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by Altshuler, David M and Gibbs, Richard A and Peltonen, Leena and Schaffner, Stephen F and Yu, Fuli and Dermitzakis, Emmanouil and Bonnen, Penelope E and De Bakker, Paul I. W and Deloukas, Panos and Gabriel, Stacey B and Gwilliam, Rhian and Hunt, Sarah and Inouye, Michael and Jia, Xiaoming and Aarno Palotie, Palotie and Parkin, Melissa and Whittaker, Pamela and Chang, Kyle and Hawes, Alicia and Lewis, Lora R and Ren, Yanru and Wheeler, David and Muzny, Donna Marie and Barnes, Chris and Darvishi, Katayoon and Hurles, Matthew and Korn, Joshua M and Kristiansson, Kati and Lee, Charles and McCarroll, Steven A and Nemesh, James and Keinan, Alon and Montgomery, Stephen B and Samuela Pollack, Pollack and Price, Alkes L and Soranzo, Nicole and Gonzaga-Jauregui, Claudia and Anttila, Verneri and Brodeur, Wendy and Daly, Mark J and Leslie, Stephen and McVean, Gil and Moutsianas, Loukas and Nguyen, Huy and Zhang, Qingrun and Ghori, Mohammed J. R and McGinnis, Ralph and McLaren, William and Pollack, Samuela and Takeuchi, Fumihiko and Grossman, Sharon R and Shlyakhter, Ilya and Hostetter, Elizabeth B and Sabeti, Pardis C and Adebamowo, Clement A and Foster, Morris W and Gordon, Deborah R and Licinio, Julio and Manca, Maria Cristina and Marshall, Patricia A and Matsuda, Ichiro and Ngare, Duncan and Wang, Vivian Ota and Reddy, Deepa and Rotimi, Charles N and Royal, Charmaine D and Sharp, Richard R and Zeng, Changqing and Brooks, D.B and McEwen, Jean E and The International HapMap 3 Consortium and Int HapMap 3 Consortium and International HapMap 3 Consortium
Nature (London), ISSN 1476-4687, 09/2010, Volume 467, Issue 7311, pp. 52 - 58
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Population Groups - genetics | Polymorphism, Single Nucleotide | Genome, Human | Human Genome Project | Humans | DNA Copy Number Variations | Human genome | Genetic variation | Research | Genetics | Algorithms | Genetic testing | Genomics | Quality control | Index Medicus
Journal Article
Breast cancer research and treatment, ISSN 0167-6806, 4/2011, Volume 126, Issue 3, pp. 717 - 727
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 07/2018, Volume 99, Issue 2, pp. 246 - 247
A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on which previous knowledge of the genetic background is scanty.... 
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biology | Neural Stem Cells | Mutation | Hydrocephalus | Humans | Genetic disorders | Research institutes | Population genetics | Epilepsy | Pediatrics | Genetic counseling | Congenital diseases | Disease | Comorbidity | Etiology | Genes | Genetics | Neurogenesis
Journal Article
The New England journal of medicine, ISSN 1533-4406, 09/2017, Volume 377, Issue 12, pp. 1156 - 1167
Journal Article
by De Rubeis, Silvia and He, Xin and Goldberg, Arthur P and Poultney, Christopher S and Samocha, Kaitlin and Ercument Cicek, A and Kou, Yan and Liu, Li and Fromer, Menachem and Walker, Susan and Singh, Tarjinder and Klei, Lambertus and Kosmicki, Jack and Fu, Shih-Chen and Aleksic, Branko and Biscaldi, Monica and Bolton, Patrick F and Brownfeld, Jessica M and Cai, Jinlu and Campbell, Nicholas G and Carracedo, Angel and Chahrour, Maria H and Chiocchetti, Andreas G and Coon, Hilary and Crawford, Emily L and Crooks, Lucy and Curran, Sarah R and Dawson, Geraldine and Duketis, Eftichia and Fernandez, Bridget A and Gallagher, Louise and Geller, Evan and Guter, Stephen J and Sean Hill, R and Ionita-Laza, Iuliana and Jimenez Gonzalez, Patricia and Kilpinen, Helena and Klauck, Sabine M and Kolevzon, Alexander and Lee, Irene and Lei, Jing and Lehtimäki, Terho and