Nature Search

Author Correction: Computational tools for genomic data de-identification: facilitating data protection law compliance

Alexander Bernier
Hanshi Liu
Bartha Maria Knoppers
Amendments and CorrectionsOpen Access13 Jan 2022
Nature Communications

Volume: 13, P: 1
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

Hui Guo
Elisa Bettella
Evan E. Eichler
ResearchOpen Access15 Oct 2019
Nature Communications

Volume: 10, P: 1-17
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social and communication skills. Accumulating evidence suggests a genetic component to ASDs, and here a two-stage, genome-wide approach is used to identify candidate genomic loci enriched in ASD cases. The majority of these loci are found to be involved in neuronal adhesion and ubiquitin degradation, suggesting novel susceptibility mechanisms.

Joseph T. Glessner
Kai Wang
Hakon Hakonarson
Research28 Apr 2009
Nature

Volume: 459, P: 569-573
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Weaker neural suppression in autism

Sensory hypersensitivity is common in autism spectrum disorders. Using functional MRI, psychophysics, and computational modeling, Schallmo et al. show that differences in visual motion perception in ASD are accompanied by weaker neural suppression in visual cortex.

Michael-Paul Schallmo
Tamar Kolodny
Scott O. Murray
ResearchOpen Access29 May 2020
Nature Communications

Volume: 11, P: 1-13
Structural models of genome-wide covariance identify multiple common dimensions in autism

Studying individuals with autism only, this study investigated the genomic architecture of autism-related phenotypes using a multivariate modelling framework. This work identified distinct genomic factors linked to language performance, behaviour and developmental motor delay.

Lucía de Hoyos
Maria T. Barendse
Beate St Pourcain
ResearchOpen Access27 Feb 2024
Nature Communications

Volume: 15, P: 1-15
The commitment of the human cell atlas to humanity

The Human Cell Atlas (HCA) aims to characterize cells from diverse individuals across the globe to better understand human biology. Here, the authors lay out principles and action items that have been adopted to affirm HCA’s commitment to equity so that the atlas is beneficial to all of humanity.

Ido Amit
Kristin Ardlie
Xiaowei Zhuang
ReviewsOpen Access20 Nov 2024
Nature Communications

Volume: 15, P: 1-7
Computational tools for genomic data de-identification: facilitating data protection law compliance

In this opinion piece, we discuss why computational tools to limit the identifiability of genomic data are a promising avenue for privacy-preservation and legal compliance. Even where these technologies do not eliminate all residual risk of individual identification, the law may still consider such data anonymised.

Alexander Bernier
Hanshi Liu
Bartha Maria Knoppers
Comments & OpinionOpen Access29 Nov 2021
Nature Communications

Volume: 12, P: 1-3
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

An integrated analysis of de novo and inherited coding variants in 42,607 individuals with autism spectrum disorder identifies 60 risk genes of which five have not previously been associated with neurodevelopmental disorders.

Xueya Zhou
Pamela Feliciano
Wendy K. Chung
ResearchOpen Access18 Aug 2022
Nature Genetics

Volume: 54, P: 1305-1319
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Alexander J. M. Dingemans
Kim M. G. Truijen
Bert B. A. de Vries
ResearchOpen Access01 Oct 2022
Translational Psychiatry

Volume: 12, P: 1-11
Genomic analyses implicate noncoding de novo variants in congenital heart disease

Computational analyses integrating whole-genome sequencing, cardiac epigenomic data and RNA-binding-protein data identify a role for noncoding de novo mutations in congenital heart disease.

Felix Richter
Sarah U. Morton
Bruce D. Gelb
Research29 Jun 2020
Nature Genetics

Volume: 52, P: 769-777
Data sharing ethics toolkit: The Human Cell Atlas

The human cell atlas (HCA) is intended as an exhaustive guidebook of human cell types and their properties. Here Kirby et al. outline how the HCA Ethics Working Group is working to build a solid foundation to address the complexities of data collection and sharing.

Emily Kirby
Alexander Bernier
Bartha M. Knoppers
ReviewsOpen Access20 Nov 2024
Nature Communications

Volume: 15, P: 1-7
Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

A randomized trial in patients hospitalized with COVID-19 showed no benefit and potentially increased harm associated with the use of convalescent plasma, with subgroup analyses suggesting that the antibody profile in donor plasma is critical in determining clinical outcomes.

Philippe Bégin
Jeannie Callum
Donald M. Arnold
ResearchOpen Access09 Sept 2021
Nature Medicine

Volume: 27, P: 2012-2024
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

The autism spectrum disorders are complex genetic traits characterized by various neurodevelopmental deficits. Here, the authors analyse defective gene family interaction networks in autism cases and healthy controls and identify potential gene family interactions that may contribute to autism aetiology.

Dexter Hadley
Zhi-liang Wu
Hakon Hakonarson
ResearchOpen Access13 Jun 2014
Nature Communications

Volume: 5, P: 1-10
Genetic correlates of phenotypic heterogeneity in autism

Comprehensive factor analysis of core diagnostic features provides insights into the complex genetic architecture underlying phenotypic heterogeneity in autism.

