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American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 367 - 368
Journal Article
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, 2010, Volume 467, Issue 7311, pp. 52 - 58
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 | CCDC88C | MUTATIONS | 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
by Lek, Monkol and Karczewski, Konrad J and Minikel, Eric V and Samocha, Kaitlin E and Banks, Eric and Fennell, Timothy and O’Donnell-Luria, Anne H and Ware, James S and Hill, Andrew J and Cummings, Beryl B and Tukiainen, Taru and Birnbaum, Daniel P and Kosmicki, Jack A and Duncan, Laramie E and Estrada, Karol and Zhao, Fengmei and Zou, James and Pierce-Hoffman, Emma and Berghout, Joanne and Cooper, David N and Deflaux, Nicole and DePristo, Mark and Do, Ron and Flannick, Jason and Fromer, Menachem and Gauthier, Laura and Goldstein, Jackie and Gupta, Namrata and Howrigan, Daniel and Kiezun, Adam and Kurki, Mitja I and Moonshine, Ami Levy and Natarajan, Pradeep and Orozco, Lorena and Peloso, Gina M and Poplin, Ryan and Rivas, Manuel A and Ruano-Rubio, Valentin and Rose, Samuel A and Ruderfer, Douglas M and Shakir, Khalid and Stenson, Peter D and Stevens, Christine and Thomas, Brett P and Tiao, Grace and Tusie-Luna, Maria T and Weisburd, Ben and Won, Hong-Hee and Yu, Dongmei and Altshuler, David M and Ardissino, Diego and Boehnke, Michael and Danesh, John and Donnelly, Stacey and Elosua, Roberto and Florez, Jose C and Gabriel, Stacey B and Getz, Gad and Glatt, Stephen J and Hultman, Christina M and Kathiresan, Sekar and Laakso, Markku and McCarroll, Steven and McCarthy, Mark I and McGovern, Dermot and McPherson, Ruth and Neale, Benjamin M and Palotie, Aarno and Purcell, Shaun M and Saleheen, Danish and Scharf, Jeremiah M and Sklar, Pamela and Sullivan, Patrick F and Tuomilehto, Jaakko and Tsuang, Ming T and Watkins, Hugh C and Wilson, James G and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium
Nature (London), ISSN 1476-4687, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Databases | Disease | Genes | Principal components analysis | Genetics | Genomes
Journal Article
Nature (London), ISSN 1476-4687, 2014, Volume 506, Issue 7487, pp. 179 - 184
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, 2014, Volume 515, Issue 7526, pp. 209 - 215
Journal Article
Nature genetics, ISSN 1546-1718, 2016, Volume 48, Issue 10, pp. 1279 - 1283
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly... 
POPULATION | RARE VARIANTS | SEQUENCE | GENOME-WIDE ASSOCIATION | Studies | Datasets | Haplotypes | Consortia | Accuracy | Genealogy | Researchers | Genomics | Collaboration | Genomes | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article