Publications

Publications from the Gorkin Lab, and from Dave prior to starting the lab.

2026

  1. SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity
    Garrett W. Cooper, Brian P. Lee, Woo Jae Kim, Yifan Su, Victor Z. Chen, and 16 more authors
    Nature Communications, Apr 2026
  2. BAF complexes maintain accessibility at stimulus-responsive chromatin and are required for transcriptional stimulus responses
    Alexander O. D. Gulka, Kihoon Alan Kang, Ziben Zhou, and David U. Gorkin
    bioRxiv, Mar 2026
    Preprint

2025

  1. Generation and characterization of a knockout mouse of an enhancer of EBF3
    Elizabeth Cordova Hurtado, Janine M. Wotton, Alexander Gulka, Chelsea Burke, Jenny K. Ng, and 8 more authors
    Biology Open, Nov 2025
  2. The spectrum of gene intolerance to variation: Insights from a rare disease cohort
    Pilar Cacheiro, Giovanni Marengo, David U. Gorkin, Kevin A. Peterson, Yonina Loskove, and 2 more authors
    medRxiv, Jan 2025
    Preprint
  3. Integrative analysis of the 3D genome and epigenome in mouse embryonic tissues
    Miao Yu, Nathan R. Zemke, Ziyin Chen, Ivan Juric, Rong Hu, and 15 more authors
    Nature Structural & Molecular Biology, Mar 2025

2024

  1. Removing unwanted variation between samples in Hi-C experiments
    Kipper Fletez-Brant, Yunjiang Qiu, David U. Gorkin, Ming Hu, and Kasper D. Hansen
    Briefings in Bioinformatics, Mar 2024

2023

  1. Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood
    Paola Benaglio, Jacklyn Newsome, Jee Yun Han, Joshua Chiou, Anthony Aylward, and 7 more authors
    PLoS Genetics, Jun 2023
  2. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
    Joel Rozowsky and others
    Cell, Mar 2023

2022

  1. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
    Anubha Mahajan and others
    Nature Genetics, May 2022
  2. Rapid changes in chromatin structure during dedifferentiation of primary hepatocytes in vitro
    Mark Seirup, Srirupa Sengupta, Scott Swanson, Brian E. McIntosh, Michael Collins, and 8 more authors
    Genomics, Mar 2022

2021

  1. An atlas of gene regulatory elements in adult mouse cerebrum
    Yang Eric Li, Sebastian Preissl, Xiaomeng Hou, Ziyang Zhang, Kai Zhang, and 23 more authors
    Nature, Oct 2021
  2. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
    Evin M. Padhi, Tristan J. Hayeck, Zhen Cheng, Sanjukta Chatterjee, Brandon J. Mannion, and 30 more authors
    Human Genomics, Jul 2021
  3. Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
    Joshua Chiou, Ryan J. Geusz, Mei-Lin Okino, Jee Yun Han, Michael Miller, and 11 more authors
    Nature, Jun 2021
  4. Single-cell chromatin accessibility identifies pancreatic islet cell type- and state-specific regulatory programs of diabetes risk
    Joshua Chiou, Chun Zeng, Zhen Cheng, Jee Yun Han, Michael Schlichting, and 15 more authors
    Nature Genetics, Apr 2021
  5. Promoter-proximal CTCF binding promotes distal enhancer-dependent gene activation
    Naoki Kubo, Haruhiko Ishii, Xiong Xiong, Simona Bianco, Franz Meitinger, and 11 more authors
    Nature Structural & Molecular Biology, Feb 2021

