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Method

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez-Palma
Patrick May
Sumaiya Iqbal
Lisa-Marie Niestroj
Juanjiangmeng Du
Henrike O. Heyne Jessica A. Castrillon Anne O'Donnell-Luria
... [+3 authors] ...,
Peter Nürnberg
Aarno Palotie
Mark Daly
Dennis Lal

First Published December 23, 2019

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

Research

ZAK as a cause of limb defects in humans and mice" > Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Malte Spielmann
Naseebullah Kakar
Naeimeh Tayebi
Catherine Leettola
Gudrun Nürnberg
Nadine Sowada Darío G. Lupiáñez Izabela Harabula Ricarda Flöttmann Denise Horn Wing Lee Chan Lars Wittler Rüstem Yilmaz Janine Altmüller Holger Thiele Hans van Bokhoven Charles E. Schwartz Peter Nürnberg James U. Bowie
... [+14 authors] ...,
Jamil Ahmad
Christian Kubisch
Stefan Mundlos
Guntram Borck

First Published January 11, 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

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

Perspective

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

David A. Ray
Mark A. Batzer

First Published June 1, 2011

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

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

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