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Casey, Jillian P. ; Magalhães, Tiago R. ; Conroy, Judith M. ; Regan, Regina ; Shah, Naisha ; Anney, Richard ; Shields, Denis C. ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Cali, Phil ; Correia, Catarina ; Corsello, Christina ; Coutanche, Marc ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Foley, Suzanne ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lamb, Janine A. ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lord, Catherine ; Lund, Sabata C. ; Maestrini, Elena ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Miller, Judith ; Minopoli, Fiorella ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Nygren, Gudrun ; Oliveira, Guiomar ; Pagnamenta, Alistair T. ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Pickles, Andrew ; Pinto, Dalila ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Ragoussis, Jiannis ; Roge, Bernadette ; Rutter, Michael L. ; Sequeira, Ana F. ; Soorya, Latha ; Sousa, Inês ; Sykes, Nuala ; Stoppioni, Vera ; Tancredi, Raffaella ; Tauber, Maïté ; Thompson, Ann P. ; Thomson, Susanne ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, Jacob A. S. ; Wallace, Simon ; Wang, Kai ; Wassink, Thomas H. ; White, Kathy ; Wing, Kirsty ; Wittemeyer, Kerstin ; Yaspan, Brian L. ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Hallmayer, Joachim ; Monaco, Anthony P. ; Nurnberger, John I. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Green, Andrew ; Gill, Michael ; Gallagher, Louise ; Vicente, Astrid M. ; Ennis, Sean
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
Acharya, Shreyasi ; Torales Acosta, Fernando ; Adamová, Dagmar ; Adhya, Souvik Priyam ; Adler, Alexander ; Adolfsson, Jonatan ; Aggarwal, Madan Mohan ; Aglieri Rinella, Gianluca ; Agnello, Michelangelo ; Agrawal, Neelima ; Ahammed, Zubayer ; Ahmad, Shakeel ; Ahn, Sang Un ; Aiola, Salvatore ; Akindinov, Alexander ; Al-Turany, Mohammad ; Alam, Sk Noor ; Albuquerque, Danilo Silva de ; Aleksandrov, Dmitry ; Alessandro, Bruno ; Alfanda, Haidar Mas’ud ; Alfaro Molina, Jose Ruben ; Ali, Yasir ; Alici, Andrea ; Alkin, Anton ; Alme, Johan ; Alt, Torsten ; Altenkämper, Lucas ; Altsybeev, Igor ; Anaam, Mustafa Naji ; Andrei, Cristian ; Andreou, Dimitra ; Andrews, Harry Arthur ; Andronic, Anton ; Angeletti, Massimo ; Anguelov, Venelin ; Anson, Christopher Daniel ; Antičić, Tome ; Antinori, Federico ; Antonioli, Pietro ; Anwar, Rafay ; Apadula, Nicole ; Aphecetche, Laurent Bernard ; Appelshäuser, Harald ; Arcelli, Silvia ; Arnaldi, Roberta ; Arratia, Miguel ; Arsene, Ionut Cristian ; Arslandok, Mesut ; Augustinus, Andre ; Averbeck, Ralf Peter ; Azmi, Mohd Danish ; Badalà, Angela ; Baek, Yong Wook ; Bagnasco, Stefano ; Bailhache, Raphaëlle ; Bala, Renu ; Baldisseri, Alberto ; Ball, Markus ; Baral, Rama Chandra ; Barbera, Roberto ; Barioglio, Luca ; Barnaföldi, Gergely Gábor ; Barnby, Lee Stuart ; Barret, Valerie ; Bartalini, Paolo ; Barth, Klaus ; Bartsch, Esther ; Bastid, Nicole ; Basu, Sumit ; Batigne, Guillaume ; Batyunya, Boris ; Bätzing, Paul Christoph ; Bazo Alba, José Luis ; Bearden, Ian Gardner ; Beck, Hans ; Bedda, Cristina ; Behera, Nirbhay Kumar ; Belikov, Iouri ; Bellini, Francesca ; Bello Martinez, Hector ; Bellwied, Rene ; Espinoza Beltran, Lucina Gabriela ; Belyaev, Vladimir ; Bencédi, Gyula ; Beolè, Stefania ; Bercuci, Alexandru ; Berdnikov, Yaroslav ; Berényi, Dániel ; Bertens, Redmer Alexander ; Berzano, Dario ; Betev, Latchezar ; Bhasin, Anju ; Bhat, Inayat Rasool ; Bhatt, Himani ; Bhattacharjee, Buddhadeb ; Bhom, Jihyun ; Bianchi, Antonio ; Bianchi, Livio ; Bianchi, Nicola ; Bielčík, Jaroslav ; Bielčíková, Jana ; Bilandzic, Ante ; Biro, Gabor ; Biswas, Rathijit ; Biswas, Saikat ; Blair, Justin Thomas ; Blau, Dmitry S. ; Blume, Christoph ; Boca, Gianluigi ; Bock, Friederike ; Bogdanov, Alexey A. ; Boldizsár, László ; Bolozdynya, Alexander I. ; Bombara, Marek ; Bonomi, Germano ; Bonora, Matthias ; Borel, Hervé ; Borissov, Alexander ; Borri, Marcello ; Botta, Elena ; Bourjau, Christian ; Bratrud, Lars ; Braun-Munzinger, Peter ; Bregant, Marco ; Broker, Theo Alexander ; Broz, Michal ; Brücken, Erik Jens ; Bruna, Elena ; Bruno, Giuseppe Eugenio ; Budnikov, Dmitry ; Büsching, Henner ; Bufalino, Stefania ; Bühler, Paul ; Bunčić, Predrag ; Busch, Oliver ; Buthelezi, Edith Zinhle ; Butt, Jamila Bashir ; Buxton, Jesse Thomas ; Cabala, Jan ; Caffarri, Davide ; Caines, Helen Louise ; Caliva, Alberto ; Calvo Villar, Ernesto ; Soto Camacho, Rabi ; Camerini, Paolo ; Capon, Aaron Allan ; Carnesecchi, Francesca ; Castillo Castellanos, Javier Ernesto ; Castro, Andrew John ; Casula, Ester Anna Rita ; Ceballos Sanchez, Cesar ; Chandra, Sinjini ; Chang, Beom-Su ; Chang, Wan ; Chapeland, Sylvain ; Chartier, Marielle ; Chattopadhyay, Subhasis ; Chattopadhyay, Sukalyan ; Chauvin, Alex Henri Jean ; Cheshkov, Cvetan Valeriev ; Cheynis, Brigitte ; Chibante Barroso, Vasco Miguel ; Chinellato, David Dobrigkeit ; Cho, Soyeon ; Chochula, Peter ; Chowdhury, Tasnuva ; Christakoglou, Panagiotis ; Christensen, Christian Holm ; Christiansen, Peter L. ; Chujo, Tatsuya ; Cicalò, Corrado ; Cifarelli, Luisa ; Cindolo, Federico ; Cleymans, Jean Willy Andre ; Colamaria, Fabio Filippo ; Colella, Domenico ; Collu, Alberto ; Colocci, Manuel ; Concas, Matteo ; Conesa Balbastre, Gustavo ; Conesa del Valle, Zaida ; Contreras Nuno, Jesus Guillermo ; Cormier, Thomas Michael ; Corrales Morales, Yasser ; Cortese, Pietro ; Cosentino, Mauro Rogerio ; Costa, Filippo ; Costanza, Susanna ; Crkovská, Jana ; Crochet, Philippe ; Cuautle Flores, Eleazar ; Cunqueiro Mendez, Leticia ; Dąbrowski, Daniel ; Dahms, Torsten ; Dainese, Andrea ; Damas, Florian Paul André ; Dani, Sanskruti ; Danisch, Meike Charlotte ; Danu, Andrea ; Das, Debasish ; Das, Indranil ; Das, Supriya ; Dash, Ajay Kumar ; Dash, Sadhana ; De, Sudipan ; De Caro, Annalisa ; De Cataldo, Giacinto ; Conti, Camila de ; Cuveland, Jan de ; De Falco, Alessandro ; De Gruttola, Daniele ; De Marco, Nora ; De Pasquale, Salvatore ; Souza, Rafael Derradi de ; Degenhardt, Hermann Franz ; Deisting, Alexander ; Deloff, Andrzej ; Delsanto, Silvia ; Dhankher, Preeti ; Di Bari, Domenico ; Di Mauro, Antonio ; Arteche Díaz, Raúl ; Dietel, Thomas ; Dillenseger, Pascal ; Ding, Yanchun ; Divià, Roberto ; Djuvsland, Øystein ; Dobrin, Alexandru Florin ; Domenicis Gimenez, Diogenes ; Dönigus, Benjamin ; Dordic, Olja ; Dubey, Anand Kumar ; Dubla, Andrea ; Dudi, Sandeep ; Duggal, Ashpreet Kaur ; Dukhishyam, Mallick ; Dupieux, Pascal ; Ehlers, Raymond James ; Elia, Domenico ; Engel, Heiko ; Epple, Eliane ; Erazmus, Barbara Ewa ; Erhardt, Filip ; Erokhin, Andrey ; Ersdal, Magnus Rentsch ; Espagnon, Bruno ; Eulisse, Giulio ; Eum, Jongsik ; Evans, David ; Evdokimov, Sergey ; Fabbietti, Laura ; Faggin, Mattia ; Faivre, Julien ; Fantoni, Alessandra ; Fasel, Markus ; Feldkamp, Linus ; Feliciello, Alessandro ; Feofilov, Grigori A. ; Fernández Téllez, Arturo ; Ferrero, Andrea ; Ferretti, Alessandro ; Festanti, Andrea ; Feuillard, Victor Jose Gaston ; Figiel, Jan ; Filchagin, Sergey ; Finogeev, Dmitry ; Fionda, Fiorella Maria Celeste ; Fiorenza, Gabriele ; Flor, Fernando Antonio ; Floris, Michele ; Foertsch, Siegfried Valentin ; Foka, Panagiota ; Fokin, Sergey ; Fragiacomo, Enrico ; Francisco, Audrey ; Frankenfeld, Ulrich ; Fronzé, Gabriele Gaetano ; Fuchs, Ulrich ; Furget, Christophe ; Furs, Artur ; Fusco Girard, Mario ; Gaardhøje, Jens Jørgen ; Gagliardi, Martino ; Gago Medina, Alberto Martín ; Gajdosova, Katarina ; Duarte Galvan, Carlos ; Ganoti, Paraskevi ; Garabatos, Chilo ; Garcia-Solis, Edmundo Javier ; Garg, Kunal ; Gargiulo, Corrado ; Garner, Katharina ; 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Harlenderova, Alena ; Harris, John W. ; Harton, Austin Vincent ; Hassan, Hadi ; Hatzifotiadou, Despina ; Hauer, Philip ; Hayashi, Shinichi ; Heckel, Stefan Thomas ; Hellbär, Ernst ; Helstrup, Håvard ; Herghelegiu, Andrei Ionut ; Gonzalez Hernandez, Emma ; Herrera Corral, Gerardo Antonio ; Herrmann, Florian ; Hetland, Kristin Fanebust ; Hilden, Timo Eero ; Hillemanns, Hartmut ; Hills, Christopher ; Hippolyte, Boris ; Hohlweger, Bernhard ; Horak, David ; Hornung, Sebastian ; Hosokawa, Ritsuya ; Hota, Jyotishree ; Hristov, Peter ; Huang, Chun-Lu ; Hughes, Charles ; Huhn, Patrick ; Humanic, Thomas J. ; Hushnud, Hushnud ; Husova, Lucia Anna ; Hussain, Nur ; Hussain, Tahir ; Hutter, Dirk ; Hwang, Dae Sung ; Iddon, James Philip ; Ilkaev, Radiy ; Inaba, Motoi ; Ippolitov, Mikhail ; Islam, Md Samsul ; Ivanov, Marian ; Ivanov, Vladimir ; Izucheev, Vladimir ; Jacak, Barbara ; Jacazio, Nicolò ; Jacobs, Peter Martin ; Jadhav, Manoj Bhanudas ; Jadlovska, Slavka ; Jadlovsky, Jan ; Jaelani, Syaefudin ; Jahnke, Cristiane ; Jakubowska, Monika Joanna ; Janik, Malgorzata Anna ; Jercic, Marko ; Jevons, Oliver ; Jiménez Bustamante, Raúl Tonatiuh ; Jin, Muqing ; Jones, Peter Graham ; Jusko, Anton ; Kalinak, Peter ; Kalweit, Alexander Philipp ; Kang, Ju Hwan ; Kaplin, Vladimir ; Kar, Somnath ; Karasu Uysal, Ayben ; Karavichev, Oleg V. ; Karavicheva, Tatiana L. ; Karczmarczyk, Przemyslaw ; Karpechev, Evgeny ; Kebschull, Udo ; Keidel, Ralf ; Keijdener, Darius Laurens D. ; Keil, Markus ; Ketzer, Bernhard ; Khabanova, Zhanna ; Khan, Ahsan Mehmood ; Khan, Shaista ; Khan, Shuaib Ahmad ; Khanzadeev, Alexei ; Kharlov, Yury ; Khatun, Anisa ; Khuntia, Arvind ; Kielbowicz, Mirosław Marek ; Kileng, Bjarte ; Kim, B. ; Kim, B. ; Kim, Daehyeok ; Kim, Dong Jo ; Kim, Eun Joo ; Kim, Hyeonjoong ; Kim, Jin Sook ; Kim, J. ; Kim, J. ; Kim, M. ; Kim, Se Yong ; Kim, T. ; Kim, T. ; Kindra, Karan ; Kirsch, Stefan ; Kisel, Ivan ; Kiselev, Sergej N. ; Kisiel, Adam Ryszard ; Klay, Jennifer Lynn ; Klein, Carsten ; Klein, Jochen ; Klein-Bösing, Christian ; Klewin, Sebastian ; Kluge, Alexander ; Knichel, Michael Linus ; Knospe, Anders Garritt ; Kobdaj, Chinorat ; Kofarago, Monika ; Köhler, Markus Konrad ; Kollegger, Thorsten ; Kondratyeva, Natalia V. ; Kondratyuk, Evgeny ; Konevskikh, Artem ; Konopka, Piotr Jan ; Konyushikhin, Maxim A. ; Koska, Lukáš ; Kovalenko, Oleksandr ; Kovalenko, Vladimir ; Kowalski, Marek ; Králik, Ivan ; Kravčáková, Adela ; Kreis, Lukas ; Krivda, Marian ; Krizek, Filip ; Krüger, Mario ; Kryshen, Evgeny ; Krzewicki, Mikolaj ; Kubera, Andrew Michael ; Kučera, Vít ; Kuhn, Christian Claude ; Kuijer, Paulus Gerardus ; Kumar, Jitendra ; Kumar, Lokesh ; Kumar, Shyam ; Kundu, Sourav ; Kurashvili, Podist ; Kurepin, Alexander ; Kurepin, Alexey B. ; Kushpil, Svetlana ; Kvapil, Jakub ; Kweon, Min Jung ; Kwon, Youngil ; La Pointe, Sarah Louise ; La Rocca, Paola ; Lai, Yue Shi ; Lakomov, Igor ; Langoy, Rune ; Lapidus, Kirill ; Lardeux, Antoine Xavier ; Larionov, Pavel ; Laudi, Elisa ; Lavicka, Roman ; Lazareva, Tatiana V. ; Lea, Ramona ; Leardini, Lucia ; Lee, Seongjoo ; Lehas, Fatiha ; Lehner, Sebastian ; Lehrbach, Johannes ; Lemmon, Roy Crawford ; León Monzón, Ildefonso ; Lévai, Péter ; Li, Xiaomei ; Li, Xing Long ; Lien, Jørgen André ; Lietava, Roman ; Lim, Bong-Hwi ; Lindal, Svein ; Lindenstruth, Volker ; Lindsay, Scott William ; Lippmann, Christian ; Lisa, Michael A. ; Litichevskyi, Vladyslav ; Liu, Alwina Ruixin ; Ljunggren, Hans Martin ; Llope, William Joseph ; Lodato, Davide Francesco ; Loginov, Vitaly ; Loizides, Constantinos ; Lončar, Petra ; Lopez, Xavier Bernard ; López Torres, Ernesto ; Lüttig, Philipp ; Luhder, Jens Robert ; Lunardon, Marcello ; Luparello, Grazia ; Lupi, Matteo ; Maevskaya, Alla ; Mager, Magnus ; Mahmood, Sohail Musa ; Maire, Antonin ; Majka, Richard Daniel ; Malaev, Mikhail ; Malik, Qasim Waheed ; Malinina, Liudmila ; Mal'Kevich, Dmitry ; Malzacher, Peter ; Mamonov, Alexander ; Manko, Vladislav ; Manso, Franck ; Manzari, Vito ; Mao, Yaxian ; Marchisone, Massimiliano ; Mareš, Jiří ; Margagliotti, Giacomo Vito ; Margotti, Anselmo ; Margutti, Jacopo ; Marín, Ana ; Markert, Christina ; Marquard, Marco ; Martin, Nicole Alice ; Martinengo, Paolo ; Martinez, Jacobb Lee ; Martínez Hernández, Mario Iván ; Martínez Garcia, Ginés ; Martinez Pedreira, Miguel ; Masciocchi, Silvia ; Masera, Massimo ; Masoni, Alberto ; Massacrier, Laure Marie ; Masson, Erwann ; Mastroserio, Annalisa ; Mathis, Andreas Michael ; Matuoka, Paula Fernanda Toledo ; Matyja, Adam Tomasz ; Mayer, Christoph ; Mazzilli, Marianna ; Mazzoni, Alessandra Maria ; Meddi, Franco ; Melikyan, Yury ; Menchaca-Rocha, Arturo Alejandro ; Meninno, Elisa ; Meres, Michal ; Mhlanga, Sibaliso ; Miake, Yasuo ; Micheletti, Luca ; Mieskolainen, Matti Mikael ; Mihaylov, Dimitar ; Mikhaylov, Konstantin ; Mischke, André ; Mishra, Aditya Nath ; Miśkowiec, Dariusz Czesław ; Mitra, Jubin ; Mitu, Ciprian Mihai ; Mohammadi, Naghmeh ; Mohanty, Auro Prasad ; Mohanty, Bedangadas ; Mohisin Khan, Mohammed ; Mondal, Mriganka Mouli ; Mordasini, Cindy ; Godoy, Denise Aparecida Moreira de ; Perez Moreno, Luis Alberto ; Moretto, Sandra ; Morreale, Astrid ; Morsch, Andreas ; Mrnjavac, Teo ; Muccifora, Valeria ; Mudnic, Eugen ; Mühlheim, Daniel ; Muhuri, Sanjib ; Mulligan, James Declan ; Munhoz, Marcelo Gameiro ; Münning, Konstantin ; Munzer, Robert Helmut ; Murakami, Hikari ; Murray, Sean ; Musa, Luciano ; Musinsky, Jan ; Myers, Corey James ; Myrcha, Julian Wojciech ; Naik, Bharati ; Nair, Rahul Ramachandran ; Nandi, Basanta Kumar ; Nania, Rosario ; Nappi, Eugenio ; Naru, Muhammad Umair ; Nassirpour, Adrian Fereydon ; Luz, Pedro Hugo Ferreira Natal da ; Nattrass, Christine ; Rosado Navarro, Sebastian ; Nayak, Kishora ; Nayak, Ranjit ; Nayak, Tapan Kumar ; Nazarenko, Sergey ; Oliveira, Renato Aparecido Negrao de ; Nellen, Lukas ; Nesbo, Simon Voigt ; Nešković, Gvozden ; Ng, Fabian ; Niedziela, Jeremi ; Nielsen, Borge Svane ; Nikolaev, Sergey ; Nikulin, Sergey ; Nikulin, Vladimir ; Noferini, Francesco ; Nomokonov, Petr V. ; Nooren, Gerardus ; Cabanillas Noris, Juan Carlos ; Norman, Jaime ; Nyanin, Alexander ; Nystrand, Joakim Ingemar ; Ogino, Masanori ; Ohlson, Alice ; Oleniacz, Janusz ; Silva, Antonio Carlos Oliveira da ; Oliver, Michael Henry ; Onderwaater, Jacobus ; Oppedisano, Chiara ; Orava, Risto ; Oravec, Matej ; Ortiz Velasquez, Antonio ; Oskarsson, Anders Nils Erik ; Otwinowski, Jacek Tomasz ; Oyama, Ken ; Pachmayer, Yvonne C. ; Pacik, Vojtěch ; Pagano, Davide ; Paić, Guy ; Palni, Prabhakar ; Pan, Jinjin ; Pandey, Ashutosh Kumar ; Panebianco, Stefano Matthias ; Papikyan, Vardanush ; Pareek, Pooja ; Park, Jonghan ; Parkkila, Jasper Elias ; Parmar, Sonia ; Passfeld, Annika ; Pathak, Surya Prakash ; Patra, Rajendra Nath ; Paul, Biswarup ; Pei, Hua ; Peitzmann, Thomas ; Peng, Xinye ; Pereira, Luis Gustavo ; Pereira da Costa, Hugo Denis Antonio ; Peresunko, Dmitry Yurevich ; Pérez Lezama, Edgar ; Peskov, Vladimir ; Pestov, Yury N. ; Petráček, Vojtech ; Petrovici, Mihai A. ; Pezzi, Rafael Peretti ; Piano, Stefano ; 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Samsonov, Vladimir ; Sandoval, Andres ; Sarkar, Amal ; Sarkar, Debojit ; Sarkar, Nachiketa ; Sarma, Pranjal ; Mantovani Sarti, Valentina ; Sas, Mike Henry Petrus ; Scapparone, Eugenio ; Schaefer, Brennan ; Schambach, Joachim ; Scheid, Horst Sebastian ; Schiaua, Claudiu Cornel ; Schicker, Rainer ; Schmidt, Christian Joachim ; Schmidt, Hans Rudolf ; Schmidt, Marten Ole ; Schmidt, Martin ; Schmidt, Nicolas ; Schukraft, Jürgen ; Schutz, Yves Roland ; Schwarz, Kilian ; Schweda, Kai ; Scioli, Gilda ; Scomparin, Enrico ; Šefčík, Michal ; Seger, Janet Elizabeth ; Sekiguchi, Yuko ; Sekihata, Daiki ; Selyuzhenkov, Ilya ; Senyukov, Serhiy ; Serradilla, Eulogio ; Sett, Priyanka ; Sevcenco, Adrian ; Shabanov, Arseniy ; Shabetai, Alexandre ; Shahoyan, Ruben ; Shaikh, Wadut ; Shangaraev, Artem ; Sharma, A. ; Sharma, A. ; Sharma, M. ; Sharma, Natasha ; Sheikh, Ashik Ikbal ; Shigaki, Kenta ; Shimomura, Maya ; Shirinkin, Sergey ; Shou, Qiye ; Sibiriak, Yury ; Siddhanta, Sabyasachi ; Siemiarczuk, Teodor ; 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A measurement of the production of prompt +c baryons in Pb–Pb collisions at √sNN = 5.02 TeV with the ALICE detector at the LHC is reported. The +c and − c were reconstructed at midrapidity (|y| < 0.5) via the hadronic decay channel +c → pK0 S (and charge conjugate) in the transverse momentum and centrality intervals 6 < pT < 12 GeV/c and 0–80%. The +c /D0 ratio, which is sensitive to the charm quark hadronisation mechanisms in the medium, is measured and found to be larger than the ratio measured in minimum-bias pp collisions at √s = 7 TeV and in p–Pb collisions at √sNN = 5.02 TeV. In particular, the values in p–Pb and Pb–Pb collisions differ by about two standard deviations of the combined statistical and systematic uncertainties in the common pT interval covered by the measurements in the two collision systems. The + c /D0 ratio is also compared with model calculations including different implementations of charm quark hadronisation. The measured ratio is reproduced by models implementing a pure coalescence scenario, while adding a fragmentation contribution leads to an underestimation. The + c nuclear modification factor, RAA, is also presented. The measured values of the RAA of + c , D+ s and non-strange D mesons are compatible within the combined statistical and systematic uncertainties. They show, however, a hint of a hierarchy (RD0 AA < RD+ s AA < R+ c AA ), conceivable with a contribution from coalescence mechanisms to charm hadron formation in the medium.
