| Aging and neurodegeneration are associated with increased mutations in single human neurons MA Lodato, RE Rodin, CL Bohrson, ME Coulter, AR Barton, M Kwon, ... Science 359 (6375), 555-559, 2018 | 566 | 2018 |
| Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses AR Barton, MA Sherman, RE Mukamel, PR Loh Nature genetics 53 (8), 1260-1269, 2021 | 133 | 2021 |
| Protein-coding repeat polymorphisms strongly shape diverse human phenotypes RE Mukamel, RE Handsaker, MA Sherman, AR Barton, Y Zheng, ... Science 373 (6562), 1499-1505, 2021 | 127 | 2021 |
| Linked-read analysis identifies mutations in single-cell DNA-sequencing data CL Bohrson, AR Barton, MA Lodato, RE Rodin, LJ Luquette, ... Nature genetics 51 (4), 749-754, 2019 | 88 | 2019 |
| 52 additional reference population samples for the 55 AISNP panel AJ Pakstis, E Haigh, L Cherni, ABA ElGaaied, A Barton, B Evsanaa, ... Forensic Science International: Genetics 19, 269-271, 2015 | 47 | 2015 |
| Large mosaic copy number variations confer autism risk MA Sherman, RE Rodin, G Genovese, C Dias, AR Barton, RE Mukamel, ... Nature neuroscience 24 (2), 197-203, 2021 | 43 | 2021 |
| Genetic variation in Tunisia in the context of human diversity worldwide L Cherni, AJ Pakstis, S Boussetta, S Elkamel, S Frigi, H Khodjet‐El‐Khil, ... American journal of physical anthropology 161 (1), 62-71, 2016 | 42 | 2016 |
| A spectrum of recessiveness among Mendelian disease variants in UK Biobank AR Barton, MLA Hujoel, RE Mukamel, MA Sherman, PR Loh The American Journal of Human Genetics 109 (7), 1298-1307, 2022 | 28 | 2022 |
| Influences of rare copy-number variation on human complex traits MLA Hujoel, MA Sherman, AR Barton, RE Mukamel, VG Sankaran, ... Cell 185 (22), 4233-4248. e27, 2022 | 26 | 2022 |
| PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation MA Sherman, AR Barton, MA Lodato, C Vitzthum, ME Coulter, CA Walsh, ... Nucleic acids research 46 (4), e20-e20, 2018 | 14 | 2018 |
| Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer RE Mukamel, RE Handsaker, MA Sherman, AR Barton, MLA Hujoel, ... Cell 186 (17), 3659-3673. e23, 2023 | 13 | 2023 |
| Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex SN Kim, VV Viswanadham, RN Doan, Y Dou, S Bizzotto, S Khoshkhoo, ... bioRxiv, 2023 | 5 | 2023 |
| Insufficient evidence for natural selection associated with the Black Death AR Barton, CG Santander, P Skoglund, I Moltke, D Reich, I Mathieson bioRxiv, 2023 | 4 | 2023 |
| Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection MJ Zhang, A Durvasula, C Chiang, EM Koch, BJ Strober, H Shi, ... Research Square, 2023 | 3 | 2023 |
| Protein-altering variants at copy number-variable regions influence diverse human phenotypes MLA Hujoel, RE Handsaker, MA Sherman, N Kamitaki, AR Barton, ... Nature Genetics 56 (4), 569-578, 2024 | 2 | 2024 |
| Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer RE Mukamel, RE Handsaker, MA Sherman, AR Barton, MLA Hujoel, ... medRxiv, 2022.10. 11.22280955, 2022 | 2 | 2022 |
| Hidden protein-altering variants influence diverse human phenotypes MLA Hujoel, RE Handsaker, MA Sherman, N Kamitaki, AR Barton, ... bioRxiv, 2023 | 1 | 2023 |
| Compositions and methods for identifying a single-nucleotide variant MA Lodato, CL Bohrson, ME Coulter, PJ Park, CA Walsh, RE Rodin, ... US Patent App. 16/984,885, 2021 | 1 | 2021 |
| Investigating the contribution of rare coding variants to human complex traits AR Barton Harvard University, 2022 | | 2022 |
