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Cell Cycle, ISSN 1538-4101, 09/2015, Volume 14, Issue 18, pp. 2985 - 2995
Previous research indicates that the GABA(A)ergic system is involved in the pathophysiology of the fragile X syndrome, a frequent form of inherited... 
targeted therapy | SEQUENCES | fragile X syndrome | KNOCKOUT MOUSE MODEL | ACOUSTIC STARTLE RESPONSE | Fmr1 knockout mouse | MECHANISMS | CELL BIOLOGY | MESSENGER-RNAS | ganaxolone | GABA(A) receptor | MICE | FMRP mRNA target | SENSORIMOTOR GATING ABNORMALITIES | MENTAL-RETARDATION PROTEIN | EXPRESSION
Journal Article
Current Opinion in Neurobiology, ISSN 0959-4388, 12/2019, Volume 59, pp. 102 - 111
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social deficits and restrictive and/or repetitive behaviors. The... 
Journal Article
Cerebral Cortex, ISSN 1047-3211, 05/2019, Volume 29, Issue 5, pp. 2228 - 2244
Abstract Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the FMR1 gene. It is a leading monogenic cause of autism spectrum... 
RNA sequencing | medial prefrontal cortex | POINT MUTATION | fragile X syndrome | BRAIN-DEVELOPMENT | KNOCKOUT MICE | PROTEIN-SYNTHESIS | NEUROSCIENCES | 5-choice serial reaction time task | REACTION-TIME-TASK | HYPERACTIVITY DISORDER | MESSENGER-RNAS | MOUSE MODEL | IN-VIVO | FRAGILE-X-SYNDROME | Original
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 1, pp. R24 - R31
Journal Article
Nature neuroscience, ISSN 1097-6256, 9/2017, Volume 20, Issue 9, pp. 1217 - 1224
We systematically analyzed post-zygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder... 
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2014, Volume 10, Issue 12
  Pinpointing the small number of causal variants among the abundant naturally occurring genetic variation is a difficult challenge, but a crucial one for... 
Studies | Medical research | Statistical methods | Genomes
Journal Article
ISSN 1553-7390, 2014
Pinpointing the small number of causal variants among the abundant naturally occurring genetic variation is a difficult challenge, but a crucial one for... 
Autism | Genetic disorders | Genetics | Human genetics--Variation | Biometry
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
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 6/2015, Volume 15, Issue 6, pp. 1 - 9
Journal Article