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Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Konstantin Popadin
Stephan Peischl
Marco Garieri
M. Reza Sailani
Audrey Letourneau
Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
... [+4 authors] ...,
Diogo Meyer
Laurent Excoffier
Alexandre Reymond
Stylianos E. Antonarakis

First Published December 13, 2017

Research

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

Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published April 1, 2015

Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published January 5, 2015

Research

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

Giuliana Giannuzzi
Eugenia Migliavacca
Alexandre Reymond

First Published June 10, 2014

Method

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

Method

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Cédric Howald
Andrea Tanzer
Jacqueline Chrast
Felix Kokocinski
Thomas Derrien
Nathalie Walters Jose M. Gonzalez Adam Frankish Bronwen L. Aken Thibaut Hourlier Jan-Hinnerk Vogel Simon White Stephen Searle
... [+8 authors] ...,
Jennifer Harrow
Tim J. Hubbard
Roderic Guigó
Alexandre Reymond

First Published September 5, 2012

Resource

GENCODE: The reference human genome annotation for The ENCODE Project

Jennifer Harrow
Adam Frankish
Jose M. Gonzalez
Electra Tapanari
Mark Diekhans
Felix Kokocinski Bronwen L. Aken Daniel Barrell Amonida Zadissa Stephen Searle If Barnes Alexandra Bignell Veronika Boychenko Toby Hunt Mike Kay Gaurab Mukherjee Jeena Rajan Gloria Despacio-Reyes Gary Saunders Charles Steward Rachel Harte Michael Lin Cédric Howald Andrea Tanzer Thomas Derrien Jacqueline Chrast Nathalie Walters Suganthi Balasubramanian Baikang Pei Michael Tress Jose Manuel Rodriguez Iakes Ezkurdia Jeltje van Baren Michael Brent David Haussler Manolis Kellis Alfonso Valencia
... [+32 authors] ...,
Alexandre Reymond
Mark Gerstein
Roderic Guigó
Tim J. Hubbard

First Published September 5, 2012

Perspective

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

David A. Ray
Mark A. Batzer

First Published June 1, 2011

Research

Copy number variation modifies expression time courses

Evelyne Chaignat
Emilie Aït Yahya-Graison
Charlotte N. Henrichsen
Jacqueline Chrast
Frédéric Schütz
Sylvain Pradervand
Alexandre Reymond

First Published November 17, 2010

Research

The effect of translocation-induced nuclear reorganization on gene expression

Louise Harewood
Frédéric Schütz
Shelagh Boyle
Paul Perry
Mauro Delorenzi
Wendy A. Bickmore
Alexandre Reymond

First Published March 8, 2010

Letter

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

Letter

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

RESOURCE

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Robert Lyle
Paola Prandini
Kazutoyo Osoegawa
Boudewijn ten Hallers
Sean Humphray
Baoli Zhu Eduardo Eyras Robert Castelo Christine P. Bird Sarantos Gagos Carol Scott Antony Cox Samuel Deutsch Catherine Ucla Marc Cruts Sophie Dahoun Xinwei She Frederique Bena Sheng-Yue Wang Christine Van Broeckhoven Evan E. Eichler Roderic Guigo
... [+17 authors] ...,
Jane Rogers
Pieter J. de Jong
Alexandre Reymond
Stylianos E. Antonarakis

First Published September 25, 2007

LETTER

Structured RNAs in the ENCODE selected regions of the human genome

Stefan Washietl
Jakob S. Pedersen
Jan O. Korbel
Claudia Stocsits
Andreas R. Gruber
Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Reiche Andrea Tanzer Catherine Ucla Carine Wyss Stylianos E. Antonarakis France Denoeud Julien Lagarde Jorg Drenkow Philipp Kapranov Thomas R. Gingeras Roderic Guigó Michael Snyder
... [+15 authors] ...,
Mark B. Gerstein
Alexandre Reymond
Ivo L. Hofacker
Peter F. Stadler

First Published June 13, 2007

ARTICLE

Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions

France Denoeud
Philipp Kapranov
Catherine Ucla
Adam Frankish
Robert Castelo
Jorg Drenkow Julien Lagarde Tyler Alioto Caroline Manzano Jacqueline Chrast Sujit Dike Carine Wyss Charlotte N. Henrichsen Nancy Holroyd Mark C. Dickson Ruth Taylor Zahra Hance Sylvain Foissac Richard M. Myers Jane Rogers Tim Hubbard Jennifer Harrow
... [+17 authors] ...,
Roderic Guigó
Thomas R. Gingeras
Stylianos E. Antonarakis
Alexandre Reymond

