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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
Method

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • Marcus W. Fedarko
  • Mikhail Kolmogorov
  • Pavel A. Pevzner
  • First Published November 23, 2022
Method

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • Andrey V. Bzikadze
  • Alla Mikheenko
  • Pavel A. Pevzner
  • First Published November 15, 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
Method

Automated annotation of human centromeres with HORmon

  • Olga Kunyavskaya
  • Tatiana Dvorkina
  • Andrey V. Bzikadze
  • Ivan A. Alexandrov
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Variations in antibody repertoires correlate with vaccine responses

  • Yana Safonova
  • Sung Bong Shin
  • Luke Kramer
  • James Reecy
  • Corey T. Watson
  • Timothy P.L. Smith
  • Pavel A. Pevzner
  • First Published March 31, 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
Research

V(DD)J recombination is an important and evolutionarily conserved mechanism for generating antibodies with unusually long CDR3s

  • Yana Safonova
  • Pavel A. Pevzner
  • First Published September 18, 2020
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