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Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • Hao Zhu
  • Jiao Zhang
  • Soumya Rao
  • Matthew D. Durbin
  • Ying Li
  • Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
  • ... [+18 authors] ...,
  • Qingguo Zhang
  • Stylianos E. Antonarakis
  • Timothy C. Cox
  • Yong-Biao Zhang
  • First Published April 15, 2025
Research

The rate of de novo structural variation is increased in in vitro–produced offspring and preferentially affects the paternal genome

  • Young-Lim Lee
  • Aniek C. Bouwman
  • Chad Harland
  • Mirte Bosse
  • Gabriel Costa Monteiro Moreira
  • Roel F. Veerkamp Erik Mullaart Nadine Cambisano Martien A.M. Groenen
  • ... [+4 authors] ...,
  • Latifa Karim
  • Wouter Coppieters
  • Michel Georges
  • Carole Charlier
  • First Published October 4, 2023
Resource

An organism-wide ATAC-seq peak catalog for the bovine and its use to identify regulatory variants

  • Can Yuan
  • Lijing Tang
  • Thomas Lopdell
  • Vyacheslav A. Petrov
  • Claire Oget-Ebrad
  • Gabriel Costa Monteiro Moreira José Luis Gualdrón Duarte Arnaud Sartelet Zhangrui Cheng Mazdak Salavati D. Claire Wathes Mark A. Crowe Wouter Coppieters Mathew Littlejohn Carole Charlier Tom Druet Michel Georges Haruko Takeda Mark Crowe Niamh McLoughlin Alan Fahey Elizabeth Matthews Andreia Santoro Colin Byrne Pauline Rudd Roisin O'Flaherty Sinead Hallinan Claire Wathes Zhangrui Cheng Ali Fouladi Geoff Pollott Dirk Werling Beatriz Sanz Bernardo Mazdak Salavati Laura Buggiotti Alistair Wylie Matt Bell Conrad Ferris Mieke Vaneetvelde Kristof Hermans Geert Opsomer Sander Moerman Jenne De Koster Hannes Bogaert Jan Vandepitte Leila Vandevelde Bonny Vanranst Johanna Hoglund Susanne Dahl Klaus Ingvartsen Martin Sørensen Leslie Foldager Soren Ostergaard Janne Rothmann Mogens Krogh Else Meyer Charlotte Gaillard Jehan Ettema Tine Rousing Federica Signorelli Francesco Napolitano Bianca Moioli Alessandra Crisa Luca Buttazzoni Jennifer McClure Daragh Matthews Francis Kearney Andrew Cromie Matt McClure Shujun Zhang Xing Chen Huanchun Chen Junlong Zhao Liguo Yang Guohua Hua Chen Tan Guiqiang Wang Michel Bonneau Andrea Pompozzi Armin Pearn Arnold Evertson Linda Kosten Anders Fogh Thomas Andersen Matthew Lucy Chris Elsik Gavin Conant Jerry Taylor Nicolas Gengler Michel Georges Frederic Colinet Marilou Ramos Pamplona Hedi Hammami Catherine Bastin Haruko Takeda Aurelie Laine
  • ... [+91 authors] ...,
  • Lijing Tang
  • Martin Schulze
  • Cinzia Marchitelli
  • Sergio Palma-Vera
  • First Published September 26, 2023
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • Stylianos E. Antonarakis
  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • Stylianos E. Antonarakis
  • Stuart H. Orkin
  • First Published March 21, 2022
Research

Enhancers with tissue-specific activity are enriched in intronic regions

  • Beatrice Borsari
  • Pablo Villegas-Mirón
  • Sílvia Pérez-Lluch
  • Isabel Turpin
  • Hafid Laayouni
  • Alba Segarra-Casas
  • Jaume Bertranpetit
  • Roderic Guigó
  • Sandra Acosta
  • First Published July 21, 2021
Corrigendum

Corrigendum: Functional annotation of human long noncoding RNAs via molecular phenotyping

