Nature Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Long-range ferrimagnetic order in a two-dimensional supramolecular Kondo lattice

Long-range magnetic order hardly ever emerges in a two-dimensional system due to the competition of fundamental magnetic interactions. Here, Girovskyet al. directly observe a long-range ferrimagnetic order emerging in a two-dimensional supramolecular Kondo lattice.

Jan Girovsky
Jan Nowakowski
Nirmalya Ballav
ResearchOpen Access22 May 2017
Nature Communications

Volume: 8, P: 1-8
Biodiversity impacts of the 2019–2020 Australian megafires

Data collected from more than 2,000 taxa provide an unparalleled opportunity to quantify how extreme wildfires affect biodiversity, revealing that the largest effects on plants and animals were in areas with frequent or recent past fires and within extensively burnt areas.

Don A. Driscoll
Kristina J. Macdonald
Ryan D. Phillips
ResearchOpen Access13 Nov 2024
Nature

Volume: 635, P: 898-905
Combinatorial profiling of chromatin binding modules reveals multisite discrimination

Profiling of a combinatorial library of post-translationally modified histone H3–based peptides reveals that Thr3 phosphorylation, Arg2 methylation and Thr6 phosphorylation can modulate recognition of Lys4 methylation status by PHD fingers. Additionally, Thr6 phosphorylation, a previously undescribed modification, is shown to exist in native histones.

Adam L Garske
Samuel S Oliver
John M Denu
Research28 Feb 2010
Nature Chemical Biology

Volume: 6, P: 283-290
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Steve Brown and colleagues report an analysis of 20 phenotyping tests, including 413 data parameters, across 449 mutant mouse alleles. They identify widespread pleiotropy and assign putative functions to genes that lacked previous phenotypic annotation.

Martin Hrabě de Angelis
George Nicholson
Steve D M Brown
Research27 Jul 2015
Nature Genetics

Volume: 47, P: 969-978
Mice adaptively generate choice variability in a deterministic task

Marwen Belkaid et al. develop a deterministic task to study variability in decision-making processes. They show that mice embrace behavioral variability as an effective decision-making strategy, highlighting the brain’s ability to generate random decisions independently from the environment statistics.

Marwen Belkaid
Elise Bousseyrol
Philippe Faure
ResearchOpen Access21 Jan 2020
Communications Biology

Volume: 3, P: 1-9
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Camille Engel
Stéphanie Valence
Juliette Piard
Research21 Jun 2023
European Journal of Human Genetics

Volume: 31, P: 1023-1031
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak
Jaya Punetha
Heiko Reutter
ResearchOpen Access30 May 2021
Genetics in Medicine

Volume: 23, P: 1715-1725

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Long-range ferrimagnetic order in a two-dimensional supramolecular Kondo lattice

Biodiversity impacts of the 2019–2020 Australian megafires

Combinatorial profiling of chromatin binding modules reveals multisite discrimination

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Mice adaptively generate choice variability in a deterministic task

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

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