First Published June 13, 2007

LETTER

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

LETTER

Tandem chimerism as a means to increase protein complexity in the human genome

Genís Parra
Alexandre Reymond
Noura Dabbouseh
Emmanouil T. Dermitzakis
Robert Castelo
Timothy M. Thomson
Stylianos E. Antonarakis
Roderic Guigó

First Published December 12, 2005

LETTER

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

LETTER

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

LETTER

Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment

Emmanouil T. Dermitzakis
Ewen Kirkness
Scott Schwarz
Ewan Birney
Alexandre Reymond
Stylianos E. Antonarakis

First Published April 12, 2004

LETTER

Alu Insertion Polymorphisms" > Genetic Variation Among World Populations: Inferences From 100 Alu Insertion Polymorphisms

W. Scott Watkins
Alan R. Rogers
Christopher T. Ostler
Steve Wooding
Michael J. Bamshad
Anna-Marie E. Brassington Marion L. Carroll Son V. Nguyen Jerilyn A. Walker B.V. Ravi Prasad
... [+5 authors] ...,
P. Govinda Reddy
Pradipta K. Das
Mark A. Batzer
Lynn B. Jorde

First Published June 12, 2003

LETTER

Y Chromosome STR Haplotypes and the Genetic Structure of U.S. Populations of African, European, and Hispanic Ancestry

Manfred Kayser
Silke Brauer
Hiltrud Schädlich
Mechthild Prinz
Mark A. Batzer
Peter A. Zimmerman
B. A. Boatin
Mark Stoneking

First Published April 1, 2003

REVIEW

Mammalian Retroelements

Prescott L. Deininger
Mark A. Batzer

First Published October 1, 2002

LETTER

Active Alu Element “A-Tails”: Size Does Matter

Astrid M. Roy-Engel
Abdel-Halim Salem
Oluwatosin O. Oyeniran
Lisa Deininger
Dale J. Hedges
Gail E. Kilroy
Mark A. Batzer
Prescott L. Deininger

First Published August 21, 2002

LETTER

Patterns of Human Diversity, within and among Continents, Inferred from Biallelic DNA Polymorphisms

Chiara Romualdi
David Balding
Ivane S. Nasidze
Gregory Risch
Myles Robichaux
Stephen T. Sherry
Mark Stoneking
Mark A. Batzer
Guido Barbujani

First Published April 1, 2002

LETTER

Genetic Evidence on the Origins of Indian Caste Populations

Michael Bamshad
Toomas Kivisild
W. Scott Watkins
Mary E. Dixon
Chris E. Ricker
Baskara B. Rao J. Mastan Naidu B.V. Ravi Prasad P. Govinda Reddy Arani Rasanayagam Surinder S. Papiha Richard Villems Alan J. Redd Michael F. Hammer
... [+9 authors] ...,
Son V. Nguyen
Marion L. Carroll
Mark A. Batzer
Lynn B. Jorde

First Published May 8, 2001

LETTER

Reading between the LINEs: Human Genomic Variation Induced by LINE-1 Retrotransposition

Fang-miin Sheen
Stephen T. Sherry
Gregory M. Risch
Myles Robichaux
Ivane Nasidze
Mark Stoneking
Mark A. Batzer
Gary D. Swergold

First Published October 1, 2000

ARTICLE

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

Astrid M. Roy
Marion L. Carroll
Son V. Nguyen
Abdel-Halim Salem
Michael Oldridge
Andrew O. M. Wilkie
Mark A. Batzer
Prescott L. Deininger

First Published October 1, 2000

LETTER

AluInsertion Polymorphisms and Human Evolution: Evidence for a Larger Population Size in Africa " > AluInsertion Polymorphisms and Human Evolution: Evidence for a Larger Population Size in Africa

Mark Stoneking
Jennifer J. Fontius
Stephanie L. Clifford
Himla Soodyall
Santosh S. Arcot
Nilmani Saha
... [+1 authors] ...,
Trefor Jenkins
Mohammad A. Tahir
Prescott L. Deininger
Mark A. Batzer

First Published November 1, 1997

INSIGHT/OUTLOOK

Modeling Human Evolution—To Tree or Not to Tree?

Stephen T. Sherry
Mark A. Batzer

First Published October 1, 1997