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Research

Single-cell template strand sequencing reveals culture-induced chromosomal instability in a gibbon cell line

  • Alessia Daponte
  • Gerardina Chirico
  • Annalisa Paparella
  • Annalaura Montanari
  • Caterina Manzari
  • Martina Macino Oliver Dionisi Dyck Francesco De Leonardis Flavia Angela Maria Maggiolini Alberto L'Abbate Francesco Montinaro Sandra Louzada
  • ... [+7 authors] ...,
  • Mario Ventura
  • Ashley D. Sanders
  • Francesca Antonacci
  • Claudia Rita Catacchio
  • First Published May 4, 2026
Research

CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain" > Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

  • James L. Shepherdson
  • David M. Granas
  • Jie Li
  • Zara Shariff
  • Stephen P. Plassmeyer
  • Alex S. Holehouse
  • Michael A. White
  • Barak A. Cohen
  • First Published September 25, 2024
Research

CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors" > Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

  • James L. Shepherdson
  • Ryan Z. Friedman
  • Yiqiao Zheng
  • Chi Sun
  • Inez Y. Oh
  • David M. Granas
  • Barak A. Cohen
  • Shiming Chen
  • Michael A. White
  • First Published February 14, 2024
Research

Functional characterization of enhancer activity during a long terminal repeat's evolution

  • Alan Y. Du
  • Xiaoyu Zhuo
  • Vasavi Sundaram
  • Nicholas O. Jensen
  • Hemangi G. Chaudhari
  • Nancy L. Saccone
  • Barak A. Cohen
  • Ting Wang
  • First Published October 3, 2022
Resource

A high-resolution map of small-scale inversions in the gibbon genome

  • Ludovica Mercuri
  • Donato Palmisano
  • Alberto L'Abbate
  • Pietro D'Addabbo
  • Francesco Montinaro
  • Claudia Rita Catacchio Patrick Hasenfeld Mario Ventura
  • ... [+3 authors] ...,
  • Jan O. Korbel
  • Ashley D. Sanders
  • Flavia Angela Maria Maggiolini
  • Francesca Antonacci
  • First Published September 30, 2022
Research

Genomic environments scale the activities of diverse core promoters

  • Clarice K.Y. Hong
  • Barak A. Cohen
  • First Published December 27, 2021
Resource

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

  • Flavia Angela Maria Maggiolini
  • Ashley D. Sanders
  • Colin James Shew
  • Arvis Sulovari
  • Yafei Mao
  • Marta Puig Claudia Rita Catacchio Maria Dellino Donato Palmisano Ludovica Mercuri Miriana Bitonto David Porubský Mario Cáceres Evan E. Eichler
  • ... [+9 authors] ...,
  • Mario Ventura
  • Megan Y. Dennis
  • Jan O. Korbel
  • Francesca Antonacci
  • First Published October 22, 2020
Resource

Inversion variants in human and primate genomes

  • Claudia Rita Catacchio
  • Flavia Angela Maria Maggiolini
  • Pietro D'Addabbo
  • Miriana Bitonto
  • Oronzo Capozzi
  • Martina Lepore Signorile Mattia Miroballo
  • ... [+2 authors] ...,
  • Nicoletta Archidiacono
  • Evan E. Eichler
  • Mario Ventura
  • Francesca Antonacci
  • First Published May 18, 2018
Research

cis-regulatory activity" > Local sequence features that influence AP-1 cis-regulatory activity

  • Hemangi G. Chaudhari
  • Barak A. Cohen
  • First Published January 5, 2018
Corrigendum

Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

  • Mario Ventura
  • Claudia R. Catacchio
  • Saba Sajjadian
  • Laura Vives
  • Peter H. Sudmant
  • Tomas Marques-Bonet
  • Tina A. Graves
  • Richard K. Wilson
  • Evan E. Eichler
  • First Published September 1, 2017
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