| Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ... Nature 515 (7526), 209-215, 2014 | 2696 | 2014 |
| The contribution of de novo coding mutations to autism spectrum disorder I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ... Nature 515 (7526), 216-221, 2014 | 2555 | 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 | 799 | 2014 |
| 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 | 626 | 2015 |
| 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 | 512 | 2017 |
| 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 | 350 | 2014 |
| De novo genic mutations among a Chinese autism spectrum disorder cohort T Wang, H Guo, B Xiong, HAF Stessman, H Wu, BP Coe, TN Turner, Y Liu, ... Nature communications 7 (1), 13316, 2016 | 346 | 2016 |
| Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA TN Turner, F Hormozdiari, MH Duyzend, SA McClymont, PW Hook, ... The American Journal of Human Genetics 98 (1), 58-74, 2016 | 313 | 2016 |
| Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity BP Coe, HAF Stessman, A Sulovari, MR Geisheker, TE Bakken, AM Lake, ... Nature genetics 51 (1), 106-116, 2019 | 273 | 2019 |
| A genotype-first approach to defining the subtypes of a complex disease HA Stessman, R Bernier, EE Eichler Cell 156 (5), 872-877, 2014 | 266 | 2014 |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature neuroscience 20 (8), 1043-1051, 2017 | 171 | 2017 |
| Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 167 | 2016 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 145 | 2017 |
| The evolution and population diversity of human-specific segmental duplications MY Dennis, L Harshman, BJ Nelson, O Penn, S Cantsilieris, J Huddleston, ... Nature ecology & evolution 1 (3), 0069, 2017 | 145 | 2017 |
| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 129 | 2019 |
| denovo-db: a compendium of human de novo variants TN Turner, Q Yi, N Krumm, J Huddleston, K Hoekzema, HA F. Stessman, ... Nucleic acids research 45 (D1), D804-D811, 2017 | 128 | 2017 |
| ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations DH Chen, A Méneret, JR Friedman, O Korvatska, A Gad, ES Bonkowski, ... Neurology 85 (23), 2026-2035, 2015 | 121 | 2015 |
| De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 115 | 2017 |
| Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility X Nuttle, G Giannuzzi, MH Duyzend, JG Schraiber, I Narvaiza, ... Nature 536 (7615), 205-209, 2016 | 115 | 2016 |
| Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model HAF Stessman, LB Baughn, A Sarver, T Xia, R Deshpande, A Mansoor, ... Molecular cancer therapeutics 12 (6), 1140-1150, 2013 | 90 | 2013 |