Before 2021

  1. Expanded encyclopaedias of DNA elements in the human and mouse genomes
    ENCODE Project Consortium, Jill E. Moore, Michael J. Purcaro, Henry E. Pratt, Charles B. Epstein, and 6 more authors
    Nature, Jul 2020
  2. Spatiotemporal DNA methylome dynamics of the developing mouse fetus
    Yupeng He, Manoj Hariharan, David U. Gorkin, Diane E. Dickel, Chongyuan Luo, and 15 more authors
    Nature, Jul 2020
  3. An atlas of dynamic chromatin landscapes in mouse fetal development
    David U. Gorkin, Iros Barozzi, Yuan Zhao, Yanxiao Zhang, Hui Huang, and 38 more authors
    Nature, Jul 2020
  1. Common DNA sequence variation influences 3-dimensional conformation of the human genome
    David U. Gorkin, Yunjiang Qiu, Ming Hu, Kipper Fletez-Brant, Tao Liu, and 8 more authors
    Genome Biology, Nov 2019
  2. Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk
    William W. Greenwald, Joshua Chiou, Jian Yan, Yunjiang Qiu, Nan Dai, and 17 more authors
    Nature Communications, May 2019
  3. Multi-platform discovery of haplotype-resolved structural variation in human genomes
    Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, and 6 more authors
    Nature Communications, Apr 2019
  1. N6-methyladenine DNA Modification in Glioblastoma
    Qi Xie, Tao P. Wu, Ryan C. Gimple, Zhen Li, Briana C. Prager, and 24 more authors
    Cell, Nov 2018
  2. Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation
    Sebastian Preissl, Rongxin Fang, Hui Huang, Yuan Zhao, Ramya Raviram, and 10 more authors
    Nature Neuroscience, Mar 2018
  1. Improved regulatory element prediction based on tissue-specific local epigenomic signatures
    Yupeng He, David U. Gorkin, Diane E. Dickel, Joseph R. Nery, Rosa G. Castanon, and 6 more authors
    Proceedings of the National Academy of Sciences, Feb 2017
  1. Genome-wide compendium and functional assessment of in vivo heart enhancers
    Diane E. Dickel, Iros Barozzi, Yiwen Zhu, Yoko Fukuda-Yuzawa, Marco Osterwalder, and 16 more authors
    Nature Communications, Oct 2016
  2. Chromatin Domains: The Unit of Chromosome Organization
    Jesse R. Dixon, David U. Gorkin, and Bing Ren
    Molecular Cell, Jun 2016
    Review
  1. CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function
    Ya Guo, Quan Xu, Daniele Canzio, Jia Shou, Jinhuan Li, and 14 more authors
    Cell, Aug 2015
  2. Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes
    Temesgen D. Fufa, Melissa L. Harris, Dawn E. Watkins-Chow, Dennis Levy, David U. Gorkin, and 9 more authors
    Human Molecular Genetics, Oct 2015
  3. A method to predict the impact of regulatory variants from DNA sequence
    Dongwon Lee, David U. Gorkin, Maggie Baker, Benjamin J. Strober, Alessandro L. Asoni, and 2 more authors
    Nature Genetics, Aug 2015
  1. The 3D genome in transcriptional regulation and pluripotency
    David U. Gorkin, Danny Leung, and Bing Ren
    Cell Stem Cell, Jun 2014
    Review
  2. Genetics: Closing the distance on obesity culprits
    David U. Gorkin and Bing Ren
    Nature, Mar 2014
    News & Views
  1. A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
    Christian Praetorius, Christine Grill, Simon N. Stacey, Alexander M. Metcalf, David U. Gorkin, and 28 more authors
    Cell, Nov 2013
  1. Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes
    David U. Gorkin, Dongwon Lee, Xylena Reed, Christopher Fletez-Brant, Seneca L. Bessling, and 4 more authors
    Genome Research, Nov 2012
  1. SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer
    Megana K. Prasad, Xylena Reed, David U. Gorkin, Julia C. Cronin, Anthony R. McAdow, and 9 more authors
    BMC Developmental Biology, Jun 2011
  1. Knock in of the AKT1 E17K mutation in human breast epithelial cells does not recapitulate oncogenic PIK3CA mutations
    Josh Lauring, David P. Cosgrove, Simona Fontana, John P. Gustin, Hiroyuki Konishi, and 12 more authors
    Oncogene, Apr 2010
  1. Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer
    Z. Elizabeth Stine, Jimmy L. Huynh, Stacie K. Loftus, David U. Gorkin, Amirali H. Salmasi, and 7 more authors
    Genesis, Nov 2009

                    Author corrections and errata are excluded by design. To flag a missing publication, please email Dr. Gorkin.