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PUBLICATIONS

Key Publications

* equal contribution. † corresponding author. For the full list of publications, please see Google Scholar

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Rapid and Quantitative Functional Interrogation of Human Enhancer Variant Activity in Live Mice
Hollingsworth EW, Liu TA, Jacinto SH, Chen CX, Alcantara JA, Kvon EZ†.
bioRxiv (2023) PDF

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Increased Enhancer-Promoter Interactions during Developmental Enhancer Activation in Mammals
Chen Z, Snetkova V, Bower G, Jacinto S, Clock BDizehchi A, Barozzi I, Mannion BJ, Alcaina-Caro A, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA, Kvon EZ†.
Nature Genetics (2024) PMID38509385 PDF DATA

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A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation
Yanchus C, Drucker KL, Kollmeyer TM, Tsai R, Winick-Ng W, Liang M, Malik A, Pawling J, De Lorenzo SB, Ali A, Decker PA, Kosel ML, Panda A, Al-Zahrani KN, Jiang L, Browning JWL, Lowden C, Geuenich M, Hernandez JJ, Gosio JT, Ahmed M, Loganathan SK, Berman J, Trcka D, Michealraj KA, Fortin J, Carson B, Hollingsworth EW, Jacinto S, Mazrooei P, Zhou L, Elia A, Lupien M, He HH, Murphy DJ, Wang L, Abyzov A, Dennis JW, Maass PG, Campbell K, Wilson MD, Lachance DH, Wrensch M, Wiencke J, Mak T, Pennacchio LA, Dickel DE, Visel A, Wrana J, Taylor MD, Zadeh G, Dirks P, Eckel-Passow JE, Attisano L, Pombo A, Ida CM, Kvon EZ, Jenkins RB, Schramek D.
Science (2022) PMID36201590 PDF

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Enhancer redundancy in development and disease
Kvon EZ*†, Waymack R, Elabd MG, Wunderlich Z*†
Nature Reviews Genetics (2021) PMID33442000 PDF

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Comprehensive in vivo interrogation reveals phenotypic impact of human enhancer variants
Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington A, Hunter R, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. 
Cell (2020) PMID32169219 PDF

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Progressive loss of function in a limb enhancer during snake evolution
Kvon EZ, Kamneva OK, Melo US, Barozzi I, Osterwalder M, Mannion BJ, Tissières V, Pickle CS, Plajzer-Frick I, Lee EA, Kato M, Garvin TH, Akiyama JA, Afzal V, Lopez-Rios J, Rubin EM, Dickel DE, Pennacchio LA, Visel A
Cell (2016) PMID27768887 PDF

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Genome-scale functional characterization of Drosophila developmental enhancers in vivo
Kvon EZ, Kazmar T, Stampfel G, Yanez-Cuna JO, Pagani M, Schernhuber K, Dickson BJ, Stark A
Nature (2014) PMID24896182 PDF

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Using transgenic reporter assays to functionally characterize enhancers in animals
Kvon EZ†
Genomics (2015) PMID26072435 PDF

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Deciphering the transcriptional cis-regulatory code
Yanez-Cuna JO*, Kvon EZ*, Stark A
Trends in Genetics (2013) PMID23102583 PDF

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HOT regions function as patterned developmental enhancers and have a distinct cis-regulatory signature
Kvon EZ*, Stampfel G.*, Yáñez-Cuna JO, Dickson, BJ, Stark, A
Genes & Development (2012) PMID22499593 PDF

Other Publications

Characterization of Mammalian In Vivo Enhancers Using Mouse Transgenesis and CRISPR Genome Editing
Osterwalder M, Tran S, Hunter RD, Meky EM, von Maydell K, Harrington AN, Godoy J, Novak CS, Plajzer-Frick I, Zhu Y, Akiyama JA, Afzal V, Kvon EZ, Pennacchio LA, Dickel DE, Visel A
Methods in Molecular Biology (2022) PMID34913122 PDF

Ultraconserved enhancer function does not require perfect sequence conservation
Snetkova V, Ypsilanti AR, Akiyama JA, Mannion BJ, Plajzer-Frick I, Novak CS, Harrington AN, Pham QT, Kato M, Zhu Y, Godoy J, Meky E, Hunter RD, Shi M, Kvon EZ, Afzal V, Tran S, Rubenstein JLR, Visel A, Pennacchio LA, Dickel DE
Nature Genetics (2021) PMID33782603 PDF

Presynaptic homeostasis opposes disease progression in mouse models of ALS-like degeneration: evidence for homeostatic neuroprotection
Orr BO, Hauswirth AG, Celona B, Fetter RD, Zunino G, Kvon EZ, Zhu Y, Pennacchio LA, Black BL, Davis GW
Neuron (2020) PMID32380032 PDF

Stable enhancers are active in development, and fragile enhancers are associated with evolutionary adaptation
Li S, Kvon EZ, Visel A, Pennacchio LA, Ovcharenko I
Genome Biology (2019) PMID31307522 PDF

An evolutionary conserved epigenetic mark of polycomb response elements implemented by Trx/MLL/COMPASS
Rickels R, Hu D, Collings CK, Woodfin AR, Piunti A, Mohan M, Herz H-M, Kvon EZ, Shilatifard A
Molecular Cell (2016) PMID27447986 PDF

Drosophila embryo stage annotation using label propagation
Kazmar T, Kvon EZ, Stark A, Lampert CH
Proceedings of the IEEE International Conference on Computer Vision (2013) PDF

Uncovering cis-regulatory sequence requirements for context-specific transcription factor binding
Yáñez-Cuna JO, Dinh HQ*, Kvon EZ*, Shlyueva D*, Stark A.
Genome Research (2012) PMID22534400 PDF

Gene density profile reveals the marking of late replicated domains in the Drosophila melanogaster genome
Belyakin SN, Babenko VN, Maksimov DA, Shloma VV, Kvon EZ, Belyaeva ES, Zhimulev IF
Chromosoma (2010) PMID20602235 PDF

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Emx2 underlies the development and evolution of marsupial gliding membranes
Moreno JA, Dudchenko O, YF Charles, Mereby SA, Chen Z, Ramos R, Almet AA, Sen H, Brack BJ, Johnson MR, Li S, Wang W, Gaska JM, Ploss A, Weisz D, Omer AD, Yao W, Colaric Z, Kaur P, Leger JS, Nie Q, Mena A, Flanagan JP, Keller G, Sanger T, Ostrow B, Plikus MV, Kvon EZ, Aiden EL† & Mallarino R†.
Nature (2024) PDF

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