| Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias AM D’Gama, MB Woodworth, AA Hossain, S Bizzotto, NE Hatem, ... Cell reports 21 (13), 3754-3766, 2017 | 326 | 2017 |
| Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human M Kielar, FPD Tuy, S Bizzotto, C Lebrand, C de Juan Romero, K Poirier, ... Nature neuroscience 17 (7), 923-933, 2014 | 137 | 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 | 112 | 2021 |
| 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 | 96 | 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 | 85 | 2021 |
| Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements LJ Luquette, MB Miller, Z Zhou, CL Bohrson, Y Zhao, H Jin, D Gulhan, ... Nature genetics 54 (10), 1564-1571, 2022 | 71* | 2022 |
| Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels, H Westley Phillips, ... Nature genetics 55 (2), 209-220, 2023 | 68 | 2023 |
| Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders S Bizzotto, CA Walsh Nature Reviews Neuroscience 23 (5), 275-286, 2022 | 64 | 2022 |
| Morphological and functional aspects of progenitors perturbed in cortical malformations S Bizzotto, F Francis Frontiers in cellular neuroscience 9, 30, 2015 | 63 | 2015 |
| Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy S Khoshkhoo, Y Wang, Y Chahine, EZ Erson-Omay, SM Robert, E Kiziltug, ... JAMA neurology 80 (6), 578-587, 2023 | 52 | 2023 |
| Somatic mosaicism reveals clonal distributions of neocortical development MW Breuss, X Yang, JCM Schlachetzki, D Antaki, AJ Lana, X Xu, ... Nature 604 (7907), 689-696, 2022 | 52* | 2022 |
| Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability T Bae, L Fasching, Y Wang, JH Shin, M Suvakov, Y Jang, S Norton, ... Science 377 (6605), 511-517, 2022 | 51 | 2022 |
| 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 | 44 | 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 | 39 | 2022 |
| Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex S Bizzotto, A Uzquiano, F Dingli, D Ershov, A Houllier, G Arras, ... Scientific reports 7 (1), 17308, 2017 | 37 | 2017 |
| Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia X Zhu, B Zhou, R Pattni, K Gleason, C Tan, A Kalinowski, S Sloan, ... Nature neuroscience 24 (2), 186-196, 2021 | 29 | 2021 |
| Control-independent mosaic single nucleotide variant detection with DeepMosaic X Yang, X Xu, MW Breuss, D Antaki, LL Ball, C Chung, J Shen, C Li, ... Nature biotechnology 41 (6), 870-877, 2023 | 26* | 2023 |
| Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions EA Maury, MA Sherman, G Genovese, TG Gilgenast, T Kamath, SJ Burris, ... Cell genomics 3 (8), 2023 | 24* | 2023 |
| MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations RN Doan, MB Miller, SN Kim, RE Rodin, J Ganz, S Bizzotto, KS Morillo, ... BMC Medical Genomics 14, 1-13, 2021 | 20 | 2021 |
| Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes J Ganz, LJ Luquette, S Bizzotto, MB Miller, Z Zhou, CL Bohrson, H Jin, ... Cell 187 (8), 1955-1970. e23, 2024 | 18* | 2024 |