Acharya, Shreyasi ; Torales Acosta, Fernando ; Adamová, Dagmar ; Adhya, Souvik Priyam ; Adler, Alexander ; Adolfsson, Jonatan ; Aggarwal, Madan Mohan ; Aglieri Rinella, Gianluca ; Agnello, Michelangelo ; Ahammed, Zubayer ; Ahmad, Shakeel ; Ahn, Sang Un ; Aiola, Salvatore ; Akindinov, Alexander ; Al-Turany, Mohammad ; Alam, Sk Noor ; Albuquerque, Danilo Silva de ; Aleksandrov, Dmitry ; Alessandro, Bruno ; Alfanda, Haidar Mas’ud ; Alfaro Molina, Jose Ruben ; Ali, Bushra ; Ali, Yasir ; Alici, Andrea ; Alkin, Anton ; Alme, Johan ; Alt, Torsten ; Altenkämper, Lucas ; Altsybeev, Igor ; Anaam, Mustafa Naji ; Andrei, Cristian ; Andreou, Dimitra ; Andrews, Harry Arthur ; Andronic, Anton ; Angeletti, Massimo ; Anguelov, Venelin ; Anson, Christopher Daniel ; Antičić, Tome ; Antinori, Federico ; Antonioli, Pietro ; Anwar, Rafay ; Apadula, Nicole ; Aphecetche, Laurent Bernard ; Appelshäuser, Harald ; Arcelli, Silvia ; Arnaldi, Roberta ; Arratia, Miguel ; Arsene, Ionut Cristian ; Arslandok, Mesut ; 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Bielčík, Jaroslav ; Bielčíková, Jana ; Bilandzic, Ante ; Biro, Gabor ; Biswas, Rathijit ; Biswas, Saikat ; Blair, Justin Thomas ; Blau, Dmitry S. ; Blume, Christoph ; Boca, Gianluigi ; Bock, Friederike ; Bogdanov, Alexey A. ; Boldizsár, László ; Bolozdynya, Alexander I. ; Bombara, Marek ; Bonomi, Germano ; Bonora, Matthias ; Borel, Hervé ; Borissov, Alexander ; Borri, Marcello ; Botta, Elena ; Bourjau, Christian ; Bratrud, Lars ; Braun-Munzinger, Peter ; Bregant, Marco ; Broker, Theo Alexander ; Broz, Michal ; Brücken, Erik Jens ; Bruna, Elena ; Bruno, Giuseppe Eugenio ; Buckland, Matthew Daniel ; Budnikov, Dmitry ; Büsching, Henner ; Bufalino, Stefania ; Bühler, Paul ; Bunčić, Predrag ; Busch, Oliver ; Buthelezi, Edith Zinhle ; Butt, Jamila Bashir ; Buxton, Jesse Thomas ; Caffarri, Davide ; Caines, Helen Louise ; Caliva, Alberto ; Calvo Villar, Ernesto ; Soto Camacho, Rabi ; Camerini, Paolo ; Capon, Aaron Allan ; Carnesecchi, Francesca ; Castillo Castellanos, Javier Ernesto ; Castro, Andrew John ; 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Erhardt, Filip ; Erokhin, Andrey ; Ersdal, Magnus Rentsch ; Espagnon, Bruno ; Eulisse, Giulio ; Eum, Jongsik ; Evans, David ; Evdokimov, Sergey ; Fabbietti, Laura ; Faggin, Mattia ; Faivre, Julien ; Fantoni, Alessandra ; Fasel, Markus ; Feldkamp, Linus ; Feliciello, Alessandro ; Feofilov, Grigori A. ; Fernández Téllez, Arturo ; Ferrero, Andrea ; Ferretti, Alessandro ; Festanti, Andrea ; Feuillard, Victor Jose Gaston ; Figiel, Jan ; Filchagin, Sergey ; Finogeev, Dmitry ; Fionda, Fiorella Maria Celeste ; Fiorenza, Gabriele ; Flor, Fernando Antonio ; Floris, Michele ; Foertsch, Siegfried Valentin ; Foka, Panagiota ; Fokin, Sergey ; Fragiacomo, Enrico ; Francisco, Audrey ; Frankenfeld, Ulrich ; Fronzé, Gabriele Gaetano ; Fuchs, Ulrich ; Furget, Christophe ; Furs, Artur ; Fusco Girard, Mario ; Gaardhøje, Jens Jørgen ; Gagliardi, Martino ; Gago Medina, Alberto Martín ; Gajdosova, Katarina ; Duarte Galvan, Carlos ; Ganoti, Paraskevi ; Garabatos, Chilo ; Garcia-Solis, Edmundo Javier ; Garg, Kunal ; Gargiulo, Corrado ; Garner, Katharina ; Gasik, Piotr ; Gauger, Erin Frances ; Ducati, Maria Beatriz de Leone Gay ; Germain, Marie ; Ghosh, Jhuma ; Ghosh, Premomoy ; Ghosh, Sanjay Kumar ; Gianotti, Paola ; Giubellino, Paolo ; Giubilato, Piero ; Glässel, Peter ; Gómez Coral, Diego Mauricio ; Gómez Ramírez, Andrés ; Gonzalez, Victor ; González Zamora, Pedro ; Gorbunov, Sergey ; Görlich, Lidia Maria ; Gotovac, Sven ; Grabski, Varlen ; Graczykowski, Łukasz Kamil ; Graham, Katie Leanne ; Greiner, Leo Clifford ; Grelli, Alessandro ; Grigoraș, Costin ; Grigoriev, Vladislav A. ; Grigoryan, Ara ; Grigoryan, Smbat ; Gronefeld, Julius Maximilian ; Grosa, Fabrizio ; Große-Oetringhaus, Jan Fiete ; Grosso, Raffaele ; Guernane, Rachid ; Guerzoni, Barbara ; Guittiere, Manuel ; Gulbrandsen, Kristjan Herlache ; Gunji, Taku ; Gupta, Anik ; Gupta, Ramni ; Bautista Guzman, Irais ; Haake, Rüdiger ; Habib, Michael Karim ; Hadjidakis, Cynthia Marie ; Hamagaki, Hideki ; Hamar, Gergö ; Hamid, Mohammed ; Hamon, Julien Charles ; Hannigan, Ryan ; Haque, Md Rihan ; Harlenderova, Alena ; Harris, John W. ; Harton, Austin Vincent ; Hassan, Hadi ; Hatzifotiadou, Despina ; Hauer, Philip ; Hayashi, Shinichi ; Heckel, Stefan Thomas ; Hellbär, Ernst ; Helstrup, Håvard ; Herghelegiu, Andrei Ionut ; Gonzalez Hernandez, Emma ; Herrera Corral, Gerardo Antonio ; Herrmann, Florian ; Hetland, Kristin Fanebust ; Hilden, Timo Eero ; Hillemanns, Hartmut ; Hills, Christopher ; Hippolyte, Boris ; Hohlweger, Bernhard ; Horak, David ; Hornung, Sebastian ; Hosokawa, Ritsuya ; Hota, Jyotishree ; Hristov, Peter ; Huang, Chun-Lu ; Hughes, Charles ; Huhn, Patrick ; Humanic, Thomas J. ; Hushnud, Hushnud ; Husova, Lucia Anna ; Hussain, Nur ; Hussain, Tahir ; Hutter, Dirk ; Hwang, Dae Sung ; Iddon, James Philip ; Ilkaev, Radiy ; Inaba, Motoi ; Ippolitov, Mikhail ; Islam, Md Samsul ; Ivanov, Marian ; Ivanov, Vladimir ; Izucheev, Vladimir ; Jacak, Barbara ; Jacazio, Nicolò ; Jacobs, Peter Martin ; Jadhav, Manoj Bhanudas ; Jadlovska, Slavka ; Jadlovsky, Jan ; Jaelani, Syaefudin ; Jahnke, Cristiane ; Jakubowska, Monika Joanna ; Janik, Malgorzata Anna ; Jercic, Marko ; Jevons, Oliver ; Jiménez Bustamante, Raúl Tonatiuh ; Jin, Muqing ; Jones, Peter Graham ; Jusko, Anton ; Kalinak, Peter ; Kalweit, Alexander Philipp ; Kang, Ju Hwan ; Kaplin, Vladimir ; Kar, Somnath ; Karasu Uysal, Ayben ; Karavichev, Oleg V. ; Karavicheva, Tatiana L. ; Karczmarczyk, Przemyslaw ; Karpechev, Evgeny ; Kebschull, Udo ; Keidel, Ralf ; Keil, Markus ; Ketzer, Bernhard ; Khabanova, Zhanna ; Khan, Ahsan Mehmood ; Khan, Shaista ; Khan, Shuaib Ahmad ; Khanzadeev, Alexei ; Kharlov, Yury ; Khatun, Anisa ; Khuntia, Arvind ; Kielbowicz, Mirosław Marek ; Kileng, Bjarte ; Kim, B. ; Kim, B. ; Kim, Daehyeok ; Kim, Dong Jo ; Kim, Eun Joo ; Kim, Hyeonjoong ; Kim, Jin Sook ; Kim, J. ; Kim, J. ; Kim, J. ; Kim, M. ; Kim, Se Yong ; Kim, T. ; Kim, T. ; Kindra, Karan ; Kirsch, Stefan ; Kisel, Ivan ; Kiselev, Sergej N. ; Kisiel, Adam Ryszard ; Klay, Jennifer Lynn ; Klein, Carsten ; Klein, Jochen ; Klein, Spencer Robert ; Klein-Bösing, Christian ; Klewin, Sebastian ; Kluge, Alexander ; Knichel, Michael Linus ; Knospe, Anders Garritt ; Kobdaj, Chinorat ; Kofarago, Monika ; Köhler, Markus Konrad ; Kollegger, Thorsten ; Kondratyeva, Natalia V. ; Kondratyuk, Evgeny ; Konopka, Piotr Jan ; Konyushikhin, Maxim A. ; Koska, Lukáš ; Kovalenko, Oleksandr ; Kovalenko, Vladimir ; Kowalski, Marek ; Králik, Ivan ; Kravčáková, Adela ; Kreis, Lukas ; Krivda, Marian ; Krizek, Filip ; Krüger, Mario ; Kryshen, Evgeny ; Krzewicki, Mikolaj ; Kubera, Andrew Michael ; Kučera, Vít ; Kuhn, Christian Claude ; Kuijer, Paulus Gerardus ; Kumar, Lokesh ; Kumar, Shyam ; Kundu, Sourav ; Kurashvili, Podist ; Kurepin, Alexander ; Kurepin, Alexey B. ; Kushpil, Svetlana ; Kvapil, Jakub ; Kweon, Min Jung ; Kwon, Youngil ; La Pointe, Sarah Louise ; La Rocca, Paola ; Lai, Yue Shi ; Langoy, Rune ; Lapidus, Kirill ; Lardeux, Antoine Xavier ; Larionov, Pavel ; Laudi, Elisa ; Lavicka, Roman ; Lazareva, Tatiana V. ; Lea, Ramona ; Leardini, Lucia ; Lee, Seongjoo ; Lehas, Fatiha ; Lehner, Sebastian ; Lehrbach, Johannes ; Lemmon, Roy Crawford ; León Monzón, Ildefonso ; Lévai, Péter ; Li, Xiaomei ; Li, Xing Long ; Lien, Jørgen André ; Lietava, Roman ; Lim, Bong-Hwi ; Lindal, Svein ; Lindenstruth, Volker ; Lindsay, Scott William ; Lippmann, Christian ; Lisa, Michael A. ; Litichevskyi, Vladyslav ; Liu, Alwina Ruixin ; Ljunggren, Hans Martin ; Llope, William Joseph ; Lodato, Davide Francesco ; Loginov, Vitaly ; Loizides, Constantinos ; Lončar, Petra ; Lopez, Xavier Bernard ; López Torres, Ernesto ; Lüttig, Philipp ; Luhder, Jens Robert ; Lunardon, Marcello ; Luparello, Grazia ; Lupi, Matteo ; Maevskaya, Alla ; Mager, Magnus ; Mahmood, Sohail Musa ; Mahmoud, Tariq ; Maire, Antonin ; Majka, Richard Daniel ; Malaev, Mikhail ; Malik, Qasim Waheed ; Malinina, Liudmila ; Mal'Kevich, Dmitry ; Malzacher, Peter ; Mamonov, Alexander ; Manko, Vladislav ; Manso, Franck ; Manzari, Vito ; Mao, Yaxian ; Marchisone, Massimiliano ; Mareš, Jiří ; Margagliotti, Giacomo Vito ; Margotti, Anselmo ; Margutti, Jacopo ; Marín, Ana ; Markert, Christina ; Marquard, Marco ; Martin, Nicole Alice ; Martinengo, Paolo ; Martinez, Jacobb Lee ; Martínez Hernández, Mario Iván ; Martínez Garcia, Ginés ; Martinez Pedreira, Miguel ; Masciocchi, Silvia ; Masera, Massimo ; Masoni, Alberto ; Massacrier, Laure Marie ; Masson, Erwann ; Mastroserio, Annalisa ; Mathis, Andreas Michael ; Matuoka, Paula Fernanda Toledo ; Matyja, Adam Tomasz ; Mayer, Christoph ; Mazzilli, Marianna ; Mazzoni, Alessandra Maria ; Meddi, Franco ; Melikyan, Yury ; Menchaca-Rocha, Arturo Alejandro ; Meninno, Elisa ; Meres, Michal ; Mhlanga, Sibaliso ; Miake, Yasuo ; Micheletti, Luca ; Mieskolainen, Matti Mikael ; Mihaylov, Dimitar ; Mikhaylov, Konstantin ; Mischke, André ; Mishra, Aditya Nath ; Miśkowiec, Dariusz Czesław ; Mitra, Jubin ; Mitu, Ciprian Mihai ; Mohammadi, Naghmeh ; Mohanty, Auro Prasad ; Mohanty, Bedangadas ; Mohisin Khan, Mohammed ; Mondal, Mriganka Mouli ; Mordasini, Cindy ; Godoy, Denise Aparecida Moreira de ; Perez Moreno, Luis Alberto ; Moretto, Sandra ; Morreale, Astrid ; Morsch, Andreas ; Mrnjavac, Teo ; Muccifora, Valeria ; Mudnic, Eugen ; Mühlheim, Daniel ; Muhuri, Sanjib ; Mukherjee, Maitreyee ; Mulligan, James Declan ; Munhoz, Marcelo Gameiro ; Münning, Konstantin ; Munzer, Robert Helmut ; Murakami, Hikari ; Murray, Sean ; Musa, Luciano ; Musinsky, Jan ; Myers, Corey James ; Myrcha, Julian Wojciech ; Naik, Bharati ; Nair, Rahul Ramachandran ; Nandi, Basanta Kumar ; Nania, Rosario ; Nappi, Eugenio ; Naru, Muhammad Umair ; Nassirpour, Adrian Fereydon ; Luz, Pedro Hugo Ferreira Natal da ; Nattrass, Christine ; Rosado Navarro, Sebastian ; Nayak, Kishora ; Nayak, Ranjit ; Nayak, Tapan Kumar ; Nazarenko, Sergey ; Oliveira, Renato Aparecido Negrao de ; Nellen, Lukas ; Nesbo, Simon Voigt ; Nešković, Gvozden ; Ng, Fabian ; Nielsen, Borge Svane ; Nikolaev, Sergey ; Nikulin, Sergey ; Nikulin, Vladimir ; Noferini, Francesco ; Nomokonov, Petr V. ; Nooren, Gerardus ; Cabanillas Noris, Juan Carlos ; Norman, Jaime ; Nyanin, Alexander ; Nystrand, Joakim Ingemar ; Ogino, Masanori ; Ohlson, Alice ; Oleniacz, Janusz ; Silva, Antonio Carlos Oliveira da ; Oliver, Michael Henry ; Onderwaater, Jacobus ; Oppedisano, Chiara ; Orava, Risto ; Ortiz Velasquez, Antonio ; Oskarsson, Anders Nils Erik ; Otwinowski, Jacek Tomasz ; Oyama, Ken ; Pachmayer, Yvonne C. ; Pacik, Vojtěch ; Pagano, Davide ; Paić, Guy ; Palni, Prabhakar ; Pan, Jinjin ; Pandey, Ashutosh Kumar ; Panebianco, Stefano Matthias ; Papikyan, Vardanush ; Pareek, Pooja ; Park, Jonghan ; Parkkila, Jasper Elias ; Parmar, Sonia ; Passfeld, Annika ; Pathak, Surya