Boukas L - Search Results

1

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.

Carosso GA, Boukas L, Augustin JJ, Nguyen HN, Winer BL, Cannon GH, Robertson JD, Zhang L, Hansen KD, Goff LA, Bjornsson HT. Carosso GA, et al. Among authors: boukas l. JCI Insight. 2019 Oct 17;4(20):e129375. doi: 10.1172/jci.insight.129375. JCI Insight. 2019. PMID: 31465303 Free PMC article.

2

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT. Pilarowski GO, et al. Among authors: boukas l. J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2. J Med Genet. 2018. PMID: 28866611 Free PMC article.

3

Coexpression patterns define epigenetic regulators associated with neurological dysfunction.

Boukas L, Havrilla JM, Hickey PF, Quinlan AR, Bjornsson HT, Hansen KD. Boukas L, et al. Genome Res. 2019 Apr;29(4):532-542. doi: 10.1101/gr.239442.118. Epub 2019 Mar 11. Genome Res. 2019. PMID: 30858344 Free PMC article.

4

A screen of 1,049 schizophrenia and 30 Alzheimer's-associated variants for regulatory potential.

Myint L, Wang R, Boukas L, Hansen KD, Goff LA, Avramopoulos D. Myint L, et al. Among authors: boukas l. Am J Med Genet B Neuropsychiatr Genet. 2020 Jan;183(1):61-73. doi: 10.1002/ajmg.b.32761. Epub 2019 Sep 10. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31503409 Free PMC article.

5

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.

Fahrner JA, Lin WY, Riddle RC, Boukas L, DeLeon VB, Chopra S, Lad SE, Luperchio TR, Hansen KD, Bjornsson HT. Fahrner JA, et al. Among authors: boukas l. JCI Insight. 2019 Oct 17;4(20):e129380. doi: 10.1172/jci.insight.129380. JCI Insight. 2019. PMID: 31557133 Free PMC article.

6

Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.

Boukas L, Bjornsson HT, Hansen KD. Boukas L, et al. Am J Hum Genet. 2020 Sep 3;107(3):487-498. doi: 10.1016/j.ajhg.2020.07.014. Epub 2020 Aug 14. Am J Hum Genet. 2020. PMID: 32800095 Free PMC article.

7

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.

Luperchio TR, Boukas L, Zhang L, Pilarowski G, Jiang J, Kalinousky A, Hansen KD, Bjornsson HT. Luperchio TR, et al. Among authors: boukas l. Elife. 2021 Aug 31;10:e65884. doi: 10.7554/eLife.65884. Elife. 2021. PMID: 34463256 Free PMC article.

8

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.

Reynisdottir T, Anderson KJ, Boukas L, Bjornsson HT. Reynisdottir T, et al. Among authors: boukas l. PLoS Genet. 2022 Jun 21;18(6):e1010278. doi: 10.1371/journal.pgen.1010278. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35727845 Free PMC article.

9

Pumping the brakes on RNA velocity by understanding and interpreting RNA velocity estimates.

Zheng SC, Stein-O'Brien G, Boukas L, Goff LA, Hansen KD. Zheng SC, et al. Among authors: boukas l. Genome Biol. 2023 Oct 26;24(1):246. doi: 10.1186/s13059-023-03065-x. Genome Biol. 2023. PMID: 37885016 Free PMC article.

10

A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.

Gao CW, Lin W, Riddle RC, Kushwaha P, Boukas L, Björnsson HT, Hansen KD, Fahrner JA. Gao CW, et al. Among authors: boukas l. JCI Insight. 2024 Jan 9;9(1):e173392. doi: 10.1172/jci.insight.173392. JCI Insight. 2024. PMID: 38015625 Free PMC article.

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