Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1944 | 2020 |
Cell-type-specific alternative splicing governs cell fate in the developing cerebral cortex X Zhang, MH Chen, X Wu, A Kodani, J Fan, R Doan, M Ozawa, J Ma, ... Cell 166 (5), 1147-1162. e15, 2016 | 341 | 2016 |
Mutations in human accelerated regions disrupt cognition and social behavior RN Doan, BI Bae, B Cubelos, C Chang, AA Hossain, S Al-Saad, ... Cell 167 (2), 341-354. e12, 2016 | 323 | 2016 |
Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex MB Johnson, PP Wang, KD Atabay, EA Murphy, RN Doan, JL Hecht, ... Nature neuroscience 18 (5), 637-646, 2015 | 302 | 2015 |
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 | 216 | 2019 |
Sodium channel SCN3A (NaV1. 3) regulation of human cerebral cortical folding and oral motor development RS Smith, CJ Kenny, V Ganesh, A Jang, R Borges-Monroy, JN Partlow, ... Neuron 99 (5), 905-913. e7, 2018 | 154 | 2018 |
Recessive gene disruptions in autism spectrum disorder RN Doan, ET Lim, S De Rubeis, C Betancur, DJ Cutler, AG Chiocchetti, ... Nature genetics 51 (7), 1092-1098, 2019 | 153 | 2019 |
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions KM Girskis, AB Stergachis, EM DeGennaro, RN Doan, X Qian, ... Neuron 109 (20), 3239-3251. e7, 2021 | 126 | 2021 |
Novel transcriptome assembly and improved annotation of the whiteleg shrimp (Litopenaeus vannamei), a dominant crustacean in global seafood mariculture N Ghaffari, A Sanchez-Flores, R Doan, KD Garcia-Orozco, PL Chen, ... Scientific reports 4 (1), 7081, 2014 | 113 | 2014 |
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing RE Rodin, Y Dou, M Kwon, MA Sherman, AM D’Gama, RN Doan, ... Nature neuroscience 24 (2), 176-185, 2021 | 105 | 2021 |
Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare R Doan, ND Cohen, J Sawyer, N Ghaffari, CD Johnson, SV Dindot BMC genomics 13, 1-12, 2012 | 95 | 2012 |
Landmarks of human embryonic development inscribed in somatic mutations S Bizzotto, Y Dou, J Ganz, RN Doan, M Kwon, CL Bohrson, SN Kim, ... Science 371 (6535), 1249-1253, 2021 | 89 | 2021 |
Toward a better definition of focal cortical dysplasia: an iterative histopathological and genetic agreement trial I Blümcke, R Coras, RM Busch, M Morita‐Sherman, D Lal, R Prayson, ... Epilepsia 62 (6), 1416-1428, 2021 | 78 | 2021 |
Identification of copy number variants in horses R Doan, N Cohen, J Harrington, K Veazy, R Juras, G Cothran, ME McCue, ... Genome research 22 (5), 899-907, 2012 | 74 | 2012 |
Accurate detection of mosaic variants in sequencing data without matched controls Y Dou, M Kwon, RE Rodin, I Cortés-Ciriano, R Doan, LJ Luquette, A Galor, ... Nature biotechnology 38 (3), 314-319, 2020 | 70 | 2020 |
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk FK Satterstrom, JA Kosmicki, J Wang, MS Breen, SD Rubeis, JY An, ... BioRxiv, 484113, 2018 | 51 | 2018 |
Comprehensive identification of somatic nucleotide variants in human brain tissue Y Wang, T Bae, J Thorpe, MA Sherman, AG Jones, S Cho, K Daily, Y Dou, ... Genome biology 22, 1-32, 2021 | 42 | 2021 |
Rates and patterns of clonal oncogenic mutations in the normal human brain J Ganz, EA Maury, B Becerra, S Bizzotto, RN Doan, CJ Kenny, T Shin, ... Cancer discovery 12 (1), 172-185, 2022 | 35 | 2022 |
Beliefs in vaccine as causes of autism among SPARK cohort caregivers E Fombonne, RP Goin-Kochel, BJ O'Roak, L Abbeduto, G Aberbach, ... Vaccine 38 (7), 1794-1803, 2020 | 31 | 2020 |
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy S Lakhani, R Doan, M Almureikhi, JN Partlow, M Al Saffar, MF Elsaid, ... European Journal of Medical Genetics 60 (5), 245-249, 2017 | 25 | 2017 |