Genomic analyses implicate noncoding de novo variants in congenital heart disease F Richter, SU Morton, SW Kim, A Kitaygorodsky, LK Wasson, KM Chen, ... Nature genetics 52 (8), 769-777, 2020 | 115 | 2020 |
Dynamic and stable cohesins regulate synaptonemal complex assembly and chromosome segregation MR Gyuricza, KB Manheimer, V Apte, B Krishnan, EF Joyce, BD McKee, ... Current Biology 26 (13), 1688-1698, 2016 | 61 | 2016 |
Robust identification of mosaic variants in congenital heart disease KB Manheimer, F Richter, LJ Edelmann, SL D’Souza, L Shi, Y Shen, ... Human genetics 137, 183-193, 2018 | 48 | 2018 |
De novo damaging variants, clinical phenotypes, and post-operative outcomes in congenital heart disease MT Boskovski, J Homsy, M Nathan, LA Sleeper, S Morton, KB Manheimer, ... Circulation: Genomic and Precision Medicine 13 (4), e002836, 2020 | 44 | 2020 |
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease A Hsieh, SU Morton, JAL Willcox, JM Gorham, AC Tai, H Qi, S DePalma, ... Genome medicine 12, 1-18, 2020 | 24 | 2020 |
ORE identifies extreme expression effects enriched for rare variants F Richter, GE Hoffman, KB Manheimer, N Patel, AJ Sharp, D McKean, ... Bioinformatics 35 (20), 3906-3912, 2019 | 10 | 2019 |
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors KB Manheimer, N Patel, F Richter, J Gorham, AC Tai, J Homsy, ... Human mutation 39 (6), 870-881, 2018 | 8 | 2018 |
Early post-zygotic mutations contribute to congenital heart disease A Hsieh, SU Morton, JAL Willcox, JM Gorham, AC Tai, H Qi, S DePalma, ... BioRxiv, 733105, 2019 | 3 | 2019 |
Investigating the genetic architecture of congenital heart disease K Manheimer Icahn School of Medicine at Mount Sinai, 2018 | | 2018 |