| 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 | 530 | 2017 |
| Discovery and genotyping of structural variation from long-read haploid genome sequence data J Huddleston, MJP Chaisson, KM Steinberg, W Warren, K Hoekzema, ... Genome research 27 (5), 677-685, 2017 | 395 | 2017 |
| High-resolution comparative analysis of great ape genomes ZN Kronenberg, IT Fiddes, D Gordon, S Murali, S Cantsilieris, ... Science 360 (6393), eaar6343, 2018 | 367 | 2018 |
| A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 363 | 2023 |
| 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 | 351 | 2016 |
| 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 | 347 | 2017 |
| 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 | 316 | 2016 |
| The structure, function and evolution of a complete human chromosome 8 GA Logsdon, MR Vollger, PH Hsieh, Y Mao, MA Liskovykh, S Koren, ... Nature 593 (7857), 101-107, 2021 | 267 | 2021 |
| Segmental duplications and their variation in a complete human genome MR Vollger, X Guitart, PC Dishuck, L Mercuri, WT Harvey, A Gershman, ... Science 376 (6588), eabj6965, 2022 | 183 | 2022 |
| 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 | 175 | 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 | 169 | 2016 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 147 | 2020 |
| 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 | 147 | 2017 |
| Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 135 | 2021 |
| 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 | 135 | 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 | 111 | 2019 |
| What influences the worldwide genetic structure of sperm whales (Physeter macrocephalus)? A Alexander, D Steel, K Hoekzema, SL Mesnick, D Engelhaupt, I Kerr, ... Molecular ecology 25 (12), 2754-2772, 2016 | 100 | 2016 |
| 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 | 96 | 2021 |
| Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes PH Hsieh, MR Vollger, V Dang, D Porubsky, C Baker, S Cantsilieris, ... Science 366 (6463), eaax2083, 2019 | 72 | 2019 |
| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 63 | 2021 |