  • Jordan A. Ramilowski
  • Chi Wai Yip
  • Saumya Agrawal
  • Jen-Chien Chang
  • Yari Ciani
  • Ivan V. Kulakovskiy Mickaël Mendez Jasmine Li Ching Ooi John F. Ouyang Nick Parkinson Andreas Petri Leonie Roos Jessica Severin Kayoko Yasuzawa Imad Abugessaisa Altuna Akalin Ivan V. Antonov Erik Arner Alessandro Bonetti Hidemasa Bono Beatrice Borsari Frank Brombacher Christopher J.F. Cameron Carlo Vittorio Cannistraci Ryan Cardenas Melissa Cardon Howard Chang Josée Dostie Luca Ducoli Alexander Favorov Alexandre Fort Diego Garrido Noa Gil Juliette Gimenez Reto Guler Lusy Handoko Jayson Harshbarger Akira Hasegawa Yuki Hasegawa Kosuke Hashimoto Norihito Hayatsu Peter Heutink Tetsuro Hirose Eddie L. Imada Masayoshi Itoh Bogumil Kaczkowski Aditi Kanhere Emily Kawabata Hideya Kawaji Tsugumi Kawashima S. Thomas Kelly Miki Kojima Naoto Kondo Haruhiko Koseki Tsukasa Kouno Anton Kratz Mariola Kurowska-Stolarska Andrew Tae Jun Kwon Jeffrey Leek Andreas Lennartsson Marina Lizio Fernando López-Redondo Joachim Luginbühl Shiori Maeda Vsevolod J. Makeev Luigi Marchionni Yulia A. Medvedeva Aki Minoda Ferenc Müller Manuel Muñoz-Aguirre Mitsuyoshi Murata Hiromi Nishiyori Kazuhiro R. Nitta Shuhei Noguchi Yukihiko Noro Ramil Nurtdinov Yasushi Okazaki Valerio Orlando Denis Paquette Callum J.C. Parr Owen J.L. Rackham Patrizia Rizzu Diego Fernando Sánchez Martinez Albin Sandelin Pillay Sanjana Colin A.M. Semple Youtaro Shibayama Divya M. Sivaraman Takahiro Suzuki Suzannah C. Szumowski Michihira Tagami Martin S. Taylor Chikashi Terao Malte Thodberg Supat Thongjuea Vidisha Tripathi Igor Ulitsky Roberto Verardo Ilya E. Vorontsov Chinatsu Yamamoto Robert S. Young J. Kenneth Baillie Alistair R.R. Forrest Roderic Guigó Michael M. Hoffman Chung Chau Hon Takeya Kasukawa Sakari Kauppinen Juha Kere Boris Lenhard Claudio Schneider Harukazu Suzuki
  • ... [+107 authors] ...,
  • Ken Yagi
  • Michiel J.L. de Hoon
  • Jay W. Shin
  • Piero Carninci
  • First Published September 14, 2020
Resource

A limited set of transcriptional programs define major cell types

  • Alessandra Breschi
  • Manuel Muñoz-Aguirre
  • Valentin Wucher
  • Carrie A. Davis
  • Diego Garrido-Martín
  • Sarah Djebali Jesse Gillis Dmitri D. Pervouchine Anna Vlasova Alexander Dobin Chris Zaleski Jorg Drenkow Cassidy Danyko Alexandra Scavelli
  • ... [+9 authors] ...,
  • Ferran Reverter
  • Michael P. Snyder
  • Thomas R. Gingeras
  • Roderic Guigó
  • First Published July 29, 2020
Resource

Functional annotation of human long noncoding RNAs via molecular phenotyping

  • Jordan A. Ramilowski
  • Chi Wai Yip
  • Saumya Agrawal
  • Jen-Chien Chang
  • Yari Ciani
  • Ivan V. Kulakovskiy Mickaël Mendez Jasmine Li Ching Ooi John F. Ouyang Nick Parkinson Andreas Petri Leonie Roos Jessica Severin Kayoko Yasuzawa Imad Abugessaisa Altuna Akalin Ivan V. Antonov Erik Arner Alessandro Bonetti Hidemasa Bono Beatrice Borsari Frank Brombacher Christopher J.F. Cameron Carlo Vittorio Cannistraci Ryan Cardenas Melissa Cardon Howard Chang Josée Dostie Luca Ducoli Alexander Favorov Alexandre Fort Diego Garrido Noa Gil Juliette Gimenez Reto Guler Lusy Handoko Jayson Harshbarger Akira Hasegawa Yuki Hasegawa Kosuke Hashimoto Norihito Hayatsu Peter Heutink Tetsuro Hirose Eddie L. Imada Masayoshi Itoh Bogumil Kaczkowski Aditi Kanhere Emily Kawabata Hideya Kawaji Tsugumi Kawashima S. Thomas Kelly Miki Kojima Naoto Kondo Haruhiko Koseki Tsukasa Kouno Anton Kratz Mariola Kurowska-Stolarska Andrew Tae Jun Kwon Jeffrey Leek Andreas Lennartsson Marina Lizio Fernando López-Redondo Joachim Luginbühl Shiori Maeda Vsevolod J. Makeev Luigi Marchionni Yulia A. Medvedeva Aki Minoda Ferenc Müller Manuel Muñoz-Aguirre Mitsuyoshi Murata Hiromi Nishiyori Kazuhiro R. Nitta Shuhei Noguchi Yukihiko Noro Ramil Nurtdinov Yasushi Okazaki Valerio Orlando Denis Paquette Callum J.C. Parr Owen J.L. Rackham Patrizia Rizzu Diego Fernando Sánchez Martinez Albin Sandelin Pillay Sanjana Colin A.M. Semple Youtaro Shibayama Divya M. Sivaraman Takahiro Suzuki Suzannah C. Szumowski Michihira Tagami Martin S. Taylor Chikashi Terao Malte Thodberg Supat Thongjuea Vidisha Tripathi Igor Ulitsky Roberto Verardo Ilya E. Vorontsov Chinatsu Yamamoto Robert S. Young J. Kenneth Baillie Alistair R.R. Forrest Roderic Guigó Michael M. Hoffman Chung Chau Hon Takeya Kasukawa Sakari Kauppinen Juha Kere Boris Lenhard Claudio Schneider Harukazu Suzuki
  • ... [+107 authors] ...,
  • Ken Yagi
  • Michiel J.L. de Hoon
  • Jay W. Shin
  • Piero Carninci
  • First Published July 27, 2020
Method

SNP-based quantitative deconvolution of biological mixtures: application to the detection of cows with subclinical mastitis by whole-genome sequencing of tank milk

  • Wouter Coppieters
  • Latifa Karim
  • Michel Georges
  • First Published June 26, 2020
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