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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 Int HapMap 3 Consortium and International HapMap 3 Consortium and The International HapMap 3 Consortium
Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7311, pp. 52 - 58
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 367 - 368
Journal Article
by De Rubeis, Silvia and He, Xin and Goldberg, Arthur P and Poultney, Christopher S and Samocha, Kaitlin and Cicek, A. Ercument 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 Hill, R. Sean and Ionita-Laza, Iuliana and Gonzalez, Patricia Jimenez 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 Willsey, A. Jeremy 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 Homozygosity Mapping Collaborative and DDD Study and Autism Sequencing Consortium and UK10K Consortium and Homozygosity Mapping Collaborative for Autism and The Autism Sequencing Consortium and The DDD Study
Nature, ISSN 0028-0836, 11/2014, Volume 515, Issue 7526, pp. 209 - 215
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 367 - 368
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, p. 367
  It is a great pleasure to introduce my close friend and colleague Mark Daly, the 2014 recipient of the Curt Stern Award, which is presented yearly for... 
Awards & honors | Genetics | Scientists
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, p. 367
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 4/2011, Volume 126, Issue 3, pp. 717 - 727
Journal Article
Neuron, 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
PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 7, p. e1004494
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on... 
PROFILE | GENE | MUTATION | DISEASE | GENETICS & HEREDITY | LEVEL | ASSOCIATION | CARDIOVASCULAR RISK | Physiological aspects | Genetic research | Genome-wide association studies | Research | Lipoprotein A | Heart attacks | Disease | Genomics | Genes | Biomarkers | Medical records | Population | Grants
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 506, Issue 7487, pp. 179 - 184
Journal Article
Nature, ISSN 0028-0836, 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 | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article