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
Author Correction: CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors

Ferdinandos Skoulidis
Haniel A. Araujo
John V. Heymach
Amendments and CorrectionsOpen Access27 Feb 2025
Nature

Volume: 639, P: E19
CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors

Alterations in the tumour suppressor genes STK11 and/or KEAP1 can identify patients with advanced non-small-cell lung cancer who are likely to benefit from combinations of PD-(L)1 and CTLA4 immune checkpoint inhibitors added to chemotherapy.

Ferdinandos Skoulidis
Haniel A. Araujo
John V. Heymach
ResearchOpen Access09 Oct 2024
Nature

Volume: 635, P: 462-471
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Yuyang Chen
Ruebena Dawes
Nicola Whiffin
ResearchOpen Access11 Jul 2024
Nature

Volume: 632, P: 832-840
Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

Timothy J. Aitman
Takanari Gotoda
James Scott
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 197-201
Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer

Genomic and transcriptomic analysis of 393 non-small cell lung cancer patients treated with checkpoint inhibitors identifies molecular features associated with response.

Arvind Ravi
Matthew D. Hellmann
Justin F. Gainor
ResearchOpen Access06 Apr 2023
Nature Genetics

Volume: 55, P: 807-819
Focal adhesion kinase-YAP signaling axis drives drug-tolerant persister cells and residual disease in lung cancer

Remaining drug-tolerant persistent (DTP) cancer cells limit the efficacy of targeted therapy in EGFR, ALK and KRAS mutant non-small cell lung cancer (NSCLC). Here, the authors show that focal adhesion kinase (FAK)-YAP signalling supports DTP cells promoting residual disease and targeting this pathway improved tumour response in NSCLC preclinical models.

Franziska Haderk
Yu-Ting Chou
Trever G. Bivona
ResearchOpen Access03 May 2024
Nature Communications

Volume: 15, P: 1-19
Author Correction: 3-Phosphoinositide-dependent kinase 1 drives acquired resistance to osimertinib

Ismail M. Meraz
Mourad Majidi
Jack A. Roth
Amendments and CorrectionsOpen Access06 Jun 2023
Communications Biology

Volume: 6, P: 1
Atezolizumab plus stereotactic ablative radiotherapy for medically inoperable patients with early-stage non-small cell lung cancer: a multi-institutional phase I trial

Stereotactic ablative radiotherapy (SABR) is standard-of-care for patients with medically inoperable early-stage non-small cell lung cancer (NSCLC), however the risk of systemic recurrences remains high. Here the authors report the results of a phase I study testing the addition of atezolizumab (anti-PD-L1) to SABR in high risk, medically inoperable, early-stage, NSCLC.

Arta M. Monjazeb
Megan E. Daly
Karen Kelly
ResearchOpen Access02 Sept 2023
Nature Communications

Volume: 14, P: 1-14
Single-layer ionic conduction on carboxyl-terminated silane monolayers patterned by constructive lithography

Local oxidation of the methyl groups of self-assembled silane monolayers into carboxylic acid functional groups allows the realization of solid ion-conducting channels, on top of which single layers of metal ions can drift when a voltage is applied.

Jonathan Berson
Doron Burshtain
Jacob Sagiv
Research06 Apr 2015
Nature Materials

Volume: 14, P: 613-621
Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Analysis of copy number alterations in 1,451 patient-derived xenografts (PDXs) and matched patient tumor samples shows strong conservation from patient tumors through late-passage PDXs and a lack of systematic copy number evolution driven by the mouse host.

Xing Yi Woo
Jessica Giordano
Emilie Vinolo
ResearchOpen Access07 Jan 2021
Nature Genetics

Volume: 53, P: 86-99
Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers

Analysis of a large cohort of EGFR-mutant lung cancer cell-free DNA samples along with longitudinal samples from a patient with EGFR-mutant lung cancer identifies pathways that inhibit EGFR-inhibitor response. Co-occurring genetic alterations influence clinical outcomes and underscore the need for combination therapies.

Collin M Blakely
Thomas B K Watkins
Trever G Bivona
Research06 Nov 2017
Nature Genetics

Volume: 49, P: 1693-1704
3-Phosphoinositide-dependent kinase 1 drives acquired resistance to osimertinib

Acquired resistance to osimertinib is driven by PDK1 in preclinical models of non-small cell lung cancer and reveals PDK1 as a potential target for restoring osimertinib sensitivity.

Ismail M. Meraz
Mourad Majidi
Jack A. Roth
ResearchOpen Access11 May 2023
Communications Biology

Volume: 6, P: 1-17
RAS-MAPK dependence underlies a rational polytherapy strategy in EML4-ALK–positive lung cancer

Unraveling the signaling dependencies of EMLK4-ALK fusion–driven lung cancer reveals upfront combination therapy strategies.

Gorjan Hrustanovic
Victor Olivas
Trever G Bivona
Research24 Aug 2015
Nature Medicine

Volume: 21, P: 1038-1047
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
Author Correction: Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Xing Yi Woo
Jessica Giordano
Emilie Vinolo
Amendments and CorrectionsOpen Access19 Feb 2021
Nature Genetics

Volume: 53, P: 761
Potential roles of sex-linked differences in obesity and cancer immunotherapy: revisiting the obesity paradox

Logan V. Vick
Spencer Rosario
William J. Murphy
ReviewsOpen Access23 May 2024
npj Metabolic Health and Disease

Volume: 2, P: 1-12

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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

Author Correction: CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors

CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitors

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer

Focal adhesion kinase-YAP signaling axis drives drug-tolerant persister cells and residual disease in lung cancer

Author Correction: 3-Phosphoinositide-dependent kinase 1 drives acquired resistance to osimertinib

Atezolizumab plus stereotactic ablative radiotherapy for medically inoperable patients with early-stage non-small cell lung cancer: a multi-institutional phase I trial

Single-layer ionic conduction on carboxyl-terminated silane monolayers patterned by constructive lithography

Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancers

3-Phosphoinositide-dependent kinase 1 drives acquired resistance to osimertinib

RAS-MAPK dependence underlies a rational polytherapy strategy in EML4-ALK–positive lung cancer

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

Author Correction: Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

Potential roles of sex-linked differences in obesity and cancer immunotherapy: revisiting the obesity paradox

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