| De novo gene disruptions in children on the autistic spectrum I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker, J Rosenbaum, ... Neuron 74 (2), 285-299, 2012 | 1675 | 2012 |
| Strelka2: fast and accurate calling of germline and somatic variants S Kim, K Scheffler, AL Halpern, MA Bekritsky, E Noh, M Källberg, X Chen, ... Nature methods 15 (8), 591-594, 2018 | 1108 | 2018 |
| A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree MA Eberle, E Fritzilas, P Krusche, M Källberg, BL Moore, MA Bekritsky, ... Genome research 27 (1), 157-164, 2017 | 398 | 2017 |
| Detection of long repeat expansions from PCR-free whole-genome sequence data E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ... Genome research 27 (11), 1895-1903, 2017 | 336 | 2017 |
| Strelka2: fast and accurate variant calling for clinical sequencing applications S Kim, K Scheffler, AL Halpern, MA Bekritsky, E Noh, M Källberg, X Chen, ... Biorxiv, 192872, 2017 | 33 | 2017 |
| Target-variant-reference panel for imputing target variants D Andrews, MA Bekritsky, MA Eberle, JG Mayol US Patent App. 18/476,206, 2024 | | 2024 |
| Machine-learning model for generating confidence classifications for genomic coordinates MA Bekritsky, C Colombo, D Kashefhaghighi, R Paul, F Zanarello, ... US Patent App. 17/808,902, 2022 | | 2022 |
| Quantifying sequencing performance for clinical WGS TU Dincer, N Johnson, C Colombo, MA Bekritsky, MA Eberle, DR Bentley EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 677-678, 2020 | | 2020 |
| Graph methods for validating complex variants in pedigrees and large sample cohorts P Krusche, S Chen, E Dolzhenko, BL Moore, MA Bekritsky, A Gross, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 593-594, 2019 | | 2019 |
| C9orf72 Repeat Expansion Detection Using Short-Read Whole-Genome Sequencing Data MA Eberle, JF van Vugt, RJ Shaw, W van Rheenen, AM Dekker, ... JOURNAL OF MOLECULAR DIAGNOSTICS 17 (6), 797-798, 2015 | | 2015 |
| Detecting de novo microsatellite mutations in a population of families with sporadic autism M Bekritsky Cold Spring Harbor Laboratory, 2014 | | 2014 |
| A reference dataset of 5.4 million human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree MA Eberle, E Fritzilas, P Krusche, M Källberg, BL Moore, MA Bekritsky, ... | | |
| GENOMIC ANALYSIS OF CANCER AND HUMAN GENETIC DISORDERS MWJAM Bekritsky, IHJKB Ma, J Hicks | | |