Prakash ; Patra, Rajendra Nath ; Paul, Biswarup ; Pei, Hua ; Peitzmann, Thomas ; Peng, Xinye ; Pereira, Luis Gustavo ; Pereira da Costa, Hugo Denis Antonio ; Peresunko, Dmitry Yurevich ; Mesa Perez, Guillermo ; Pérez Lezama, Edgar ; Peskov, Vladimir ; Pestov, Yury N. ; Petráček, Vojtech ; Petrovici, Mihai A. ; Pezzi, Rafael Peretti ; Piano, Stefano ; Pikna, Miroslav ; Pillot, Philippe ; Ozelin de Lima Pimentel, Laís ; Pinazza, Ombretta ; Pinsky, Lawrence ; Pisano, Silvia ; Piyarathna, Danthasinghe B. ; Płoskoń, Mateusz ; Planinic, Mirko ; Pliquett, Fabian ; Pluta, Jan Marian ; Pochybova, Sona ; Podesta Lerma, Pedro Luis Manuel ; Poghosyan, Martin G. ; Polichtchouk, Boris ; Poljak, Nikola ; Poonsawat, Wanchaloem ; Pop, Amalia ; Poppenborg, Hendrik ; Porteboeuf-Houssais, Sarah Julie ; Pozdniakov, Valeriy ; Prasad, Sidharth Kumar ; Preghenella, Roberto ; Prino, Francesco ; Pruneau, Claude A. ; Pshenichnov, Igor A. ; Puccio, Maximiliano ; Punin, Valery ; Puranapanda, Kalyana ; Putschke, Jörn H. ; Quishpe, Raquel Estefania ; Ragoni, Simone ; Raha, Sibaji ; Rajput, Sonia ; Rak, Jan ; Rakotozafindrabe, Andry Malala ; Ramello, Luciano ; Rami, Fouad ; Raniwala, Rashmi ; Raniwala, Sudhir ; Räsänen, Sami Sakari ; Rascanu, Bogdan Theodor ; Rath, Rutuparna ; Ratza, Viktor ; Ravasenga, Ivan ; Read, Kenneth Francis ; Redlich, Krzysztof ; Rehman, Attiq ur ; Reichelt, Patrick ; Reidt, Felix ; Ren, Xiaowen ; Renfordt, Rainer Arno Ernst ; Reshetin, Andrey ; Revol, Jean-Pierre ; Reygers, Klaus ; Riabov, Viktor G. ; Richert, Tuva Ora Herenui ; Richter, Matthias Rudolph ; Riedler, Petra ; Riegler, Werner ; Riggi, Francesco ; Ristea, Cătălin-Lucian ; Rode, Sudhir Pandurang ; Rodrı́guez Cahuantzi, Mario ; Røed, Ketil ; Rogalev, Roman ; Rogochaya, Elena ; Rohr, David ; Röhrich, Dieter ; Rokita, Przemyslaw Stefan ; Ronchetti, Federico ; Dominguez Rosas, Edgar ; Rosłon, Krystian ; Rosnet, Philippe ; Rossi, Andrea ; Rotondi, Alberto ; Roukoutakis, Filimon ; Roy, Ankhi ; Roy, Pradip Kumar ; Vazquez Rueda, Omar ; Rui, Rinaldo ; Rumyantsev, Boris ; Rustamov, Anar ; Ryabinkin, Evgeny ; Ryabov, Yury ; Rybicki, Andrzej ; Saarinen, Sampo ; Sadhu, Samrangy ; Sadovskiy, Sergey ; Šafařík, Karel ; Saha, Sumit Kumar ; Sahoo, Baidyanath ; Sahoo, Pragati ; Sahoo, Raghunath ; Sahoo, Sarita ; Sahu, Pradip Kumar ; Saini, Jogender ; Sakai, Shingo ; Sambyal, Sanjeev Singh ; Samsonov, Vladimir ; Sandoval, Andres ; Sarkar, Amal ; Sarkar, Debojit ; Sarkar, Nachiketa ; Sarma, Pranjal ; Mantovani Sarti, Valentina ; Sas, Mike Henry Petrus ; Scapparone, Eugenio ; Schaefer, Brennan ; Schambach, Joachim ; Scheid, Horst Sebastian ; Schiaua, Claudiu Cornel ; Schicker, Rainer ; Schmah, Alexander ; Schmidt, Christian Joachim ; Schmidt, Hans Rudolf ; Schmidt, Marten Ole ; Schmidt, Martin ; Schmidt, Nicolas ; Schmier, Austin Robert ; Schukraft, Jürgen ; Schutz, Yves Roland ; Schwarz, Kilian ; Schweda, Kai ; Scioli, Gilda ; Scomparin, Enrico ; Šefčík, Michal ; Seger, Janet Elizabeth ; Sekiguchi, Yuko ; Sekihata, Daiki ; Selyuzhenkov, Ilya ; Senyukov, Serhiy ; Serradilla, Eulogio ; Sett, Priyanka ; Sevcenco, Adrian ; Shabanov, Arseniy ; Shabetai, Alexandre ; Shahoyan, Ruben ; Shaikh, Wadut ; Shangaraev, Artem ; Sharma, A. ; Sharma, A. ; Sharma, M. ; Sharma, Natasha ; Sheikh, Ashik Ikbal ; Shigaki, Kenta ; Shimomura, Maya ; Shirinkin, Sergey ; Shou, Qiye ; Sibiriak, Yury ; Siddhanta, Sabyasachi ; Siemiarczuk, Teodor ; Silvermyr, David Olle Rickard ; Simatovic, Goran ; Simonetti, Giuseppe ; Singh, R. ; Singh, R. ; Singhal, Vikas ; Sinha, Tinku ; Sitar, Branislav ; Sitta, Mario ; Skaali, Toralf Bernhard ; Slupecki, Maciej ; Smirnov, Nikolai ; Snellings, Raimond ; Snellman, Tomas Wilhelm ; Sochan, Jaroslav ; Soncco Meza, Carlos ; Song, Jihye ; Songmoolnak, Arnon ; Soramel, Francesca ; Sorensen, Soren Pontoppidan ; Sozzi, Federica ; Sputowska, Iwona Anna ; Stachel, Johanna ; Stan, Ionel ; Stankus, Paul William ; Stenlund, Evert Anders ; Stocco, Diego ; Storetvedt, Maksim Melnik ; Strmen, Peter ; Suaide, Alexandre Alarcon do Passo ; Sugitate, Toru ; Suire, Christophe Pierre ; Suleymanov, Mais Kazim Oglu ; Šuljić, Miljenko ; Sultanov, Rishat ; Šumbera, Michal ; Sumowidagdo, Suharyo ; Suzuki, Ken ; Swain, Sagarika ; Szabo, Alexander ; Szarka, Imrich ; Tabassam, Uzma ; Takahashi, Jun ; Tambave, Ganesh Jagannath ; Tanaka, Naoto ; Tarhini, Mohamad ; Tarzila, Madalina-Gabriela ; 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Xu, Ran ; Yalcin, Serpil ; Yamakawa, Kosei ; Yano, Satoshi ; Yin, Zhongbao ; Yokoyama, Hiroki ; Yoo, In-Kwon ; Yoon, Jin-Hee ; Yuan, S. ; Yurchenko, Volodymyr ; Zaccolo, Valentina ; Zaman, Ali ; Zampolli, Chiara ; Correia Zanoli, Henrique Jose ; Zardoshti, Nima ; Zarochentsev, Andrey ; Závada, Petr ; Zaviyalov, Nikolaj ; Zbroszczyk, Hanna Paulina ; Zhalov, Mikhail ; Zhang, Xiaoming ; Zhang, Y. ; Zhang, Zuman ; Zhao, Chengxin ; Zherebchevskii, Vladimir ; Zhigareva, Natalia ; Zhou, Daicui ; Zhou, You ; Zhou, Zhuo ; Zhu, Hongsheng ; Zhu, Jianhui ; Zhu, Y. ; Zichichi, Antonino ; Zimmermann, Markus ; Zinovjev, Gennady M. ; Zurlo, Nicola
