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Current pre-prints:

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variatio. Teresa R. Luperchio, Leandros Boukas, Li Zhang, Genay O. Pilarowski, Jenny Jiang, Allison Kalinousky, Kasper D. Hansen, Hans T. Bjornsson. bioRxiv 2020.11.08.373456; doi:

Purifying selection acts on germline methylation to modify the CpG mutation rate at promoters. Leandros Boukas, Hans T. Bjornsson, Kasper D. Hansen. bioRxiv 2020.07.04.187880; doi:


Published articles:

Kabuki syndrome

Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, ... Banka S. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. PMID: 33674768; PMCID: PMC8257478.

Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome. Li Zhang, Genay Pilarowski, ..., Hans Tomas Bjornsson.  Mol Ther Methods Clin Dev. 2021 Feb 18;20:779-791. doi: 10.1016/j.omtm.2021.02.011. PMID: 33738331; PMCID: PMC7940709. 

Theodore-Oklota C, Egan S, Paulich M, ...Bjornsson HT. Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. Am J Med Genet A. 2020;182(7):1592-1600. doi:10.1002/ajmg.a.61584

Pilarowski GO, Cazares T, Zhang L, Benjamin JS, Liu K, Jagannathan S, Mousa N, Kasten J, Barski A, Lindsley AW, Bjornsson HT. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome. J Allergy Clin Immunol. 2020 Mar;145(3):982-992. doi: 10.1016/j.jaci.2019.11.034.

Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med. 2020 Feb;8(2):e1072. doi: 10.1002/mgg3.1072.

Fahrner JA, Lin WY, Riddle RC, Boukas L, DeLeon VB, Chopra S, Lad SE, Luperchio TR, Hansen KD, Bjornsson HT. Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki Syndrome mice. JCI Insight. 2019 Sep 26.


Carosso GA, Boukas L, Augustin JJ, Nguyen HN, Winer BL, Cannon GH, Robertson JD, Zhang L, Hansen KD, Goff LA, Bjornsson HT. Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome. JCI Insight. 2019 Aug 29.

Harris J, Mahone EM, Bjornsson HT. Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities. J Intellect Disabil Res. 2019 Feb 14. doi: 10.1111/jir.12596.


Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. PubMed PMID: 30514738.


Benjamin JS et al. A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome. Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):125-130. doi: 10.1073/pnas.1611431114.

Bjornsson HT et al. Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. Sci Transl Med. 2014 Oct 1;6(256):256ra135.


Wiedemann-Steiner syndrome

Sheppard SE, ... Bjornsson HT, ... Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. PMID: 33783954.


Mendelian disorders of the epigenetic machinery

Boukas L, Havrilla JM, Hickey PF, Quinlan AR, Bjornsson HT, Hansen KD. Coexpression patterns define epigenetic regulators associated with neurological dysfunction. Genome Res. 2019 Mar 11. doi: 10.1101/gr.239442.118.

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet. 2019 Nov 21;28(R2):R254-R264. doi: 10.1093/hmg/ddz174.

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet. 2019.


Pilarowski-Bjornsson syndrome

Pilarowski GO et al. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. J Med Genet. 2017 Sep 2. pii: jmedgenet-2017-104759.


DNA methylation

Bjornsson HT et al. Intra-individual change over time in DNA methylation with familial clustering. JAMA. 2008 Jun 25;299(24):2877-83.

Boukas L et al. Promoter CpG density predicts downstream gene loss-of-function intolerance. AJHG, 2020

Sobreira N et al. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Eur J Hum Genet. 2017 Dec;25(12):1335-1344.


Clinical use of exome sequencing

Bowdin S, et al. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 Nov;18(11):1075-1084


Lee-Barber J, et al. Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. JIMD Rep. 2018 Jun 20.