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Your search for returned 43 results

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

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

Research

Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration

Weisheng Wu
Yong Cheng
Cheryl A. Keller
Jason Ernst
Swathi Ashok Kumar
Tejaswini Mishra Christapher Morrissey Christine M. Dorman Kuan-Bei Chen Daniela Drautz Belinda Giardine Yoichiro Shibata Lingyun Song Max Pimkin Gregory E. Crawford Terrence S. Furey Manolis Kellis Webb Miller James Taylor Stephan C. Schuster Yu Zhang
... [+16 authors] ...,
Francesca Chiaromonte
Gerd A. Blobel
Mitchell J. Weiss
Ross C. Hardison

First Published July 27, 2011

Method

Genome-wide identification of conserved regulatory function in diverged sequences

Leila Taher
David M. McGaughey
Samantha Maragh
Ivy Aneas
Seneca L. Bessling
Webb Miller
Marcelo A. Nobrega
Andrew S. McCallion
Ivan Ovcharenko

First Published May 31, 2011

Article

Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression

Yong Cheng
Weisheng Wu
Swathi Ashok Kumar
Duonan Yu
Wulan Deng
Tamara Tripic David C. King Kuan-Bei Chen Ying Zhang Daniela Drautz Belinda Giardine Stephan C. Schuster Webb Miller Francesca Chiaromonte
... [+9 authors] ...,
Yu Zhang
Gerd A. Blobel
Mitchell J. Weiss
Ross C. Hardison

First Published November 3, 2009

LETTER

Thylacinus cynocephalus)" > The mitochondrial genome sequence of the Tasmanian tiger (Thylacinus cynocephalus)

Webb Miller
Daniela I. Drautz
Jan E. Janecka
Arthur M. Lesk
Aakrosh Ratan
Lynn P. Tomsho Mike Packard Yeting Zhang Lindsay R. McClellan Ji Qi Fangqing Zhao M. Thomas P. Gilbert Love Dalén Juan Luis Arsuaga Per G.P. Ericson Daniel H. Huson
... [+11 authors] ...,
Kristofer M. Helgen
William J. Murphy
Anders Götherström
Stephan C. Schuster

First Published January 12, 2009

LETTER

Transcriptional enhancement by GATA1-occupied DNA segments is strongly associated with evolutionary constraint on the binding site motif

Yong Cheng
David C. King
Louis C. Dore
Xinmin Zhang
Yuepin Zhou
Ying Zhang Christine Dorman Demesew Abebe Swathi A. Kumar Francesca Chiaromonte
... [+5 authors] ...,
Webb Miller
Roland D. Green
Mitchell J. Weiss
Ross C. Hardison

First Published September 25, 2008

RESOURCE

28-Way vertebrate alignment and conservation track in the UCSC Genome Browser

Webb Miller
Kate Rosenbloom
Ross C. Hardison
Minmei Hou
James Taylor
Brian Raney Richard Burhans David C. King Robert Baertsch Daniel Blankenberg Sergei L. Kosakovsky Pond Anton Nekrutenko Belinda Giardine Robert S. Harris Svitlana Tyekucheva Mark Diekhans Thomas H. Pringle William J. Murphy Arthur Lesk George M. Weinstock Kerstin Lindblad-Toh Richard A. Gibbs
... [+17 authors] ...,
Eric S. Lander
Adam Siepel
David Haussler
W. James Kent

First Published November 5, 2007

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