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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

A harmonized public resource of deeply sequenced diverse human genomes

Zan Koenig
Mary T. Yohannes
Lethukuthula L. Nkambule
Xuefang Zhao
Julia K. Goodrich
Heesu Ally Kim Michael W. Wilson Grace Tiao Stephanie P. Hao Nareh Sahakian Katherine R. Chao Mark A. Walker Yunfei Lyu Heidi L. Rehm Benjamin M. Neale Michael E. Talkowski Mark J. Daly
... [+12 authors] ...,
Harrison Brand
Konrad J. Karczewski
Elizabeth G. Atkinson
Alicia R. Martin

First Published May 15, 2024

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

Elizabeth G. Atkinson
Mykyta Artomov
Alexander A. Loboda
Heidi L. Rehm
Daniel G. MacArthur
Konrad J. Karczewski
Benjamin M. Neale
Mark J. Daly

First Published May 30, 2023

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

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Kristen M. Laricchia
Nicole J. Lake
Nicholas A. Watts
Megan Shand
Andrea Haessly
Laura Gauthier David Benjamin Eric Banks Jose Soto Kiran Garimella James Emery Heidi L. Rehm Daniel G. MacArthur
... [+8 authors] ...,
Grace Tiao
Monkol Lek
Vamsi K. Mootha
Sarah E. Calvo

First Published January 24, 2022

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

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

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

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

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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