Rebecca Johnson

The Koala Genome

Latest Research

  • Letter |

    A genome-wide study identifies common variation near IRF6 associated with liver injury induced by IFN-β in individuals treated for multiple sclerosis. The risk locus is associated with differential expression of IRF6 and may help guide safer use of this biologic.

    • Kaarina Kowalec
    • , Galen E. B. Wright
    • , Britt I. Drögemöller
    • , Folefac Aminkeng
    • , Amit P. Bhavsar
    • , Elaine Kingwell
    • , Eric M. Yoshida
    • , Anthony Traboulsee
    • , Ruth Ann Marrie
    • , Marcelo Kremenchutzky
    • , Trudy L. Campbell
    • , Pierre Duquette
    • , Naga Chalasani
    • , Mia Wadelius
    • , Pär Hallberg
    • , Zongqi Xia
    • , Philip L. De Jager
    • , Joshua C. Denny
    • , Mary F. Davis
    • , Colin J. D. Ross
    • , Helen Tremlett
    •  & Bruce C. Carleton
  • Letter |

    High levels of fumarate or succinate suppress the homologous-recombination DNA-repair pathway in cancer cells that are deficient for FH or SDH, respectively. These tumor cells are vulnerable to PARP inhibitors.

    • Parker L. Sulkowski
    • , Ranjini K. Sundaram
    • , Sebastian Oeck
    • , Christopher D. Corso
    • , Yanfeng Liu
    • , Seth Noorbakhsh
    • , Monica Niger
    • , Marta Boeke
    • , Daiki Ueno
    • , Aravind Nambiar Kalathil
    • , Xun Bao
    • , Jing Li
    • , Brian Shuch
    • , Ranjit S. Bindra
    •  & Peter M. Glazer
  • Letter |

    Biallelic truncating mutations in CTNNA2, encoding αN-catenin, cause a new pachygyria syndrome associated with actin regulation and ARP2 and ARP3 repression in neurons.

    • Ashleigh E. Schaffer
    • , Martin W. Breuss
    • , Ahmet Okay Caglayan
    • , Nouriya Al-Sanaa
    • , Hind Y. Al-Abdulwahed
    • , Hande Kaymakçalan
    • , Cahide Yılmaz
    • , Maha S. Zaki
    • , Rasim O. Rosti
    • , Brett Copeland
    • , Seung Tae Baek
    • , Damir Musaev
    • , Eric C. Scott
    • , Tawfeg Ben-Omran
    • , Ariana Kariminejad
    • , Hulya Kayserili
    • , Faezeh Mojahedi
    • , Majdi Kara
    • , Na Cai
    • , Jennifer L. Silhavy
    • , Seham Elsharif
    • , Elif Fenercioglu
    • , Bruce A. Barshop
    • , Bulent Kara
    • , Rengang Wang
    • , Valentina Stanley
    • , Kiely N. James
    • , Rahul Nachnani
    • , Aneesha Kalur
    • , Hisham Megahed
    • , Faruk Incecik
    • , Sumita Danda
    • , Yasemin Alanay
    • , Eissa Faqeih
    • , Gia Melikishvili
    • , Lobna Mansour
    • , Ian Miller
    • , Biayna Sukhudyan
    • , Jamel Chelly
    • , William B. Dobyns
    • , Kaya Bilguvar
    • , Rami Abou Jamra
    • , Murat Gunel
    •  & Joseph G. Gleeson
  • Article |

    A high-throughput method for functional SNP identification uses enzymatic restriction to detect altered regulatory protein binding and identifies 148 candidate fSNPs associated with juvenile idiopathic arthritis, including two that regulate STAT4 via the regulatory proteins SATB2 and H1.2.

    • Gang Li
    • , Marta Martínez-Bonet
    • , Di Wu
    • , Yu Yang
    • , Jing Cui
    • , Hung N. Nguyen
    • , Pierre Cunin
    • , Anaïs Levescot
    • , Ming Bai
    • , Harm-Jan Westra
    • , Yukinori Okada
    • , Michael B. Brenner
    • , Soumya Raychaudhuri
    • , Eric A. Hendrickson
    • , Richard L. Maas
    •  & Peter A. Nigrovic
  • Letter |

    Genome-wide association analyses identify new risk loci for allergic rhinitis and for sensitization to inhalant allergens. The associated regions implicate immune-related pathways, including innate and adaptive IgE-related mechanisms.

