top of page

PUBLICATIONS

Featured publications

Zic14_website.png

Widespread Increase in Enhancer-Promoter Interactions during Developmental Enhancer Activation in Mammals
Chen Z, Snetkova V, Bower G, Jacinto S, Clock B, Barozzi I, Mannion BJ, Alcaina-Caro A, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA, Kvon EZ†.
bioRxiv (2022) PDF

Screen Shot 2022-10-13 at 21.17.44.png

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

Screen Shot 2020-12-09 at 10.04.52 AM.png


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

F6-proband-right-hand-Xray_edited.jpg

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

cover_AV08.jpg

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

MetaSys_Small.png

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

Enhancer-reporter-01.jpg


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

Billiboard model.jpg


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

Blimp-1_locus.jpg

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

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

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

bottom of page