Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 469 | 2021 |
Characterizing the Major Structural Variant Alleles of the Human Genome PA Audano*, A Sulovari*, TA Graves-Lindsay, S Cantsilieris, M Sorensen, ... Cell 176 (3), 663-675. e19, 2019 | 433 | 2019 |
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity BP Coe, HAF Stessman, A Sulovari, MR Geisheker, TE Bakken, AM Lake, ... Nature genetics 51 (1), 106-116, 2019 | 281 | 2019 |
Segmental duplications and their variation in a complete human genome MR Vollger, X Guitart, PC Dishuck, L Mercuri, WT Harvey, A Gershman, ... Science 376 (6588), eabj6965, 2022 | 187 | 2022 |
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 152 | 2020 |
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads D Porubsky, P Ebert, PA Audano, MR Vollger, WT Harvey, P Marijon, ... Nature biotechnology 39 (3), 302-308, 2021 | 150 | 2021 |
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications AB Wilfert*, A Sulovari*, TN Turner, BP Coe, EE Eichler Genome medicine 9 (1), 101, 2017 | 140 | 2017 |
Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 136 | 2021 |
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads MR Vollger, GA Logsdon, PA Audano, A Sulovari, D Porubsky, P Peluso, ... Annals of human genetics 84 (2), 125-140, 2020 | 130 | 2020 |
Association of gamma-aminobutyric acid A receptor α2 gene (GABRA2) with alcohol use disorder D Li, A Sulovari, C Cheng, H Zhao, HR Kranzler, J Gelernter Neuropsychopharmacology 39 (4), 907-918, 2014 | 114 | 2014 |
Human-specific tandem repeat expansion and differential gene expression during primate evolution A Sulovari, R Li, PA Audano, D Porubsky, MR Vollger, GA Logsdon, ... Proceedings of the National Academy of Sciences 116 (46), 23243-23253, 2019 | 98 | 2019 |
Recent ultra-rare inherited variants implicate new autism candidate risk genes AB Wilfert, TN Turner, SC Murali, PH Hsieh, A Sulovari, T Wang, BP Coe, ... Nature genetics 53 (8), 1125-1134, 2021 | 96 | 2021 |
A high-quality bonobo genome refines the analysis of hominid evolution Y Mao, CR Catacchio, LDW Hillier, D Porubsky, R Li, A Sulovari, ... Nature 594 (7861), 77-81, 2021 | 55 | 2021 |
Evolution of a human-specific tandem repeat associated with ALS MM Course, K Gudsnuk, SN Smukowski, K Winston, N Desai, JP Ross, ... The American Journal of Human Genetics 107 (3), 445-460, 2020 | 51 | 2020 |
A virome-wide clonal integration analysis platform for discovering cancer viral etiology X Chen, J Kost, A Sulovari, N Wong, WS Liang, J Cao, D Li Genome research 29 (5), 819-830, 2019 | 51 | 2019 |
Recurrent inversion toggling and great ape genome evolution D Porubsky, AD Sanders, W Höps, PH Hsieh, A Sulovari, R Li, L Mercuri, ... Nature genetics 52 (8), 849-858, 2020 | 50 | 2020 |
Paradoxical roles of dual oxidases in cancer biology AC Little, A Sulovari, K Danyal, DE Heppner, DJ Seward, A van der Vliet Free Radical Biology and Medicine, 2017 | 48 | 2017 |
Familial long-read sequencing increases yield of de novo mutations MD Noyes, WT Harvey, D Porubsky, A Sulovari, R Li, NR Rose, ... The American Journal of Human Genetics 109 (4), 631-646, 2022 | 45 | 2022 |
An evolutionary driver of interspersed segmental duplications in primates S Cantsilieris, SM Sunkin, ME Johnson, F Anaclerio, J Huddleston, ... Genome biology 21, 1-35, 2020 | 23 | 2020 |
A fully phased accurate assembly of an individual human genome D Porubsky, P Ebert, PA Audano, MR Vollger, WT Harvey, KM Munson, ... bioRxiv, 855049, 2019 | 23 | 2019 |