Filter results by:
Author
Publication date
Article type

Filter by Article type

Your search for returned 37 results

Save search
Order by:
Show per page

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

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022

Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages" > Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages

  • Jennifer F. Hughes
  • Helen Skaletsky
  • Tatyana Pyntikova
  • Natalia Koutseva
  • Terje Raudsepp
  • Laura G. Brown Daniel W. Bellott Ting-Jan Cho Shannon Dugan-Rocha Ziad Khan Colin Kremitzki Catrina Fronick Tina A. Graves-Lindsay Lucinda Fulton Wesley C. Warren Richard K. Wilson Elaine Owens James E. Womack William J. Murphy Donna M. Muzny
  • ... [+15 authors] ...,
  • Kim C. Worley
  • Bhanu P. Chowdhary
  • Richard A. Gibbs
  • David C. Page
  • First Published November 18, 2020

Macaca mulatta) based on whole-genome sequences" > The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences

  • Cheng Xue
  • Muthuswamy Raveendran
  • R. Alan Harris
  • Gloria L. Fawcett
  • Xiaoming Liu
  • Simon White Mahmoud Dahdouli David Rio Deiros Jennifer E. Below William Salerno Laura Cox Guoping Fan Betsy Ferguson Julie Horvath Zach Johnson Sree Kanthaswamy H. Michael Kubisch Dahai Liu Michael Platt David G. Smith Binghua Sun Eric J. Vallender Feng Wang Roger W. Wiseman Rui Chen
  • ... [+20 authors] ...,
  • Donna M. Muzny
  • Richard A. Gibbs
  • Fuli Yu
  • Jeffrey Rogers
  • First Published October 17, 2016

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

  • D. Nicole R. Methner
  • Steven E. Scherer
  • Katherine Welch
  • Magdalena Walkiewicz
  • Christine M. Eng
  • John W. Belmont Mark C. Powell Viktoriya Korchina Harsha Vardhan Doddapaneni Donna M. Muzny
  • ... [+5 authors] ...,
  • Richard A. Gibbs
  • Dwayne A. Wolf
  • Luis A. Sanchez
  • Roger Kahn
  • First Published July 19, 2016

The ethics of conducting molecular autopsies in cases of sudden death in the young

  • Amy L. McGuire
  • Quianta Moore
  • Mary Majumder
  • Magdalena Walkiewicz
  • Christine M. Eng
  • John W. Belmont Salma Nassef Sandra Darilek Katie Rutherford Stacey Pereira Steven E. Scherer V. Reid Sutton
  • ... [+7 authors] ...,
  • Dwayne Wolf
  • Richard A. Gibbs
  • Roger Kahn
  • Luis A. Sanchez
  • First Published July 13, 2016

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

  • Eve Shinbrot
  • Erin E. Henninger
  • Nils Weinhold
  • Kyle R. Covington
  • A. Yasemin Göksenin
  • Nikolaus Schultz Hsu Chao HarshaVardhan Doddapaneni Donna M. Muzny
  • ... [+4 authors] ...,
  • Richard A. Gibbs
  • Chris Sander
  • Zachary F. Pursell
  • David A. Wheeler
  • First Published September 16, 2014

D. melanogaster modENCODE transcriptome annotation" > Comparative validation of the D. melanogaster modENCODE transcriptome annotation

  • Zhen-Xia Chen
  • David Sturgill
  • Jiaxin Qu
  • Huaiyang Jiang
  • Soo Park
  • Nathan Boley Ana Maria Suzuki Anthony R. Fletcher David C. Plachetzki Peter C. FitzGerald Carlo G. Artieri Joel Atallah Olga Barmina James B. Brown Kerstin P. Blankenburg Emily Clough Abhijit Dasgupta Sai Gubbala Yi Han Joy C. Jayaseelan Divya Kalra Yoo-Ah Kim Christie L. Kovar Sandra L. Lee Mingmei Li James D. Malley John H. Malone Tittu Mathew Nicolas R. Mattiuzzo Mala Munidasa Donna M. Muzny Fiona Ongeri Lora Perales Teresa M. Przytycka Ling-Ling Pu Garrett Robinson Rebecca L. Thornton Nehad Saada Steven E. Scherer Harold E. Smith Charles Vinson Crystal B. Warner Kim C. Worley Yuan-Qing Wu Xiaoyan Zou Peter Cherbas Manolis Kellis Michael B. Eisen Fabio Piano Karin Kionte David H. Fitch Paul W. Sternberg Asher D. Cutter Michael O. Duff Roger A. Hoskins Brenton R. Graveley Richard A. Gibbs Peter J. Bickel Artyom Kopp
  • ... [+54 authors] ...,
  • Piero Carninci
  • Susan E. Celniker
  • Brian Oliver
  • Stephen Richards
  • First Published July 1, 2014

Drosophila melanogaster Genetic Reference Panel lines" > Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

  • Wen Huang
  • Andreas Massouras
  • Yutaka Inoue
  • Jason Peiffer
  • Miquel Ràmia
  • Aaron M. Tarone Lavanya Turlapati Thomas Zichner Dianhui Zhu Richard F. Lyman Michael M. Magwire Kerstin Blankenburg Mary Anna Carbone Kyle Chang Lisa L. Ellis Sonia Fernandez Yi Han Gareth Highnam Carl E. Hjelmen John R. Jack Mehwish Javaid Joy Jayaseelan Divya Kalra Sandy Lee Lora Lewis Mala Munidasa Fiona Ongeri Shohba Patel Lora Perales Agapito Perez LingLing Pu Stephanie M. Rollmann Robert Ruth Nehad Saada Crystal Warner Aneisa Williams Yuan-Qing Wu Akihiko Yamamoto Yiqing Zhang Yiming Zhu Robert R.H. Anholt Jan O. Korbel David Mittelman Donna M. Muzny Richard A. Gibbs Antonio Barbadilla J. Spencer Johnston
  • ... [+42 authors] ...,
  • Eric A. Stone
  • Stephen Richards
  • Bart Deplancke
  • Trudy F.C. Mackay
  • First Published April 8, 2014
Show per page