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Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel Stemerdink
Tabea Riepe
Nick Zomer
Renee Salz
Michael Kwint
Jaap Oostrik Raoul Timmermans Barbara Ferrari Stefano Ferrari Alfredo Dueñas Rey Emma Delanote Suzanne E. de Bruijn Hannie Kremer Susanne Roosing Frauke Coppieters Alexander Hoischen
... [+11 authors] ...,
Frans P.M. Cremers
Peter A.C. ‘t Hoen
Erwin van Wijk
Erik de Vrieze

First Published March 4, 2025

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease" > ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano
Mubeen Khan
Stéphanie S. Cornelis
Valerie Richelle
Silvia Albert
Alejandro Garanto Duaa Elmelik Raheel Qamar
... [+3 authors] ...,
Dorien Lugtenberg
L. Ingeborgh van den Born
Rob W.J. Collin
Frans P.M. Cremers

First Published November 21, 2017

Callithrix jacchus genome" > Discovery of a new repeat family in the Callithrix jacchus genome

Miriam K. Konkel
Brygg Ullmer
Erika L. Arceneaux
Sreeja Sanampudi
Sarah A. Brantley
Robert Hubley
Arian F.A. Smit
Mark A. Batzer

First Published February 25, 2016

Alu insertions in diverse human populations" > Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

David J. Witherspoon
Yuhua Zhang
Jinchuan Xing
W. Scott Watkins
Hongseok Ha
Mark A. Batzer
Lynn B. Jorde

First Published April 18, 2013

Reading TE leaves: New approaches to the identification of transposable element insertions

David A. Ray
Mark A. Batzer

First Published June 1, 2011

5′-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

Annette Damert
Julija Raiz
Axel V. Horn
Johannes Löwer
Hui Wang
Jinchuan Xing
Mark A. Batzer
Roswitha Löwer
Gerald G. Schumann

First Published August 3, 2009

Mobile elements create structural variation: Analysis of a complete human genome

Jinchuan Xing
Yuhua Zhang
Kyudong Han
Abdel Halim Salem
Shurjo K. Sen
Chad D. Huff Qiong Zhou
... [+2 authors] ...,
Ewen F. Kirkness
Samuel Levy
Mark A. Batzer
Lynn B. Jorde

First Published May 13, 2009

Monodelphis domestica" > Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica

Andrew J. Gentles
Matthew J. Wakefield
Oleksiy Kohany
Wanjun Gu
Mark A. Batzer
David D. Pollock
Jerzy Jurka

First Published May 10, 2007

Alu amplification" > Under the genomic radar: The Stealth model of Alu amplification

Kyudong Han
Jinchuan Xing
Hui Wang
Dale J. Hedges
Randall K. Garber
Richard Cordaux
Mark A. Batzer

First Published May 2, 2005

Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages" > Differential Alu Mobilization and Polymorphism Among the Human and Chimpanzee Lineages

Dale J. Hedges
Pauline A. Callinan
Richard Cordaux
Jinchuan Xing
Erin Barnes
Mark A. Batzer

First Published June 1, 2004

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