Nature Search

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Publisher Correction: ROCK-mediated selective activation of PERK signalling causes fibroblast reprogramming and tumour progression through a CRELD2-dependent mechanism

Sarah Theresa Boyle
Valentina Poltavets
Michael Susithiran Samuel
Amendments and Corrections04 Jun 2020
Nature Cell Biology

Volume: 22, P: 908
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Simultaneous profiling of the genome, methylome, epigenome and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molecular basis of an undiagnosed Mendelian disease case with an X;13-balanced translocation.

Mitchell R. Vollger
Jonas Korlach
Andrew B. Stergachis
Research29 Jan 2025
Nature Genetics

Volume: 57, P: 469-479
ROCK-mediated selective activation of PERK signalling causes fibroblast reprogramming and tumour progression through a CRELD2-dependent mechanism

Boyle et al. show that ROCK upregulates PERK signalling in epithelia of breast cancer, thereby enhancing recruitment and function of cancer-associated fibroblasts through CRELD2 to promote tumourigenesis.

Sarah Theresa Boyle
Valentina Poltavets
Michael Susithiran Samuel
Research25 May 2020
Nature Cell Biology

Volume: 22, P: 882-895
Autophagy receptor NDP52 alters DNA conformation to modulate RNA polymerase II transcription

An autophagy receptor, NDP52, is recruited to the nucleus where it can bind DNA. The authors show this promotes changes in chromatin accessibility which supports transcription initiation, providing a direct link between autophagy and transcription regulation.

Ália dos Santos
Daniel E. Rollins
Christopher P. Toseland
ResearchOpen Access18 May 2023
Nature Communications

Volume: 14, P: 1-24
Role of the V2R–βarrestin–Gβγ complex in promoting G protein translocation to endosomes

A V2R–βarrestin–Gβγ complex forms at the plasma membrane and translocates to endosomes. This sheds light on G protein subunit translocation and βarr’s role in sustained signaling.

Badr Sokrat
Anthony H. Nguyen
Michel Bouvier
ResearchOpen Access07 Jul 2024
Communications Biology

Volume: 7, P: 1-14
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
AusTraits, a curated plant trait database for the Australian flora

Daniel Falster
Rachael Gallagher
Kasia Ziemińska
ResearchOpen Access30 Sept 2021
Scientific Data

Volume: 8, P: 1-20
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467

Search

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Publisher Correction: ROCK-mediated selective activation of PERK signalling causes fibroblast reprogramming and tumour progression through a CRELD2-dependent mechanism

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

ROCK-mediated selective activation of PERK signalling causes fibroblast reprogramming and tumour progression through a CRELD2-dependent mechanism

Autophagy receptor NDP52 alters DNA conformation to modulate RNA polymerase II transcription

Role of the V2R–βarrestin–Gβγ complex in promoting G protein translocation to endosomes

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

AusTraits, a curated plant trait database for the Australian flora

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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