Lin, Chiao-Feng and Ma’ayan, Avi and Marshall, Christian R and McInnes, Alison L and Neale, Benjamin and Owen, Michael J and Ozaki, Norio and Parellada, Mara and Parr, Jeremy R and Purcell, Shaun and Puura, Kaija and Rajagopalan, Deepthi and Rehnström, Karola and Reichenberg, Abraham and Sabo, Aniko and Sachse, Michael and Sanders, Stephan J and Schafer, Chad and Schulte-Rüther, Martin and Skuse, David and Stevens, Christine and Szatmari, Peter and Tammimies, Kristiina and Valladares, Otto and Voran, Annette and Wang, Li-San and Weiss, Lauren A and Jeremy Willsey, A and Yu, Timothy W and Yuen, Ryan K. C and Cook, Edwin H and Freitag, Christine M and Gill, Michael and Hultman, Christina M and Lehner, Thomas and Palotie, Aarno and Schellenberg, Gerard D and Sklar, Pamela and State, Matthew W and Sutcliffe, James S and Walsh, Christopher A and Scherer, Stephen W and Zwick, Michael E and Barrett, Jeffrey C and Cutler, David J and Roeder, Kathryn and Devlin, Bernie and Daly, Mark J and Buxbaum, Joseph D and The Autism Sequencing Consortium and The DDD Study and Homozygosity Mapping Collaborative for Autism and UK10K Consortium and Homozygosity Mapping Collaborative and DDD Study and Autism Sequencing Consortium
Nature (London), ISSN 1476-4687, 10/2014, Volume 515, Issue 7526, pp. 209 - 215
The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene mutations | Analysis | Pervasive developmental disorders | Research | Genetic transcription | Nucleotide sequencing | Health aspects | DNA sequencing | Studies | Autism | Neurosciences | Chromatin | Mutation | Genes | Index Medicus
Journal Article
Nature genetics, ISSN 1546-1718, 06/2017, Volume 49, Issue 8, pp. 1167 - 1173
Journal Article
by Surakka, Ida and Horikoshi, Momoko and Mägi, Reedik and Sarin, Antti-Pekka and Mahajan, Anubha and Lagou, Vasiliki and Marullo, Letizia and Ferreira, Teresa and Miraglio, Benjamin and Timonen, Sanna and Kettunen, Johannes and Pirinen, Matti and Karjalainen, Juha and Thorleifsson, Gudmar and Hägg, Sara and Hottenga, Jouke-Jan and Isaacs, Aaron and Ladenvall, Claes and Beekman, Marian and Esko, Tõnu and Ried, Janina S and Nelson, Christopher P and Willenborg, Christina and Gustafsson, Stefan and Westra, Harm-Jan and Blades, Matthew and de Craen, Anton J M and de Geus, Eco J and Deelen, Joris and Grallert, Harald and Hamsten, Anders and Havulinna, Aki S and Hengstenberg, Christian and Houwing-Duistermaat, Jeanine J and Hyppönen, Elina and Karssen, Lennart C and Lehtimäki, Terho and Lyssenko, Valeriya and Magnusson, Patrik K E and Mihailov, Evelin and Müller-Nurasyid, Martina and Mpindi, John-Patrick and Pedersen, Nancy L and Penninx, Brenda W J H and Perola, Markus and Pers, Tune H and Peters, Annette and Rung, Johan and Smit, Johannes H and Steinthorsdottir, Valgerdur and Tobin, Martin D and Tsernikova, Natalia and van Leeuwen, Elisabeth M and Viikari, Jorma S and Willems, Sara M and Willemsen, Gonneke and Schunkert, Heribert and Erdmann, Jeanette and Samani, Nilesh J and Kaprio, Jaakko and Lind, Lars and Gieger, Christian and Metspalu, Andres and Slagboom, P Eline and Groop, Leif and van Duijn, Cornelia M and Eriksson, Johan G and Jula, Antti and Salomaa, Veikko and Boomsma, Dorret I and Power, Christine and Raitakari, Olli T and Ingelsson, Erik and Järvelin, Marjo-Riitta and Thorsteinsdottir, Unnur and Franke, Lude and Ikonen, Elina and Kallioniemi, Olli and Pietiäinen, Vilja and Lindgren, Cecilia M and Stefansson, Kari and Palotie, Aarno and McCarthy, Mark I and Morris, Andrew P and Prokopenko, Inga and Ripatti, Samuli and ENGAGE Consortium
Nature genetics, ISSN 1546-1718, 05/2015, Volume 47, Issue 6, pp. 589 - 597
Journal Article