| Excess of rare, inherited truncating mutations in autism N Krumm, TN Turner, C Baker, L Vives, K Mohajeri, K Witherspoon, A Raja, BP ... Nature Genetics, 2015 | 626 | 2015 |
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 511 | 2017 |
| Genomic Patterns of De Novo Mutation in Simplex Autism TN Turner, BP Coe, DE Dickel, K Hoekzema, BJ Nelson, MC Zody, ... Cell 171 (3), 710-722. e12, 2017 | 350 | 2017 |
| 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 | 312 | 2016 |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang, L Brueggeman, ... NPJ genomic medicine 4 (1), 19, 2019 | 190 | 2019 |
| 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 |
| Loss of δ-catenin function in severe autism TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ... Nature 520 (7545), 51-56, 2015 | 167 | 2015 |
| Single-cell epigenomics reveals mechanisms of human cortical development RS Ziffra, CN Kim, JM Ross, A Wilfert, TN Turner, M Haeussler, ... Nature 598 (7879), 205-213, 2021 | 163 | 2021 |
| Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease JM Tilghman, AY Ling, TN Turner, MX Sosa, N Krumm, S Chatterjee, ... New England Journal of Medicine 380 (15), 1421-1432, 2019 | 148 | 2019 |
| Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications AB Wilfert, A Sulovari, TN Turner, BP Coe, EE Eichler Genome Medicine 9, 1-16, 2017 | 137 | 2017 |
| Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya, JB Hall, JU Obiajulu, ... Nature genetics 54 (9), 1305-1319, 2022 | 132 | 2022 |
| denovo-db: a compendium of human de novo variants TN Turner, Q Yi, N Krumm, J Huddleston, K Hoekzema, HAF Stessman, ... Nucleic Acids Research 45 (D1), D804-D811, 2017 | 128 | 2017 |
| Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes H Guo, MH Duyzend, BP Coe, C Baker, K Hoekzema, J Gerdts, TN Turner, ... Genetics in Medicine 21 (7), 1611-1620, 2019 | 108 | 2019 |
| Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders TN Turner, AB Wilfert, TE Bakken, RA Bernier, MR Pepper, Z Zhang, ... The American Journal of Human Genetics 105 (6), 1274-1285, 2019 | 97 | 2019 |
| Recent ultra-rare inherited variants implicate new autism candidate risk genes AB Wilfert, TN Turner, SC Murali, PH Hsieh, A Sulovari, T Wang, BP Coe, ... Nature genetics 53 (8), 1125-1134, 2021 | 91 | 2021 |
| Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes TS Niranjan, C Skinner, M May, T Turner, R Rose, R Stevenson, ... PloS one 10 (2), e0116454, 2015 | 67 | 2015 |
| Clinical phenotype of ASD-associated DYRK1A haploinsufficiency RK Earl, TN Turner, HC Mefford, CM Hudac, J Gerdts, EE Eichler, ... Molecular autism 8, 1-15, 2017 | 63 | 2017 |
| The autism spectrum phenotype in ADNP syndrome AB Arnett, CL Rhoads, K Hoekzema, TN Turner, J Gerdts, AS Wallace, ... Autism Research 11 (9), 1300-1310, 2018 | 61 | 2018 |
| The role of de novo noncoding regulatory mutations in neurodevelopmental disorders TN Turner, EE Eichler Trends in neurosciences 42 (2), 115-127, 2019 | 58 | 2019 |
Evan EichlerProfessor of Genome Sciences, University of WashingtonVerified email at gs.washington.edu
