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Epigenetic characterization of pseudogenes across human tissues

Yunzhe Jiang
Beatrice Borsari
Mark Gerstein

First Published April 15, 2026

A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq

Sophia C. Gaynor-Gillett
Lijun Cheng
Manman Shi
Jason Liu
Gaoyuan Wang
Megan Spector Qiuyu Guo Le Qi Mary Flaherty Martha Wall Ahyeon Hwang Mengting Gu Zhanlin Chen Yuhang Chen Jennifer R. Moran Jing Zhang
... [+11 authors] ...,
Donghoon Lee
Mark Gerstein
Daniel Geschwind
Kevin P. White

First Published July 11, 2025

Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships" > Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships

Michelle Kudron
Louis Gevirtzman
Alec Victorsen
Bridget C. Lear
Jiahao Gao
Jinrui Xu Swapna Samanta Emily Frink Adri Tran-Pearson Chau Huynh Dionne Vafeados Ann Hammonds William Fisher Martha Wall Greg Wesseling Vanessa Hernandez Zhichun Lin Mary Kasparian Kevin White Ravi Allada Mark Gerstein
... [+16 authors] ...,
LaDeana Hillier
Susan E. Celniker
Valerie Reinke
Robert H. Waterston

First Published October 22, 2024

Alu/Alu-mediated rearrangements" > Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

Xiaofei Song
Christine R. Beck
Renqian Du
Ian M. Campbell
Zeynep Coban-Akdemir
Shen Gu Amy M. Breman
... [+2 authors] ...,
Pawel Stankiewicz
Grzegorz Ira
Chad A. Shaw
James R. Lupski

First Published June 15, 2018

Mus caroli and Mus pahari genomes" > Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

David Thybert
Maša Roller
Fábio C.P. Navarro
Ian Fiddes
Ian Streeter
Christine Feig David Martin-Galvez Mikhail Kolmogorov Václav Janoušek Wasiu Akanni Bronwen Aken Sarah Aldridge Varshith Chakrapani William Chow Laura Clarke Carla Cummins Anthony Doran Matthew Dunn Leo Goodstadt Kerstin Howe Matthew Howell Ambre-Aurore Josselin Robert C. Karn Christina M. Laukaitis Lilue Jingtao Fergal Martin Matthieu Muffato Stefanie Nachtweide Michael A. Quail Cristina Sisu Mario Stanke Klara Stefflova Cock Van Oosterhout Frederic Veyrunes Ben Ward Fengtang Yang Golbahar Yazdanifar Amonida Zadissa David J. Adams Alvis Brazma Mark Gerstein Benedict Paten
... [+37 authors] ...,
Son Pham
Thomas M. Keane
Duncan T. Odom
Paul Flicek

First Published March 21, 2018

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin

Alexej Abyzov
Livia Tomasini
Bo Zhou
Nikolaos Vasmatzis
Gianfilippo Coppola
Mariangela Amenduni Reenal Pattni Michael Wilson
... [+3 authors] ...,
Mark Gerstein
Sherman Weissman
Alexander E. Urban
Flora M. Vaccarino

First Published February 24, 2017

Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

Alexej Abyzov
Rebecca Iskow
Omer Gokcumen
David W. Radke
Suganthi Balasubramanian
Baikang Pei
Lukas Habegger
Charles Lee
Mark Gerstein

First Published September 11, 2013

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

Philip M. Boone
Ian M. Campbell
Brett C. Baggett
Zachry T. Soens
Mitchell M. Rao
Patricia M. Hixson Ankita Patel Weimin Bi Sau Wai Cheung Seema R. Lalani
... [+5 authors] ...,
Arthur L. Beaudet
Pawel Stankiewicz
Chad A. Shaw
James R. Lupski

First Published May 16, 2013

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Piotr Dittwald
Tomasz Gambin
Przemyslaw Szafranski
Jian Li
Stephen Amato
Michael Y. Divon Lisa Ximena Rodríguez Rojas Lindsay E. Elton Daryl A. Scott Christian P. Schaaf Wilfredo Torres-Martinez Abby K. Stevens Jill A. Rosenfeld Satish Agadi David Francis Sung-Hae L. Kang Amy Breman Seema R. Lalani Carlos A. Bacino Weimin Bi Aleksandar Milosavljevic Arthur L. Beaudet Ankita Patel Chad A. Shaw
... [+19 authors] ...,
James R. Lupski
Anna Gambin
Sau Wai Cheung
Pawel Stankiewicz

First Published May 8, 2013

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

Stephen B. Montgomery
David L. Goode
Erika Kvikstad
Cornelis A. Albers
Zhengdong D. Zhang
Xinmeng Jasmine Mu Guruprasad Ananda Bryan Howie Konrad J. Karczewski Kevin S. Smith Vanessa Anaya Rhea Richardson Joe Davis Daniel G. MacArthur Arend Sidow Laurent Duret Mark Gerstein
... [+12 authors] ...,
Kateryna D. Makova
Jonathan Marchini
Gil McVean
Gerton Lunter

First Published March 11, 2013

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