| Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability GO Pilarowski, HJ Vernon, CD Applegate, L Boukas, MT Cho, CA Gurnett, ... Journal of medical genetics 55 (8), 561-566, 2018 | 56 | 2018 |
| Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome GA Carosso, L Boukas, JJ Augustin, HN Nguyen, BL Winer, GH Cannon, ... JCI insight 4 (20), 2019 | 46 | 2019 |
| Coexpression patterns define epigenetic regulators associated with neurological dysfunction L Boukas, JM Havrilla, PF Hickey, AR Quinlan, HT Bjornsson, KD Hansen Genome Research 29 (4), 532-542, 2019 | 43 | 2019 |
| A screen of 1,049 schizophrenia and 30 Alzheimer's‐associated variants for regulatory potential L Myint, R Wang, L Boukas, KD Hansen, LA Goff, D Avramopoulos American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 183 …, 2020 | 35 | 2020 |
| Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice JA Fahrner, WY Lin, RC Riddle, L Boukas, VB DeLeon, S Chopra, SE Lad, ... JCI insight 4 (20), 2019 | 29 | 2019 |
| Pumping the brakes on RNA velocity by understanding and interpreting RNA velocity estimates SC Zheng, G Stein-O’Brien, L Boukas, LA Goff, KD Hansen Genome biology 24 (1), 246, 2023 | 16 | 2023 |
| Promoter CpG density predicts downstream gene loss-of-function intolerance L Boukas, HT Bjornsson, KD Hansen The American Journal of Human Genetics 107 (3), 487-498, 2020 | 16 | 2020 |
| Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood MA Levy, DB Beck, K Metcalfe, S Douzgou, S Sithambaram, T Cottrell, ... NPJ Genomic Medicine 6 (1), 92, 2021 | 15 | 2021 |
| Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation TR Luperchio, L Boukas, L Zhang, G Pilarowski, J Jiang, A Kalinousky, ... Elife 10, e65884, 2021 | 11 | 2021 |
| Natural selection acts on epigenetic marks L Boukas, A Razi, HT Bjornsson, KD Hansen | 6* | 2020 |
| Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 T Reynisdottir, KJ Anderson, L Boukas, HT Bjornsson PLoS genetics 18 (6), e1010278, 2022 | 3 | 2022 |
| A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition CW Gao, WY Lin, RC Riddle, P Kushwaha, L Boukas, HT Björnsson, ... JCI insight 9 (1), 2024 | 1 | 2024 |
| KMT2D Regulates thymic Egress by Modulating Maturation and integrin Expression SJ Potter, L Zhang, M Kotliar, Y Wu, C Schafer, K Stefan, L Boukas, ... bioRxiv, 2022.10. 04.510662, 2022 | 1 | 2022 |
| Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice L Boukas, TR Luperchio, A Razi, KD Hansen, HT Bjornsson bioRxiv, 2023 | | 2023 |
| KMT2D regulates activation, localization, and integrin expression by T cells SJ Potter, L Zhang, M Kotliar, Y Wu, C Schafer, K Stefan, L Boukas, ... Frontiers in Immunology 15, 1341745, 2023 | | 2023 |
| Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1 CW Gao, WY Lin, RC Riddle, S Chopra, L Boukas, KD Hansen, ... bioRxiv, 2023.10. 15.562327, 2023 | | 2023 |
| Leveraging large-scale datasets to understand the interaction between the genome and the epigenome L Boukas Johns Hopkins University, 2020 | | 2020 |
