Boukas L[au] - Search Results

Year	Number of Results
2017	1
2018	1
2019	4
2020	2
2021	3
2022	1
2023	2

1

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.

2

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.

3

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.

4

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.

5

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.

Boukas L, Luperchio TR, Razi A, Hansen KD, Bjornsson HT. Boukas L, et al. bioRxiv. 2023 Aug 3:2023.08.01.551456. doi: 10.1101/2023.08.01.551456. Preprint. bioRxiv. 2023. PMID: 37577516 Free PMC article.

6

Novel 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. bioRxiv. 2023 Jun 30:2023.06.23.546270. doi: 10.1101/2023.06.23.546270. Preprint. bioRxiv. 2023. PMID: 37425751 Free PMC article.

7

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.

8

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.

9

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. Levy MA, et al. Among authors: boukas l. NPJ Genom Med. 2021 Nov 24;6(1):100. doi: 10.1038/s41525-021-00269-7. NPJ Genom Med. 2021. PMID: 34819528 Free PMC article. No abstract available.

10

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.

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