Nature Search

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie
Wouter Steyaert
Alexander Hoischen
Amendments and CorrectionsOpen Access19 Jun 2025
Nature Medicine

P: 1-2
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data coupled with expert panel review, leading to 500 new diagnoses in a cohort of 6,000 families with suspected rare diseases.

Steven Laurie
Wouter Steyaert
Alexander Hoischen
ResearchOpen Access17 Jan 2025
Nature Medicine

Volume: 31, P: 478-489
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen
Michaela Auer-Grumbach
Jan Senderek
Amendments and Corrections29 Jul 2015
Nature Genetics

Volume: 47, P: 962
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth and Christian Hübner report the identification of loss-of-function mutations in FAM134B, which encodes a novel cis-Golgi protein, in hereditary sensory and autonomic neuropathy type II.

Ingo Kurth
Torsten Pamminger
Christian A Hübner
Research18 Oct 2009
Nature Genetics

Volume: 41, P: 1179-1181
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.

Magdalena Zimoń
Jonathan Baets
Albena Jordanova
Research09 Sept 2012
Nature Genetics

Volume: 44, P: 1080-1083
Potential carbon emissions dominated by carbon dioxide from thawed permafrost soils

A meta-analysis of soil incubation studies from the permafrost zone suggests that thawing under aerobic conditions, which releases CO₂, will strengthen the permafrost carbon feedback more than waterlogged systems, which releases CO₂ and CH₄.

Christina Schädel
Martin K.-F. Bader
Kimberly P. Wickland
Research13 Jun 2016
Nature Climate Change

Volume: 6, P: 950-953
Mechanisms of disease in hereditary sensory and autonomic neuropathies

Understanding the genetic mutations that cause hereditary sensory and autonomic neuropathies (HSANs) is crucial to identify new therapeutic targets for patients with these neurodegenerative diseases. Rotthier et al. review the currently known genetics of the HSANs, discussing the new findings that provide insights into the mechanisms of disease and highlighting how these discoveries could improve treatment for patients with these diseases.

Annelies Rotthier
Jonathan Baets
Katrien Janssens
Reviews24 Jan 2012
Nature Reviews Neurology

Volume: 8, P: 73-85
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Ingo Kurth and colleagues show that a specific de novo missense mutation in SCN11A results in an inability to experience pain. They further show that mutant channels display higher activity at resting voltages, causing sustained depolarization of pain receptors, impaired generation of action potentials and aberrant synaptic transmission.

Enrico Leipold
Lutz Liebmann
Ingo Kurth
Research15 Sept 2013
Nature Genetics

Volume: 45, P: 1399-1404
Transcriptional regulator PRDM12 is essential for human pain perception

Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and participates in sensory neuron development in Xenopus.

Ya-Chun Chen
Michaela Auer-Grumbach
Jan Senderek
Research25 May 2015
Nature Genetics

Volume: 47, P: 803-808
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Ana Töpf
Angela Pyle
Rita Horvath
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1348-1353
Genetic pain loss disorders

Genetic pain loss disorders are a heterogeneous group of diseases that are characterized by reduced pain sensation. This Primer discusses the epidemiology, pathophysiology, diagnosis and treatment of these disorders.

Annette Lischka
Petra Lassuthova
Ingo Kurth
Reviews16 Jun 2022
Nature Reviews Disease Primers

Volume: 8, P: 1-23
Vitamin D₃ deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

Sabrina Ehnert
Stefan Hauser
Tim W. Rattay
ResearchOpen Access27 Mar 2024
Scientific Reports

Volume: 14, P: 1-9
A community effort to assess and improve drug sensitivity prediction algorithms

A community of researchers report the lessons learned from applying 44 algorithms to predict drug sensitivity in cancer cell lines using genomic, epigenetic and proteomic datasets

James C Costello
Laura M Heiser
Gustavo Stolovitzky
Research01 Jun 2014
Nature Biotechnology

Volume: 32, P: 1202-1212
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Matthis Synofzik
Katherine L. Helbig
Rebecca Schüle
Research20 Jun 2018
European Journal of Human Genetics

Volume: 26, P: 1623-1634
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Madalina Raducu
Jonathan Baets
Jesús Cruces
Research14 Mar 2012
European Journal of Human Genetics

Volume: 20, P: 945-952
Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
ReviewsOpen Access10 May 2021
European Journal of Human Genetics

Volume: 29, P: 1332-1336
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf
Katherine Johnson
Volker Straub
ResearchOpen Access11 Jun 2020
Genetics in Medicine

Volume: 22, P: 1478-1488
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
ReviewsOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1325-1331

Search

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Potential carbon emissions dominated by carbon dioxide from thawed permafrost soils

Mechanisms of disease in hereditary sensory and autonomic neuropathies

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Transcriptional regulator PRDM12 is essential for human pain perception

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Genetic pain loss disorders

Vitamin D₃ deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

A community effort to assess and improve drug sensitivity prediction algorithms

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Search

Quick links

Search

Filter By:

Search

Quick links