee, Colin and Cock, J. Mark and Elias, Marek and Gladyshev, Vadim N. and Groth, Marco and Guda, Chittibabu and Hadaegh, Ahmad and Iglesias-Rodriguez, Maria Debora and Jenkins, J. and Jones, Bethan M. and Lawson, Tracy and Leese, Florian and Lindquist, Erika and Lobanov, Alexei and Lomsadze, Alexandre and Malik, Shehre-Banoo and Marsh, Mary E. and Mackinder, Luke and Mock, Thomas and M{\"u}ller-R{\"o}ber, Bernd and Pagarete, Antonio and Parker, Micaela and Probert, Ian and Quesneville, Hadi and Raines, Christine and Rensing, Stefan A. and Riano-Pachon, Diego Mauricio and Richier, Sophie and Rokitta, Sebastian and Shiraiwa, Yoshihiro and Soanes, Darren M. and van der Giezen, Mark and Wahlund, Thomas M. and Williams, Bryony and Wilson, Willie and Wolfe, Gordon and Wurch, Louie L.}, title = {Pan genome of the phytoplankton Emiliania underpins its global distribution}, series = {Nature : the international weekly journal of science}, volume = {499}, journal = {Nature : the international weekly journal of science}, number = {7457}, publisher = {Nature Publ. Group}, address = {London}, organization = {Emiliania Huxleyi Annotation}, issn = {0028-0836}, doi = {10.1038/nature12221}, pages = {209 -- 213}, year = {2013}, abstract = {Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.}, language = {en} } @article{CopeBaukmannKlingeretal.2021, author = {Cope, Justin L. and Baukmann, Hannes A. and Klinger, J{\"o}rn E. and Ravarani, Charles N. J. and B{\"o}ttinger, Erwin and Konigorski, Stefan and Schmidt, Marco F.}, title = {Interaction-based feature selection algorithm outperforms polygenic risk score in predicting Parkinson's Disease status}, series = {Frontiers in genetics}, volume = {12}, journal = {Frontiers in genetics}, publisher = {Frontiers Media}, address = {Lausanne}, issn = {1664-8021}, doi = {10.3389/fgene.2021.744557}, pages = {9}, year = {2021}, abstract = {Polygenic risk scores (PRS) aggregating results from genome-wide association studies are the state of the art in the prediction of susceptibility to complex traits or diseases, yet their predictive performance is limited for various reasons, not least of which is their failure to incorporate the effects of gene-gene interactions. Novel machine learning algorithms that use large amounts of data promise to find gene-gene interactions in order to build models with better predictive performance than PRS. Here, we present a data preprocessing step by using data-mining of contextual information to reduce the number of features, enabling machine learning algorithms to identify gene-gene interactions. We applied our approach to the Parkinson's Progression Markers Initiative (PPMI) dataset, an observational clinical study of 471 genotyped subjects (368 cases and 152 controls). With an AUC of 0.85 (95\% CI = [0.72; 0.96]), the interaction-based prediction model outperforms the PRS (AUC of 0.58 (95\% CI = [0.42; 0.81])). Furthermore, feature importance analysis of the model provided insights into the mechanism of Parkinson's disease. For instance, the model revealed an interaction of previously described drug target candidate genes TMEM175 and GAPDHP25. These results demonstrate that interaction-based machine learning models can improve genetic prediction models and might provide an answer to the missing heritability problem.}, language = {en} } @article{IkramFornageSmithetal.2012, author = {Ikram, M. Arfan and Fornage, Myriam and Smith, Albert V. and Seshadri, Sudha and Schmidt, Reinhold and Debette, Stephanie and Vrooman, Henri A. and Sigurdsson, Sigurdur and Ropele, Stefan and Taal, H. Rob and Mook-Kanamori, Dennis O. and Coker, Laura H. and Longstreth, W. T. and Niessen, Wiro J. and DeStefano, Anita L. and Beiser, Alexa and Zijdenbos, Alex P. and Struchalin, Maksim and Jack, Clifford R. and Rivadeneira, Fernando and Uitterlinden, Andre G. and Knopman, David S. and Hartikainen, Anna-Liisa and Pennell, Craig E. and Thiering, Elisabeth and Steegers, Eric A. P. and Hakonarson, Hakon and Heinrich, Joachim and Palmer, Lyle J. and Jarvelin, Marjo-Riitta and McCarthy, Mark I. and Grant, Struan F. A. and St Pourcain, Beate and Timpson, Nicholas J. and Smith, George Davey and Sovio, Ulla and Nalls, Mike A. and Au, Rhoda and Hofman, Albert and Gudnason, Haukur and van der Lugt, Aad and Harris, Tamara B. and Meeks, William M. and Vernooij, Meike W. and van Buchem, Mark A. and Catellier, Diane and