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Your search for returned 61 results

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

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

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Stylianos E. Antonarakis

First Published March 31, 2022

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 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

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