In this letter, the production of deuterons and anti-deuterons in pp collisions at √s = 7 TeV is studied as a function of the charged-particle multiplicity density at mid-rapidity with the ALICE detector at the LHC. Production yields are measured at mid-rapidity in five multiplicity classes and as a function of the deuteron transverse momentum (pT). The measurements are discussed in the context of hadron–coalescence models. The coalescence parameter B2, extracted from the measured spectra of (anti-)deuterons and primary (anti-)protons, exhibits no significant pT-dependence for pT < 3 GeV/c, in agreement with the expectations of a simple coalescence picture. At fixed transverse momentum per nucleon, the B2 parameter is found to decrease smoothly from low multiplicity pp to Pb–Pb collisions, in qualitative agreement with more elaborate coalescence models. The measured mean transverse momentum of (anti-)deuterons in pp is not reproduced by the Blast-Wave model calculations that simultaneously describe pion, kaon and proton spectra, in contrast to central Pb–Pb collisions. The ratio between the pT-integrated yield of deuterons to protons, d/p, is found to increase with the chargedparticle multiplicity, as observed in inelastic pp collisions at different centre-of-mass energies. The d/p ratios are reported in a wide range, from the lowest to the highest multiplicity values measured in pp collisions at the LHC.
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.
Acharya, Shreyasi ; Torales Acosta, Fernando ; Adamová, Dagmar ; Adler, Alexander ; Adolfsson, Jonatan ; Aggarwal, Madan Mohan ; Aglieri Rinella, Gianluca ; Agnello, Michelangelo ; Agrawal, Neelima ; Ahammed, Zubayer ; Ahn, Sang Un ; Aiola, Salvatore ; Akindinov, Alexander ; Al-Turany, Mohammad ; Alam, Sk Noor ; Albuquerque, Danilo Silva de ; Aleksandrov, Dmitry ; Alessandro, Bruno ; Alfanda, Haidar Mas’ud ; Alfaro Molina, Jose Ruben ; Ali, Yasir ; Alici, Andrea ; Alkin, Anton ; Alme, Johan ; Alt, Torsten ; Altenkämper, Lucas ; Altsybeev, Igor ; Anaam, Mustafa Naji ; Andrei, Cristian ; Andreou, Dimitra ; Andrews, Harry Arthur ; Andronic, Anton ; Angeletti, Massimo ; Anguelov, Venelin ; Anson, Christopher Daniel ; Antičić, Tome ; Antinori, Federico ; Antonioli, Pietro ; Anwar, Rafay ; Apadula, Nicole ; Aphecetche, Laurent Bernard ; Appelshäuser, Harald ; Arcelli, Silvia ; Arnaldi, Roberta ; Arratia, Miguel ; Arsene, Ionut Cristian ; Arslandok, Mesut ; Augustinus, Andre ; Averbeck, Ralf Peter ; Azmi, Mohd Danish ; Badalà, Angela ; Baek, Yong Wook ; Bagnasco, Stefano ; Bailhache, Raphaëlle ; Bala, Renu ; Baldisseri, Alberto ; Ball, Markus ; Baral, Rama Chandra ; Barbano, Anastasia Maria ; Barbera, Roberto ; Barile, Francesco ; Barioglio, Luca ; Barnaföldi, Gergely Gábor ; Barnby, Lee Stuart ; Barret, Valerie ; Bartalini, Paolo ; Barth, Klaus ; Bartsch, Esther ; Bastid, Nicole ; Basu, Sumit ; Batigne, Guillaume ; Batyunya, Boris ; Bätzing, Paul Christoph ; Bazo Alba, José Luis ; Bearden, Ian Gardner ; Beck, Hans ; Bedda, Cristina ; Behera, Nirbhay Kumar ; Belikov, Iouri ; Bellini, Francesca ; Bello Martinez, Hector ; Bellwied, Rene ; Espinoza Beltran, Lucina Gabriela ; Belyaev, Vladimir ; Bencédi, Gyula ; Beolè, Stefania ; Bercuci, Alexandru ; Berdnikov, Yaroslav ; Berényi, Dániel ; Bertens, Redmer Alexander ; Berzano, Dario ; Betev, Latchezar ; Bhaduri, Partha Pratim ; Bhasin, Anju ; Bhat, Inayat Rasool ; Bhatt, Himani ; Bhattacharjee, Buddhadeb ; Bhom, Jihyun ; Bianchi, Antonio ; Bianchi, Livio ; Bianchi, Nicola ; Bielčík, Jaroslav ; Bielčíková, Jana ; Bilandzic, Ante ; Biro, Gabor ; Biswas, Rathijit ; Biswas, Saikat ; Blair, Justin Thomas ; Blau, Dmitry S. ; Blume, Christoph ; Boca, Gianluigi ; Bock, Friederike ; Bogdanov, Alexey A. ; Boldizsár, László ; Bolozdynya, Alexander I. ; Bombara, Marek ; Bonomi, Germano ; Bonora, Matthias ; Borel, Hervé ; Borissov, Alexander ; Borri, Marcello ; Botta, Elena ; Bourjau, Christian ; Bratrud, Lars ; Braun-Munzinger, Peter ; Bregant, Marco ; Broker, Theo Alexander ; Broz, Michal ; Brücken, Erik Jens ; Bruna, Elena ; Bruno, Giuseppe Eugenio ; Budnikov, Dmitry ; Büsching, Henner ; Bufalino, Stefania ; Bühler, Paul ; Bunčić, Predrag ; Busch, Oliver ; Buthelezi, Edith Zinhle ; Butt, Jamila Bashir ; Buxton, Jesse Thomas ; Cabala, Jan ; Caffarri, Davide ; Caines, Helen Louise ; Caliva, Alberto ; Calvo Villar, Ernesto ; Soto Camacho, Rabi ; Camerini, Paolo ; Capon, Aaron Allan ; Carena, Wisla ; Carnesecchi, Francesca ; Castillo Castellanos, Javier Ernesto ; Castro, Andrew John ; Casula, Ester Anna Rita ; Ceballos Sanchez, Cesar ; Chandra, Sinjini ; Chang, Beom-Su ; Chang, Wan ; Chapeland, Sylvain ; Chartier, Marielle ; Chattopadhyay, Subhasis ; Chattopadhyay, Sukalyan ; Chauvin, Alex Henri Jean ; Cheshkov, Cvetan Valeriev ; Cheynis, Brigitte ; Chibante Barroso, Vasco Miguel ; Chinellato, David Dobrigkeit ; Cho, Soyeon ; Chochula, Peter ; Chowdhury, Tasnuva ; Christakoglou, Panagiotis ; Christensen, Christian Holm ; Christiansen, Peter L. ; Chujo, Tatsuya ; Chung, Suh-Urk ; Cicalò, Corrado ; Cifarelli, Luisa ; Cindolo, Federico ; Cleymans, Jean Willy Andre ; Colamaria, Fabio Filippo ; Colella, Domenico ; Collu, Alberto ; Colocci, Manuel ; Concas, Matteo ; Conesa Balbastre, Gustavo ; Conesa del Valle, Zaida ; Contreras Nuno, Jesus Guillermo ; Cormier, Thomas Michael ; Corrales Morales, Yasser ; Cortese, Pietro ; Cosentino, Mauro Rogerio ; Costa, Filippo ; Costanza, Susanna ; Crkovská, Jana ; Crochet, Philippe ; Cuautle Flores, Eleazar ; Cunqueiro Mendez, Leticia ; Dąbrowski, Daniel ; Dahms, Torsten ; Dainese, Andrea ; Damas, Florian Paul André ; Dani, Sanskruti ; Danisch, Meike Charlotte ; Danu, Andrea ; Das, Debasish ; Das, Indranil ; Das, Supriya ; Dash, Ajay Kumar ; Dash, Sadhana ; De, Sudipan ; De Caro, Annalisa ; De Cataldo, Giacinto ; Conti, Camila de ; Cuveland, Jan de ; De Falco, Alessandro ; De Gruttola, Daniele ; De Marco, Nora ; De Pasquale, Salvatore ; Souza, Rafael Derradi de ; Degenhardt, Hermann Franz ; Deisting, Alexander ; Deloff, Andrzej ; Delsanto, Silvia ; Deplano, Caterina ; Dhankher, Preeti ; Di Bari, Domenico ; Di Mauro, Antonio ; Di Ruzza, Benedetto ; Arteche Díaz, Raúl ; Dietel, Thomas ; Dillenseger, Pascal ; Ding, Yanchun ; Divià, Roberto ; Djuvsland, Øystein ; Dobrin, Alexandru Florin ; Domenicis Gimenez, Diogenes ; Dönigus, Benjamin ; Dordic, Olja ; Dubey, Anand Kumar ; Dubla, Andrea ; Ducroux, Laurent ; Dudi, Sandeep ; Duggal, Ashpreet Kaur ; Dukhishyam, Mallick ; Dupieux, Pascal ; Ehlers, Raymond James ; Elia, Domenico ; Endress, Eric ; Engel, Heiko ; Epple, Eliane ; Erazmus, Barbara Ewa ; Erhardt, Filip ; Erokhin, Andrey ; Ersdal, Magnus Rentsch ; Espagnon, Bruno ; Eulisse, Giulio ; Eum, Jongsik ; Evans, David ; Evdokimov, Sergey ; Fabbietti, Laura ; Faggin, Mattia ; Faivre, Julien ; Fantoni, Alessandra ; Fasel, Markus ; Feldkamp, Linus ; Feliciello, Alessandro ; Feofilov, Grigori A. ; Fernández Téllez, Arturo ; Ferretti, Alessandro ; Festanti, Andrea ; Feuillard, Victor Jose Gaston ; Figiel, Jan ; Figueredo, Marcel Araujo Silva ; Filchagin, Sergey ; Finogeev, Dmitry ; Fionda, Fiorella Maria Celeste ; Fiorenza, Gabriele ; Flor, Fernando Antonio ; Floris, Michele ; Foertsch, Siegfried Valentin ; Foka, Panagiota ; Fokin, Sergey ; Fragiacomo, Enrico ; Francescon, Andrea ; Francisco, Audrey ; Frankenfeld, Ulrich ; Fronzé, Gabriele Gaetano ; Fuchs, Ulrich ; Furget, Christophe ; Furs, Artur ; Fusco Girard, Mario ; Gaardhøje, Jens Jørgen ; Gagliardi, Martino ; Gago Medina, Alberto Martín ; Gajdosova, Katarina ; 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We present the first measurements of femtoscopic correlations between the K0 S and K± particles in pp collisions at √s = 7 TeV measured by the ALICE experiment. The observed femtoscopic correlations are consistent with final-state interactions proceeding solely via the a0(980) resonance. The extracted kaon source radius and correlation strength parameters for K0 SK− are found to be equal within the experimental uncertainties to those for K0 SK+. Results of the present study are compared with those from identical-kaon femtoscopic studies also performed with pp collisions at √s = 7 TeV by ALICE andwith a K0 SK± measurement in Pb–Pb collisions at √sNN = 2.76 TeV. Combined with the Pb–Pb results, our pp analysis is found to be compatible with th e interpretation of the a0(980) having a tetraquark structure instead of that of a diquark.
Fusco, Claudia Mariateresa ; Desch, Kristina ; Dörrbaum, Aline Ricarda ; Wang, Mantian ; Staab, Anja ; Chan, Ivy C. W. ; Vail, Eleanor ; Villeri, Veronica ; Langer, Julian D. ; Schuman, Erin M.
Owing to their morphological complexity and dense network connections, neurons modify their proteomes locally, using mRNAs and ribosomes present in the neuropil (tissue enriched for dendrites and axons). Although ribosome biogenesis largely takes place in the nucleus and perinuclear region, neuronal ribosomal protein (RP) mRNAs have been frequently detected remotely, in dendrites and axons. Here, using imaging and ribosome profiling, we directly detected the RP mRNAs and their translation in the neuropil. Combining brief metabolic labeling with mass spectrometry, we found that a group of RPs rapidly associated with translating ribosomes in the cytoplasm and that this incorporation was independent of canonical ribosome biogenesis. Moreover, the incorporation probability of some RPs was regulated by location (neurites vs. cell bodies) and changes in the cellular environment (following oxidative stress). Our results suggest new mechanisms for the local activation, repair and/or specialization of the translational machinery within neuronal processes, potentially allowing neuronal synapses a rapid means to regulate local protein synthesis.
Fusco, Claudia Mariateresa ; Desch, Kristina ; Dörrbaum, Aline Ricarda ; Wang, Mantian ; Staab, Anja ; Chan, Ivy C.W. ; Vail, Eleanor ; Villeri, Veronica ; Langer, Julian D. ; Schuman, Erin M.
Owing to their morphological complexity and dense network connections, neurons modify their proteomes locally, using mRNAs and ribosomes present in the neuropil (tissue enriched for dendrites and axons). Although ribosome biogenesis largely takes place in the nucleus and perinuclear region, neuronal ribosomal protein (RP) mRNAs have been frequently detected remotely, in dendrites and axons. Here, using imaging and ribosome profiling, we directly detected the RP mRNAs and their translation in the neuropil. Combining brief metabolic labeling with mass spectrometry, we found that a group of RPs quickly associated with translating ribosomes in the cytoplasm and that this incorporation is independent of canonical ribosome biogenesis. Moreover, the incorporation probability of some RPs was regulated by location (neurites vs. cell bodies) and changes in the cellular environment (in response to oxidative stress). Our results suggest new mechanisms for the local activation, repair and/or specialization of the translational machinery within neuronal processes, potentially allowing remote neuronal synapses a rapid solution to the relatively slow and energy-demanding requirement of nuclear ribosome biogenesis.