Varun Warrier
Xinhe Zhang
Simon Baron-Cohen
ResearchOpen Access02 Jun 2022
Nature Genetics

Volume: 54, P: 1293-1304
Getting your DUCs in a row - standardising the representation of Digital Use Conditions

Francis Jeanson
Spencer J. Gibson
Anthony J. Brookes
ResearchOpen Access08 May 2024
Scientific Data

Volume: 11, P: 1-10
Common conditions of use elements. Atomic concepts for consistent and effective information governance

Maria del Carmen Sanchez Gonzalez
Pim Kamerling
Anthony J. Brookes
ResearchOpen Access08 May 2024
Scientific Data

Volume: 11, P: 1-9
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory

Alexander Bernier
Fruzsina Molnár-Gábor
Lauren Maxwell
ResearchOpen Access15 Jun 2023
European Journal of Human Genetics

Volume: 32, P: 69-76
A genomic catalog of Earth’s microbiomes

Cataloging microbial genomes from Earth’s environments expands the known phylogenetic diversity of bacteria and archaea.

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
ResearchOpen Access09 Nov 2020
Nature Biotechnology

Volume: 39, P: 499-509
1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

Jean Xavier
Bo Zhou
Claudine Laurent-Levinson
ResearchOpen Access22 Aug 2018
npj Genomic Medicine

Volume: 3, P: 1-6
International transfers of personal data for health research following Schrems II: a problem in need of a solution

Dara Hallinan
Alexander Bernier
Stéphanie Rennes
ResearchOpen Access06 May 2021
European Journal of Human Genetics

Volume: 29, P: 1502-1509
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

In an effort by several research groups, a genome-wide RNAi-based screen presents a list of validated genes involved in cilia assembly and maintenance, and reveals previously unidentified ciliopathy factors.

Gabrielle Wheway
Miriam Schmidts
Colin A. Johnson
Research13 Jul 2015
Nature Cell Biology

Volume: 17, P: 1074-1087
Reply to: Concerns about estimating relative risk of death associated with convalescent plasma for COVID-19

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Research10 Jan 2022
Nature Medicine

Volume: 28, P: 53-58
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen
Alexander Hoischen
Bert B. A. de Vries
Research05 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 54-63
Author Correction: Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Amendments and CorrectionsOpen Access12 Jan 2022
Nature Medicine

Volume: 28, P: 212
Author Correction: A genomic catalog of Earth’s microbiomes

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
Amendments and CorrectionsOpen Access01 Apr 2021
Nature Biotechnology

Volume: 39, P: 521
Publisher Correction: A genomic catalog of Earth’s microbiomes

Stephen Nayfach
Simon Roux
Emiley A. Eloe-Fadrosh
Amendments and CorrectionsOpen Access18 Nov 2020
Nature Biotechnology

Volume: 39, P: 520
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.

Daniel J Weiner
Emilie M Wigdor
Elise B Robinson
Research15 May 2017
Nature Genetics

Volume: 49, P: 978-985
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Pamela Feliciano
Xueya Zhou
Wendy K. Chung
ResearchOpen Access23 Aug 2019
npj Genomic Medicine

Volume: 4, P: 1-14
Occupational radiation exposure and glaucoma and macular degeneration in the US radiologic technologists

Mark P. Little
Cari M. Kitahara
Nobuyuki Hamada
ResearchOpen Access11 Jul 2018
Scientific Reports

Volume: 8, P: 1-9
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Dorien Lugtenberg
Margot R F Reijnders
Lisenka E L M Vissers
Research13 Jan 2016
European Journal of Human Genetics

Volume: 24, P: 1145-1153
Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance

Schumann et al. demonstrate that the loss of a lactate transporter Slc16a13 increases mitochondrial respiration in the liver, which reduces hepatic lipid accumulation while increasing hepatic insulin sensitivity in mice fed a high-fat diet. This study suggests SLC16A13 as a potential target for the treatment of type 2 diabetes and non-alcoholic fatty liver disease.

Tina Schumann
Jörg König
Andreas L. Birkenfeld
ResearchOpen Access01 Jul 2021
Communications Biology

Volume: 4, P: 1-17
A monoclinic semiorganic molecular crystal GUHP for terahertz photonics and optoelectronics

Anton Sinko
Peter Solyankin
Alexander Shkurinov
ResearchOpen Access06 Dec 2021
Scientific Reports

Volume: 11, P: 1-13
Publisher Correction: Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance

Tina Schumann
Jörg König
Andreas L. Birkenfeld
Amendments and CorrectionsOpen Access14 Jul 2021
Communications Biology

Volume: 4, P: 1

Search

Author Correction: Computational tools for genomic data de-identification: facilitating data protection law compliance

A second update on mapping the human genetic architecture of COVID-19

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Weaker neural suppression in autism

Structural models of genome-wide covariance identify multiple common dimensions in autism

The commitment of the human cell atlas to humanity

Computational tools for genomic data de-identification: facilitating data protection law compliance

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Data sharing ethics toolkit: The Human Cell Atlas

Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Genetic correlates of phenotypic heterogeneity in autism

Getting your DUCs in a row - standardising the representation of Digital Use Conditions

Common conditions of use elements. Atomic concepts for consistent and effective information governance

Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory

A genomic catalog of Earth’s microbiomes

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

International transfers of personal data for health research following Schrems II: a problem in need of a solution

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Reply to: Concerns about estimating relative risk of death associated with convalescent plasma for COVID-19

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Author Correction: Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

Author Correction: A genomic catalog of Earth’s microbiomes

Publisher Correction: A genomic catalog of Earth’s microbiomes

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Occupational radiation exposure and glaucoma and macular degeneration in the US radiologic technologists

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance

A monoclinic semiorganic molecular crystal GUHP for terahertz photonics and optoelectronics

Publisher Correction: Deletion of the diabetes candidate gene Slc16a13 in mice attenuates diet-induced ectopic lipid accumulation and insulin resistance

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