Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 579 | 2018 |
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 432 | 2022 |
Genome-wide somatic variant calling using localized colored de Bruijn graphs G Narzisi, A Corvelo, K Arora, EA Bergmann, M Shah, R Musunuri, ... Communications biology 1 (1), 20, 2018 | 102 | 2018 |
Molecular diversity and gene evolution of the venom arsenal of terebridae predatory marine snails J Gorson, G Ramrattan, A Verdes, EM Wright, Y Kantor, ... Genome Biology and Evolution 7 (6), 1761-1778, 2015 | 45 | 2015 |
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism EM Padhi, TJ Hayeck, Z Cheng, S Chatterjee, BJ Mannion, ... Human genomics 15, 1-15, 2021 | 20 | 2021 |
A strategy for building and using a human reference pangenome B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ... F1000Research 8, 2019 | 15 | 2019 |
Characterization and Recombinant Expression of Terebrid Venom Peptide from Terebra guttata J Moon, J Gorson, ME Wright, L Yee, S Khawaja, HY Shin, Y Karma, ... Toxins 8 (3), 63, 2016 | 10 | 2016 |
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... medRxiv, 2024.03. 05.24303792, 2024 | 5 | 2024 |
Lancet: genome-wide somatic variant calling using localized colored DeBruijn graphs G Narzisi, A Corvelo, K Arora, EA Bergmann, M Shah, R Musunuri, ... bioRxiv, 196311, 2017 | 4 | 2017 |
De Novo Mutation in an Enhancer of EBF3 in simplex autism EM Padhi, TJ Hayeck, B Mannion, S Chatterjee, M Byrska-Bishop, ... bioRxiv, 2020.08. 28.270751, 2020 | 2 | 2020 |
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring DC Pinto, IC Delgado, H Yang, A Clemenceau, A Corvelo, G Narzisi, ... bioRxiv, 2023 | 1 | 2023 |
Somatic variant analysis of linked-reads sequencing data with Lancet R Musunuri, K Arora, A Corvelo, M Shah, J Shelton, MC Zody, G Narzisi Bioinformatics 37 (13), 1918-1919, 2021 | 1 | 2021 |
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring D Correa Pinto Junior, I Canal Delgado, H Yang, A Clemenceau, ... EMBO reports 25 (2), 593-615, 2024 | | 2024 |
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring D Correa Pinto Jr, I Canal Delgado, H Yang, A Clemenceau, A Corvelo, ... bioRxiv, 2023.08. 11.552969, 2023 | | 2023 |
A strategy for building and using a human referenc e pangenome [version 1; peer review: 1 approved, 1 approved B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ... | | |
A strategy for building and using a human reference pangenome [version 1; peer review: awaiting peer review] B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ... | | |