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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

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Hao Zhu
Jiao Zhang
Soumya Rao
Matthew D. Durbin
Ying Li
Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
... [+18 authors] ...,
Qingguo Zhang
Stylianos E. Antonarakis
Timothy C. Cox
Yong-Biao Zhang

First Published April 15, 2025

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

Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

Peng Gao
Xiaotao Shen
Xinyue Zhang
Chao Jiang
Sai Zhang
Xin Zhou
Sophia Miryam Schüssler-Fiorenza Rose
Michael Snyder

First Published June 6, 2022

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

Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

Hagen Tilgner
Fereshteh Jahanbani
Ishaan Gupta
Paul Collier
Eric Wei
Morten Rasmussen
Michael Snyder

First Published December 1, 2017

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

Research

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Kiana Mohajeri
Stuart Cantsilieris
John Huddleston
Bradley J. Nelson
Bradley P. Coe
Catarina D. Campbell Carl Baker Lana Harshman Katherine M. Munson Zev N. Kronenberg Milinn Kremitzki Archana Raja Claudia Rita Catacchio
... [+8 authors] ...,
Tina A. Graves
Richard K. Wilson
Mario Ventura
Evan E. Eichler

First Published October 7, 2016

Research

Hominoid fission of chromosome 14/15 and the role of segmental duplications

Giuliana Giannuzzi
Michele Pazienza
John Huddleston
Francesca Antonacci
Maika Malig
Laura Vives
Evan E. Eichler
Mario Ventura

First Published September 27, 2013

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