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Journal Article
PLoS genetics, ISSN 1553-7404, 2012, Volume 8, Issue 8, p. e1002843
Journal Article
by Northcott, Paul A and Shih, David J. H and Peacock, John and Garzia, Livia and Sorana Morrissy, A and Zichner, Thomas and Stútz, Adrian M and Korshunov, Andrey and Reimand, Júri and Schumacher, Steven E and Beroukhim, Rameen and Ellison, David W and Marshall, Christian R and Lionel, Anath C and MacK, Stephen and Dubuc, Adrian and Yao, Yuan and Ramaswamy, Vijay and Luu, Betty and Rolider, Adi and Cavalli, Florence M. G and Wang, Xin and Remke, Marc and Wu, Xiaochong and Chiu, Readman Y. B and Chu, Andy and Chuah, Eric and Corbett, Richard D and Hoad, Gemma R and Jackman, Shaun D and Li, Yisu and Lo, Allan and Mungall, Karen L and Ming Nip, Ka and Qian, Jenny Q and Raymond, Anthony G. J and Thiessen, Nina and Varhol, Richard J and Birol, Inanc and Moore, Richard A and Mungall, Andrew J and Holt, Robert and Kawauchi, Daisuke and Roussel, Martine F and Kool, Marcel and Jones, David T. W and Witt, Hendrick and Fernandez-L, Africa and Kenney, Anna M and Wechsler-Reya, Robert J and Dirks, Peter and Aviv, Tzvi and Grajkowska, Wieslawa A and Perek-Polnik, Marta and Haberler, Christine C and Delattre, Olivier and Reynaud, Stéphanie S and Doz, François F and Pernet-Fattet, Sarah S and Cho, Byung-Kyu and Kim, Seung-Ki and Wang, Kyu-Chang and Scheurlen, Wolfram and Eberhart, Charles G and Fèvre-Montange, Michelle and Jouvet, Anne and Pollack, Ian F and Fan, Xing and Muraszko, Karin M and Yancey Gillespie, G and Di Rocco, Concezio and Massimi, Luca and Michiels, Erna M. C and Kloosterhof, Nanne K and French, Pim J and Kros, Johan M and Olson, James M and Ellenbogen, Richard G and Zitterbart, Karel and Kren, Leos and Thompson, Reid C and Cooper, Michael K and Lach, Boleslaw and McLendon, Roger E and Bigner, Darell D and Fontebasso, Adam and Albrecht, Steffen and Jabado, Nada and Lindsey, Janet C and Bailey, Simon and Gupta, Nalin and Weiss, William A and Bognár, László and Klekner, Almos and Van Meter, Timothy E and Kumabe, Toshihiro and Tominaga, Teiji and Elbabaa, Samer K and Leonard, Jeffrey R and Rubin, Joshua B and ...
Nature (London), ISSN 0028-0836, 08/2012, Volume 487, Issue 7409, pp. 49 - 56
Journal Article
by Pinto, Dalila and Pagnamenta, Alistair T and Klei, Lambertus and Anney, Richard and Merico, Daniele and Regan, Regina and Conroy, Judith and Magalhaes, Tiago R and Correia, Catarina and Abrahams, Brett S and Almeida, Joana and Bacchelli, Elena and Bader, Gary D and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Bolshakova, Nadia and Bölte, Sven and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Brian, Jessica and Bryson, Susan E and Carson, Andrew R and Casallo, Guillermo and Casey, Jillian and Chung, Brian H.Y and Cochrane, Lynne and Corsello, Christina and Crawford, Emily L and Crossett, Andrew and Cytrynbaum, Cheryl and Dawson, Geraldine and de Jonge, Maretha and Delorme, Richard and Drmic, Irene and Duketis, Eftichia and Duque, Frederico and Estes, Annette and Farrar, Penny and Fernandez, Bridget A and Folstein, Susan E and Fombonne, Eric and Freitag, Christine M and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Goldberg, Jeremy and Green, Andrew and Green, Jonathan and Guter, Stephen J and Hakonarson, Hakon and Heron, Elizabeth A and Hill, Matthew and Holt, Richard and Howe, Jennifer L and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Kim, Cecilia and Klauck, Sabine M and Kolevzon, Alexander and Korvatska, Olena and Kustanovich, Vlad and Lajonchere, Clara M and Lamb, Janine A and Laskawiec, Magdalena and Leboyer, Marion and Le Couteur, Ann and Leventhal, Bennett L and Lionel, Anath C and Liu, Xiao-Qing and Lord, Catherine and Lotspeich, Linda and Lund, Sabata C and Maestrini, Elena and Mahoney, William and Mantoulan, Carine and Marshall, Christian R and McConachie, Helen and McDougle, Christopher J and McGrath, Jane and McMahon, William M and Merikangas, Alison and Migita, Ohsuke and Minshew, Nancy J and Mirza, Ghazala K and Munson, Jeff and Nelson, Stanley F and Noakes, Carolyn and Noor, Abdul and Nygren, Gudrun and Oliveira, Guiomar and Papanikolaou, Katerina and Parr, Jeremy R and Parrini, Barbara and Paton, Tara and Pickles, Andrew and Pilorge, Marion and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature (London), ISSN 1476-4687, 2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article
Genetics in medicine, ISSN 1530-0366, 2017, Volume 20, Issue 4, pp. 435 - 443
...Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Anath C... 
diagnostics | copy number variation | next-generation sequencing | noncoding | whole-genome sequencing | SUCCESS | VARIANTS | MENDELIAN DISORDERS | AMERICAN-COLLEGE | MEDICAL GENETICS | IDENTIFICATION | INFANTS | GENETICS & HEREDITY | CAUSE INTELLECTUAL DISABILITY | MUTATIONS | CLINICAL EXOME | Pediatrics | Genes | Genomes | Original
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2012, Volume 90, Issue 5, pp. 879 - 887
Journal Article
Human molecular genetics, ISSN 1460-2083, 2008, Volume 17, Issue 24, pp. 4045 - 4053
Journal Article