Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ... Nature 485 (7397), 246-250, 2012 | 2436 | 2012 |
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ... Nature 459 (7246), 569-573, 2009 | 1620 | 2009 |
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ... Nature genetics 43 (6), 585-589, 2011 | 1441 | 2011 |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ... Science 338 (6114), 1619-1622, 2012 | 1436 | 2012 |
Common genetic variants on 5p14. 1 associate with autism spectrum disorders K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ... Nature 459 (7246), 528-533, 2009 | 1147 | 2009 |
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1101 | 2014 |
Disruptive CHD8 mutations define a subtype of autism early in development R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ... Cell 158 (2), 263-276, 2014 | 832 | 2014 |
A multisite study of the clinical diagnosis of different autism spectrum disorders C Lord, E Petkova, V Hus, W Gan, F Lu, DM Martin, O Ousley, L Guy, ... Archives of general psychiatry 69 (3), 306-313, 2012 | 732 | 2012 |
Excess of rare, inherited truncating mutations in autism N Krumm, TN Turner, C Baker, L Vives, K Mohajeri, K Witherspoon, ... Nature genetics 47 (6), 582-588, 2015 | 641 | 2015 |
Children referred for possible sexual abuse: medical findings in 2384 children A Heger, L Ticson, O Velasquez, R Bernier Child abuse & neglect 26 (6-7), 645-659, 2002 | 554 | 2002 |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 553 | 2017 |
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978-985, 2017 | 489 | 2017 |
EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder R Bernier, G Dawson, S Webb, M Murias Brain and cognition 64 (3), 228-237, 2007 | 461 | 2007 |
An autosomal genomic screen for autism. Collaborative linkage study of autism. S Barrett, JC Beck, R Bernier, E Bisson, TA Braun, TL Casavant, ... American journal of medical genetics 88 (6), 609-615, 1999 | 392 | 1999 |
Relative burden of large CNVs on a range of neurodevelopmental phenotypes S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ... PLoS genetics 7 (11), e1002334, 2011 | 372 | 2011 |
Recurrent de novo mutations implicate novel genes underlying simplex autism risk BJ O'roak, HA Stessman, EA Boyle, KT Witherspoon, B Martin, C Lee, ... Nature communications 5 (1), 5595, 2014 | 361 | 2014 |
SPARK: A US cohort of 50,000 families to accelerate autism research P Feliciano, AM Daniels, LAG Snyder, A Beaumont, A Camba, A Esler, ... Neuron 97 (3), 488-493, 2018 | 360 | 2018 |
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia Molecular autism 8, 1-17, 2017 | 351 | 2017 |
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder S Girirajan, MY Dennis, C Baker, M Malig, BP Coe, CD Campbell, K Mark, ... The American Journal of Human Genetics 92 (2), 221-237, 2013 | 349 | 2013 |
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012 | 317 | 2012 |