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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

  • Wouter Steyaert
  • Lydia Sagath
  • German Demidov
  • Vicente A. Yépez
  • Anna Esteve-Codina
  • Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
  • ... [+44 authors] ...,
  • Stephan Ossowski
  • Lisenka E.L.M. Vissers
  • Christian Gilissen
  • Alexander Hoischen
  • First Published March 26, 2025

Zea mays L.) hybrids relative to their inbred parents" > Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents

  • Anja Paschold
  • Yi Jia
  • Caroline Marcon
  • Steve Lund
  • Nick B. Larson
  • Cheng-Ting Yeh Stephan Ossowski
  • ... [+2 authors] ...,
  • Christa Lanz
  • Dan Nettleton
  • Patrick S. Schnable
  • Frank Hochholdinger
  • First Published October 19, 2012

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

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

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

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

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

Arabidopsis thaliana with short reads" > Sequencing of natural strains of Arabidopsis thaliana with short reads

  • Stephan Ossowski
  • Korbinian Schneeberger
  • Richard M. Clark
  • Christa Lanz
  • Norman Warthmann
  • Detlef Weigel
  • First Published September 25, 2008

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

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

  • Elliott H. Margulies
  • Gregory M. Cooper
  • George Asimenos
  • Daryl J. Thomas
  • Colin N. Dewey
  • Adam Siepel Ewan Birney Damian Keefe Ariel S. Schwartz Minmei Hou James Taylor Sergey Nikolaev Juan I. Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham James B. Brown Peter Bickel Ian Holmes James C. Mullikin Abel Ureta-Vidal Benedict Paten Eric A. Stone Kate R. Rosenbloom W. James Kent Gerard G. Bouffard Xiaobin Guan Nancy F. Hansen Jacquelyn R. Idol Valerie V.B. Maduro Baishali Maskeri Jennifer C. McDowell Morgan Park Pamela J. Thomas Alice C. Young Robert W. Blakesley Donna M. Muzny Erica Sodergren David A. Wheeler Kim C. Worley Huaiyang Jiang George M. Weinstock Richard A. Gibbs Tina Graves Robert Fulton Elaine R. Mardis Richard K. Wilson Michele Clamp James Cuff Sante Gnerre David B. Jaffe Jean L. Chang Kerstin Lindblad-Toh Eric S. Lander Angie Hinrichs Heather Trumbower Hiram Clawson Ann Zweig Robert M. Kuhn Galt Barber Rachel Harte Donna Karolchik Matthew A. Field Richard A. Moore Carrie A. Matthewson Jacqueline E. Schein Marco A. Marra Stylianos E. Antonarakis Serafim Batzoglou Nick Goldman Ross Hardison David Haussler
  • ... [+68 authors] ...,
  • Webb Miller
  • Lior Pachter
  • Eric D. Green
  • Arend Sidow
  • First Published June 13, 2007
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