    • Johannes Waage
    • , Marie Standl
    • , John A. Curtin
    • , Leon E. Jessen
    • , Jonathan Thorsen
    • , Chao Tian
    • , Nathan Schoettler
    • , Carlos Flores
    • , Abdel Abdellaoui
    • , Tarunveer S. Ahluwalia
    • , Alexessander C. Alves
    • , Andre F. S. Amaral
    • , Josep M. Antó
    • , Andreas Arnold
    • , Amalia Barreto-Luis
    • , Hansjörg Baurecht
    • , Catharina E. M. van Beijsterveldt
    • , Eugene R. Bleecker
    • , Sílvia Bonàs-Guarch
    • , Dorret I. Boomsma
    • , Susanne Brix
    • , Supinda Bunyavanich
    • , Esteban G. Burchard
    • , Zhanghua Chen
    • , Ivan Curjuric
    • , Adnan Custovic
    • , Herman T. den Dekker
    • , Shyamali C. Dharmage
    • , Julia Dmitrieva
    • , Liesbeth Duijts
    • , Markus J. Ege
    • , W. James Gauderman
    • , Michel Georges
    • , Christian Gieger
    • , Frank Gilliland
    • , Raquel Granell
    • , Hongsheng Gui
    • , Torben Hansen
    • , Joachim Heinrich
    • , John Henderson
    • , Natalia Hernandez-Pacheco
    • , Patrick Holt
    • , Medea Imboden
    • , Vincent W. V. Jaddoe
    • , Marjo-Riitta Jarvelin
    • , Deborah L. Jarvis
    • , Kamilla K. Jensen
    • , Ingileif Jónsdóttir
    • , Michael Kabesch
    • , Jaakko Kaprio
    • , Ashish Kumar
    • , Young-Ae Lee
    • , Albert M. Levin
    • , Xingnan Li
    • , Fabian Lorenzo-Diaz
    • , Erik Melén
    • , Josep M. Mercader
    • , Deborah A. Meyers
    • , Rachel Myers
    • , Dan L. Nicolae
    • , Ellen A. Nohr
    • , Teemu Palviainen
    • , Lavinia Paternoster
    • , Craig E. Pennell
    • , Göran Pershagen
    • , Maria Pino-Yanes
    • , Nicole M. Probst-Hensch
    • , Franz Rüschendorf
    • , Angela Simpson
    • , Kari Stefansson
    • , Jordi Sunyer
    • , Gardar Sveinbjornsson
    • , Elisabeth Thiering
    • , Philip J. Thompson
    • , Maties Torrent
    • , David Torrents
    • , Joyce Y. Tung
    • , Carol A. Wang
    • , Stephan Weidinger
    • , Scott Weiss
    • , Gonneke Willemsen
    • , L. Keoki Williams
    • , Carole Ober
    • , David A. Hinds
    • , Manuel A. Ferreira
    • , Hans Bisgaard
    • , David P. Strachan
    •  & Klaus Bønnelykke

News & Comment

  • Editorial |

    In this issue, we highlight examples of the growing capability of genetic epidemiology and its intersection with genomic data to identify the underpinnings of the functions, predispositions and vulnerabilities of the human brain. In particular, we are publishing three studies into intelligence, neuroticism and epilepsy with the potential to guide interventions in education, neuroscience and medicine, respectively.

  • News & Views |

    Roses have held an attraction for people all over the world as ornamental plants. Now genome sequencing of the highly heterozygous Rosa chinensis and resequencing of major genotypes open the door to a greater understanding of rose evolutionary history and the regulatory mechanisms determining rose flower color and scent.

    • Qing Xu
    •  & Zhong-Jian Liu
  • Editorial |

    To celebrate the Rosa genomes, we invite you to imagine ways to make rosy data as well loved as the roses themselves. This is an opportunity for data modeling and new discoveries from reanalysis, as well as for data display to feed public interest in the science and culture of flowers.

About the Journal

  • Nature Genetics publishes the very highest quality research in genetics, encompassing genetic and functional genomic studies on human and plant traits and on other model organisms.
  • Nature Genetics publishes work including original research articles, Reviews, Correspondence and commissioned content.
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  • Reviewers are normally asked to referee all revisions of a paper, and are informed of the decisions being taken by the editors.

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