| 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 | 575 | 2015 |
| Using whole-exome sequencing to identify inherited causes of autism WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ... Neuron 77 (2), 259-273, 2013 | 513 | 2013 |
| Somatic mutations in cerebral cortical malformations SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ... New England Journal of Medicine 371 (8), 733-743, 2014 | 361 | 2014 |
| Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia AM D'Gama, Y Geng, JA Couto, B Martin, EA Boyle, CM LaCoursiere, ... Annals of neurology 77 (4), 720-725, 2015 | 292 | 2015 |
| 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 | 284 | 2017 |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ... Nature neuroscience 20 (9), 1217-1224, 2017 | 265 | 2017 |
| Somatic mosaicism and neurodevelopmental disease AM D’Gama, CA Walsh Nature neuroscience 21 (11), 1504-1514, 2018 | 233 | 2018 |
| Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms AM D’Gama, S Pochareddy, M Li, SS Jamuar, RE Reiff, ATN Lam, ... Neuron 88 (5), 910-917, 2015 | 161 | 2015 |
| 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 | 88 | 2021 |
| Biallelic mutations in human DCC cause developmental split-brain syndrome SS Jamuar, K Schmitz-Abe, AM D'Gama, M Drottar, WM Chan, M Peeva, ... Nature genetics 49 (4), 606-612, 2017 | 75 | 2017 |
| Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies LH Rodan, M Hauptman, AM D'Gama, AE Qualls, S Cao, K Tuschl, ... Molecular genetics and metabolism 124 (2), 161-167, 2018 | 41 | 2018 |
| 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 | 32 | 2022 |
| Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency X Fan, B Xie, J Zou, J Luo, Z Qin, AM D'Gama, J Shi, S Yi, Q Yang, J Wang, ... Molecular genetics and metabolism reports 16, 15-19, 2018 | 27 | 2018 |
| Precision therapy for epilepsy related to brain malformations AM D'Gama, A Poduri Neurotherapeutics 18 (3), 1548-1563, 2021 | 23 | 2021 |
| Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations AE Qualls, S Donkervoort, JC Herkert, AM D'gama, D Bharucha‐Goebel, ... Muscle & nerve 59 (3), 357-362, 2019 | 19 | 2019 |
| Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort … AM D'Gama, S Mulhern, BR Sheidley, F Boodhoo, S Buts, NJ Chandler, ... The Lancet Neurology 22 (9), 812-825, 2023 | 18 | 2023 |
| Somatic mosaicism and neurological diseases SS Jamuar, AM D'Gama, CA Walsh Genomics, circuits, and pathways in clinical neuropsychiatry, 179-199, 2016 | 18 | 2016 |
| Somatic mosaicism and autism spectrum disorder AM D’Gama Genes 12 (11), 1699, 2021 | 17 | 2021 |
| Defining hand stereotypies in Rett syndrome: a movement disorders perspective ME Dy, JL Waugh, N Sharma, H O'Leary, K Kapur, AM D'Gama, M Sahin, ... Pediatric neurology 75, 91-95, 2017 | 17 | 2017 |
| Integrating rapid exome sequencing into NICU clinical care after a pilot research study AM D’Gama, MC Del Rosario, MA Bresnahan, TW Yu, MH Wojcik, ... NPJ genomic medicine 7 (1), 51, 2022 | 15 | 2022 |
