Intra-individual change over time in DNA methylation with familial clustering HT Bjornsson, MI Sigurdsson, MD Fallin, RA Irizarry, T Aspelund, H Cui, ... Jama 299 (24), 2877-2883, 2008 | 824 | 2008 |
An integrated epigenetic and genetic approach to common human disease HT Bjornsson, MD Fallin, AP Feinberg TRENDS in Genetics 20 (8), 350-358, 2004 | 541 | 2004 |
Kabuki syndrome: international consensus diagnostic criteria MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ... Journal of medical genetics 56 (2), 89-95, 2019 | 195 | 2019 |
The Mendelian disorders of the epigenetic machinery. H Bjornsson Genome Research 25 (10), 1473-81, 2015 | 178 | 2015 |
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome HT Bjornsson, JS Benjamin, L Zhang, J Weissman, EE Gerber, YC Chen, ... Science translational medicine 6 (256), 256ra135-256ra135, 2014 | 174 | 2014 |
Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states JA Fahrner, HT Bjornsson Annual review of genomics and human genetics 15, 269-293, 2014 | 156 | 2014 |
Recommendations for the integration of genomics into clinical practice S Bowdin, A Gilbert, E Bedoukian, C Carew, MP Adam, J Belmont, ... Genetics in Medicine 18 (11), 1075-1084, 2016 | 151 | 2016 |
Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors HT Bjornsson, LJ Brown, MD Fallin, MA Rongione, M Bibikova, ... Journal of the National Cancer Institute 99 (16), 1270-1273, 2007 | 129 | 2007 |
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome JS Benjamin, GO Pilarowski, GA Carosso, L Zhang, DL Huso, LA Goff, ... Proceedings of the National Academy of Sciences 114 (1), 125-130, 2017 | 117 | 2017 |
Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects JA Fahrner, HT Bjornsson Human Molecular Genetics 28 (R2), R254-R264, 2019 | 110 | 2019 |
SNP-specific array-based allele-specific expression analysis HT Bjornsson, TJ Albert, CM Ladd-Acosta, RD Green, MA Rongione, ... Genome research 18 (5), 771-779, 2008 | 92 | 2008 |
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination MI Sigurdsson, AV Smith, HT Bjornsson, JJ Jonsson Genome research 19 (4), 581-589, 2009 | 79 | 2009 |
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features V Okur, MT Cho, L Henderson, K Retterer, M Schneider, S Sattler, ... Human genetics 135, 699-705, 2016 | 68 | 2016 |
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities N Sobreira, M Brucato, L Zhang, C Ladd-Acosta, C Ongaco, J Romm, ... European Journal of Human Genetics 25 (12), 1335-1344, 2017 | 60 | 2017 |
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 | 57 | 2018 |
Universal prediction of cell-cycle position using transfer learning SC Zheng, G Stein-O’Brien, JJ Augustin, J Slosberg, GA Carosso, B Winer, ... Genome biology 23 (1), 41, 2022 | 53 | 2022 |
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 | 44 | 2019 |
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 | 43 | 2019 |
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 42 | 2021 |
Overlapping euchromatin/heterochromatin-associated marks are enriched in imprinted gene regions and predict allele-specific modification B Wen, H Wu, H Bjornsson, RD Green, R Irizarry, AP Feinberg Genome research 18 (11), 1806-1813, 2008 | 42 | 2008 |