Somatic mutation, genomic variation, and neurological disease A Poduri, GD Evrony, X Cai, CA Walsh Science 341 (6141), 2013 | 614 | 2013 |
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain GD Evrony, X Cai, E Lee, LB Hills, PC Elhosary, HS Lehmann, JJ Parker, ... Cell 151 (3), 483-496, 2012 | 593 | 2012 |
Somatic mutation in single human neurons tracks developmental and transcriptional history MA Lodato, MB Woodworth, S Lee, GD Evrony, BK Mehta, A Karger, ... Science 350 (6256), 94-98, 2015 | 576 | 2015 |
Somatic activation of AKT3 causes hemispheric developmental brain malformations A Poduri, GD Evrony, X Cai, PC Elhosary, R Beroukhim, MK Lehtinen, ... Neuron 74 (1), 41-48, 2012 | 488 | 2012 |
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain X Cai, GD Evrony, HS Lehmann, PC Elhosary, BK Mehta, A Poduri, ... Cell reports 8 (5), 1280-1289, 2014 | 323 | 2014 |
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain X Cai, GD Evrony, HS Lehmann, PC Elhosary, BK Mehta, A Poduri, ... Cell reports 8 (5), 1280-1289, 2014 | 323 | 2014 |
Cell lineage analysis in human brain using endogenous retroelements GD Evrony, E Lee, BK Mehta, Y Benjamini, RM Johnson, X Cai, L Yang, ... Neuron 85 (1), 49-59, 2015 | 250 | 2015 |
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning BI Bae, I Tietjen, KD Atabay, GD Evrony, MB Johnson, E Asare, PP Wang, ... Science 343 (6172), 764-768, 2014 | 205 | 2014 |
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation YJ Yang, AE Baltus, RS Mathew, EA Murphy, GD Evrony, DM Gonzalez, ... Cell 151 (5), 1097-1112, 2012 | 205 | 2012 |
Resolving rates of mutation in the brain using single-neuron genomics GD Evrony, E Lee, PJ Park, CA Walsh Elife 5, e12966, 2016 | 166 | 2016 |
Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons SA Townsend, GD Evrony, FX Gu, MP Schulz, RH Brown Jr, R Langer Biomaterials 28 (34), 5176-5184, 2007 | 135 | 2007 |
Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function CN Gruber, JJA Calis, S Buta, G Evrony, JC Martin, SA Uhl, R Caron, ... Immunity 53 (3), 672-684. e11, 2020 | 76 | 2020 |
Loss of PCLO function underlies pontocerebellar hypoplasia type III MY Ahmed, BA Chioza, A Rajab, K Schmitz-Abe, A Al-Khayat, S Al-Turki, ... Neurology 84 (17), 1745-1750, 2015 | 62 | 2015 |
Applications of Single-Cell DNA Sequencing GD Evrony, AG Hinch, C Luo Annual Review of Genomics and Human Genetics 22, 2021 | 60 | 2021 |
METTL23, a transcriptional partner of GABPA, is essential for human cognition RE Reiff, BR Ali, B Baron, TW Yu, S Ben-Salem, ME Coulter, CR Schubert, ... Human molecular genetics 23 (13), 3456-3466, 2014 | 47 | 2014 |
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome GD Evrony, DR Cordero, J Shen, JN Partlow, WY Timothy, RE Rodin, ... Genome research 27 (8), 1323-1335, 2017 | 44 | 2017 |
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients R Urreizti, K Mayer, GD Evrony, E Said, L Castilla-Vallmanya, NAL Cody, ... European Journal of Human Genetics 28 (1), 64-75, 2020 | 20 | 2020 |
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity JH Bae, R Liu, E Roberts, E Nguyen, S Tabrizi, J Rhoades, T Blewett, ... Nature Genetics 55 (5), 871-879, 2023 | 17 | 2023 |
One brain, many genomes GD Evrony Science 354 (6312), 557-558, 2016 | 15 | 2016 |
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome S Choufani, V McNiven, C Cytrynbaum, M Jangjoo, MP Adam, ... The American Journal of Human Genetics 109 (10), 1867-1884, 2022 | 14 | 2022 |