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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

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

David B. West
Ravi K. Pasumarthi
Brian Baridon
Esi Djan
Amanda Trainor
Stephen M. Griffey Eric K. Engelhard
... [+2 authors] ...,
Jared Rapp
Bowen Li
Pieter J. de Jong
K.C. Kent Lloyd

First Published January 15, 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

Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Oronzo Capozzi
Lucia Carbone
Roscoe R. Stanyon
Annamaria Marra
Fengtang Yang
Christopher W. Whelan
Pieter J. de Jong
Mariano Rocchi
Nicoletta Archidiacono

First Published August 14, 2012

Research

Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X" > Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X

Di Kim Nguyen
Fan Yang
Rajinder Kaul
Can Alkan
Anthony Antonellis
Karen F. Friery
Baoli Zhu
Pieter J. de Jong
Christine M. Disteche

First Published January 31, 2011

LETTER

Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event

M. Katharine Rudd
RaeLynn M. Endicott
Cynthia Friedman
Megan Walker
Janet M. Young
Kazutoyo Osoegawa
Pieter J. de Jong
Eric D. Green
Barbara J. Trask

First Published October 24, 2008

LETTER

The amphioxus genome illuminates vertebrate origins and cephalochordate biology

Linda Z. Holland
Ricard Albalat
Kaoru Azumi
Èlia Benito-Gutiérrez
Matthew J. Blow
Marianne Bronner-Fraser Frederic Brunet Thomas Butts Simona Candiani Larry J. Dishaw David E.K. Ferrier Jordi Garcia-Fernàndez Jeremy J. Gibson-Brown Carmela Gissi Adam Godzik Finn Hallböök Dan Hirose Kazuyoshi Hosomichi Tetsuro Ikuta Hidetoshi Inoko Masanori Kasahara Jun Kasamatsu Takeshi Kawashima Ayuko Kimura Masaaki Kobayashi Zbynek Kozmik Kaoru Kubokawa Vincent Laudet Gary W. Litman Alice C. McHardy Daniel Meulemans Masaru Nonaka Robert P. Olinski Zeev Pancer Len A. Pennacchio Mario Pestarino Jonathan P. Rast Isidore Rigoutsos Marc Robinson-Rechavi Graeme Roch Hidetoshi Saiga Yasunori Sasakura Masanobu Satake Yutaka Satou Michael Schubert Nancy Sherwood Takashi Shiina Naohito Takatori Javier Tello Pavel Vopalensky Shuichi Wada Anlong Xu Yuzhen Ye Keita Yoshida Fumiko Yoshizaki Jr-Kai Yu Qing Zhang Christian M. Zmasek Pieter J. de Jong Kazutoyo Osoegawa
... [+55 authors] ...,
Nicholas H. Putnam
Daniel S. Rokhsar
Noriyuki Satoh
Peter W.H. Holland

First Published June 18, 2008

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

Methods

Decoding the fine-scale structure of a breast cancer genome and transcriptome

Stanislav Volik
Benjamin J. Raphael
Guiqing Huang
Michael R. Stratton
Graham Bignel
John Murnane John H. Brebner Krystyna Bajsarowicz Pamela L. Paris Quanzhou Tao David Kowbel Anna Lapuk Dmitri A. Shagin Irina A. Shagina Joe W. Gray
... [+10 authors] ...,
Jan-Fang Cheng
Pieter J. de Jong
Pavel Pevzner
Colin Collins

First Published February 3, 2006

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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

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

Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

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

Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Research

Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X" > Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X

LETTER

Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event

LETTER

The amphioxus genome illuminates vertebrate origins and cephalochordate biology

RESOURCE

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

Methods

Decoding the fine-scale structure of a breast cancer genome and transcriptome

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Your search for returned 22 results

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