Jaddoe, Vincent W. V. and Gudnason, Vilmundur and Windham, B. Gwen and Wolf, Philip A. and van Duijn, Cornelia M. and Mosley, Thomas H. and Schmidt, Helena and Launer, Lenore J. and Breteler, Monique M. B. and DeCarli, Charles and Adair, Linda S. and Ang, Wei and Atalay, Mustafa and vanBeijsterveldt, Toos and Bergen, Nienke and Benke, Kelly and Berry, Diane J. and Coin, Lachlan and Davis, Oliver S. P. and Elliott, Paul and Flexeder, Claudia and Frayling, Tim and Gaillard, Romy and Groen-Blokhuis, Maria and Goh, Liang-Kee and Haworth, Claire M. A. and Hadley, Dexter and Hebebrand, Johannes and Hinney, Anke and Hirschhorn, Joel N. and Holloway, John W. and Holst, Claus and Hottenga, Jouke Jan and Horikoshi, Momoko and Huikari, Ville and Hypponen, Elina and Kilpelainen, Tuomas O. and Kirin, Mirna and Kowgier, Matthew and Lakka, Hanna-Maaria and Lange, Leslie A. and Lawlor, Debbie A. and Lehtimaki, Terho and Lewin, Alex and Lindgren, Cecilia and Lindi, Virpi and Maggi, Reedik and Marsh, Julie and Middeldorp, Christel and Millwood, Iona and Murray, Jeffrey C. and Nivard, Michel and Nohr, Ellen Aagaard and Ntalla, Ioanna and Oken, Emily and Panoutsopoulou, Kalliope and Pararajasingham, Jennifer and Rodriguez, Alina and Salem, Rany M. and Sebert, Sylvain and Siitonen, Niina and Strachan, David P. and Teo, Yik-Ying and Valcarcel, Beatriz and Willemsen, Gonneke and Zeggini, Eleftheria and Boomsma, Dorret I. and Cooper, Cyrus and Gillman, Matthew and Hocher, Berthold and Lakka, Timo A. and Mohlke, Karen L. and Dedoussis, George V. and Ong, Ken K. and Pearson, Ewan R. and Price, Thomas S. and Power, Chris and Raitakari, Olli T. and Saw, Seang-Mei and Scherag, Andre and Simell, Olli and Sorensen, Thorkild I. A. and Wilson, James F.}, title = {Common variants at 6q22 and 17q21 are associated with intracranial volume}, series = {Nature genetics}, volume = {44}, journal = {Nature genetics}, number = {5}, publisher = {Nature Publ. Group}, address = {New York}, organization = {Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genomic Ep}, issn = {1061-4036}, doi = {10.1038/ng.2245}, pages = {539 -- +}, year = {2012}, abstract = {During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.}, language = {en} } @article{CockellVoytekGronstaletal.2012, author = {Cockell, Charles S. and Voytek, Mary A. and Gronstal, Aaron L. and Finster, Kai and Kirshtein, Julie D. and Howard, Kieren and Reitner, Joachim and Gohn, Gregory S. and Sanford, Ward E. and Horton, J. Wright and Kallmeyer, Jens and Kelly, Laura and Powars, David S.}, title = {Impact disruption and recovery of the deep subsurface biosphere}, series = {Astrobiology}, volume = {12}, journal = {Astrobiology}, number = {3}, publisher = {Liebert}, address = {New Rochelle}, issn = {1531-1074}, doi = {10.1089/ast.2011.0722}, pages = {231 -- 246}, year = {2012}, abstract = {Although a large fraction of the world's biomass resides in the subsurface, there has been no study of the effects of catastrophic disturbance on the deep biosphere and the rate of its subsequent recovery. We carried out an investigation of the microbiology of a 1.76 km drill core obtained from the similar to 35 million-year-old Chesapeake Bay impact structure, USA, with robust contamination control. Microbial enumerations displayed a logarithmic downward decline, but the different gradient, when compared to previously studied sites, and the scatter of the data are consistent with a rnicrobiota influenced by the geological disturbances caused by the impact. Microbial abundance is low in buried crater-fill, ocean-resurge, and avalanche deposits despite the presence of redox couples for growth. Coupled with the low hydraulic conductivity, the data suggest the microbial community has not yet recovered from the impact similar to 35 million years ago. Microbial enumerations, molecular analysis of microbial enrichment cultures, and geochemical analysis showed recolonization of a deep region of impact-fractured rock that was heated to above the upper temperature limit for life at the time of impact. These results show how, by fracturing subsurface rocks, impacts can extend the depth of the biosphere. This phenomenon would have provided deep refugia for life on the more heavily bombarded early Earth, and it shows that the deeply fractured regions of impact craters are promising targets to study the past and present habitability of Mars.}, language = {en} }