Nature Search

Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS

Liquid biopsies allow the non-invasive detection of somatic mutations from tumours. Here, the authors develop and test MSK-ACCESS, an NGS-based clinical assay for identifying low frequency mutations in 129 genes and describe how it benefits patients in the clinic.

A. Rose Brannon
Gowtham Jayakumaran
Ryma Benayed
ResearchOpen Access18 Jun 2021
Nature Communications

Volume: 12, P: 1-12
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

A multi-ancestry genome-wide association study of prostate cancer performed in 156,319 cases and 788,443 controls identifies 187 novel risk variants associated with the disease. Genetic risk scores associated with overall risk, and risk of aggressive disease in men of African ancestry.

Anqi Wang
Jiayi Shen
Christopher A. Haiman
Research09 Nov 2023
Nature Genetics

Volume: 55, P: 2065-2074
Association of HPV42 with digital papillary adenocarcinoma and the use of in situ hybridization for its distinction from acral hidradenoma and diagnosis at non-acral sites

Chad Vanderbilt
Thomas Brenn
Klaus J. Busam
Research10 May 2022
Modern Pathology

Volume: 35, P: 1405-1410
Cell-based versus corticosteroid injections for knee pain in osteoarthritis: a randomized phase 3 trial

The multicenter phase 3 trial of stem cell therapy for osteoarthritis (MILES) for knee pain revealed that cell therapies showed no significant difference in knee pain outcomes, compared to corticosteroid injections, 1 year following treatment.

Ken Mautner
Michael Gottschalk
Hicham Drissi
ResearchOpen Access02 Nov 2023
Nature Medicine

Volume: 29, P: 3120-3126
Tumour angiogenesis regulation by the miR-200 family

The microRNA-200 family members have a role in regulating tumour angiogenesis but the underlying mechanism is unclear. In this study, Pecot et al.demonstrate that miR-200 affects angiogenesis by altering endothelial and cancer cell cytokine secretion.

Chad V. Pecot
Rajesha Rupaimoole
Anil K. Sood
Research10 Sept 2013
Nature Communications

Volume: 4, P: 1-14
A hot-Jupiter progenitor on a super-eccentric retrograde orbit

The spectroscopic and photometric observations of a high-mass, transiting warm Jupiter, TIC 241249530 b, with an orbital eccentricity of 0.94, provide evidence that hot Jupiters may have formed by means of a high-eccentricity tidal-migration pathway.

Arvind F. Gupta
Sarah C. Millholland
Carl Ziegler
ResearchOpen Access17 Jul 2024
Nature

Volume: 632, P: 50-54
Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers

Yuan Yuan
Young Seok Ju
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Genetics

Volume: 55, P: 1078
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.

Bo Yang
Wei Zhou
Cristen J. Willer
ResearchOpen Access25 May 2017
Nature Communications

Volume: 8, P: 1-10
Comprehensive genomic characterization of squamous cell lung cancers

Comprehensive analyses of 178 lung squamous cell carcinomas by The Cancer Genome Atlas project show that the tumour type is characterized by complex genomic alterations, with statistically recurrent mutations in 11 genes, including TP53 in nearly all samples; a potential therapeutic target is identified in most of the samples studied.

Peter S. Hammerman
Michael S. Lawrence
Matthew Meyerson
ResearchOpen Access09 Sept 2012
Nature

Volume: 489, P: 519-525
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.

Isidro Cortés-Ciriano
Jake June-Koo Lee
Christian von Mering
ResearchOpen Access05 Feb 2020
Nature Genetics

Volume: 52, P: 331-341
Butler enables rapid cloud-based analysis of thousands of human genomes

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

Sergei Yakneen
Sebastian M. Waszak
Christian von Mering
ResearchOpen Access05 Feb 2020
Nature Biotechnology

Volume: 38, P: 288-292
Solid-state NMR structure of a pathogenic fibril of full-length human α-synuclein

α-synuclein amyloid fibrils are associated with Parkinson's disease. SSNMR analyses now reveal the atomic structure of a pathogenic human α-synuclein fibril, providing a framework for understanding fibril nucleation, propagation and interactions with small molecules.

Marcus D Tuttle
Gemma Comellas
Chad M Rienstra
Research28 Mar 2016
Nature Structural & Molecular Biology

Volume: 23, P: 409-415
Exome-wide association study of plasma lipids in >300,000 individuals

Exome-wide genetic analysis on >300,000 individuals identifies associations with plasma lipid traits. Loci significantly associated with cholesterol and triglycerides are examined together to determine the effects of alleles on type 2 diabetes and coronary artery disease risk.

Dajiang J Liu
Gina M Peloso
Sekar Kathiresan
Research30 Oct 2017
Nature Genetics

Volume: 49, P: 1758-1766
Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins
Harrison Brand
Michael E. Talkowski
Amendments and CorrectionsOpen Access03 Feb 2021
Nature

Volume: 590, P: E55
Volume of subcortical brain regions in social anxiety disorder: mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group

Nynke A. Groenewold
Janna Marie Bas-Hoogendam
Nic J. A. Van der Wee
Research19 Jan 2023
Molecular Psychiatry

Volume: 28, P: 1079-1089
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alterations.

Alyssa L. Kennedy
Kasiani C. Myers
R. Coleman Lindsley
ResearchOpen Access26 Feb 2021
Nature Communications

Volume: 12, P: 1-15
2′-OMe-phosphorodithioate-modified siRNAs show increased loading into the RISC complex and enhanced anti-tumour activity

Short interfering siRNAs—siRNAs—have therapeutic potential in the treatment of disease; however, their delivery to target tissues is difficult. Here, Wu et al. chemically modify siRNAs and show that this improves loading into the siRNA silencing machinery and thus efficacy in eliminating cancer cells in mice.

Sherry Y. Wu
Xianbin Yang
Anil K. Sood
Research12 Mar 2014
Nature Communications

Volume: 5, P: 1-12
Brain-based classification of youth with anxiety disorders: transdiagnostic examinations within the ENIGMA-Anxiety database using machine learning

The study performed on a large, heterogeneous and multisite sample of youth with anxiety disorders reveals that only modest classification performances can be realistically achieved with machine learning using neuroanatomical data.

Willem B. Bruin
Paul Zhutovsky
Moji Aghajani
Research10 Jan 2024
Nature Mental Health

Volume: 2, P: 104-118
Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade

In a retrospective analysis of patients with Lynch syndrome and primary cancers treated with immune checkpoint inhibitors, 12% developed subsequent malignancies, suggesting that this treatment may not eliminate risk in individuals predisposed to mismatch repair-deficient cancers, and ongoing surveillance is warranted.

Emily C. Harrold
Michael B. Foote
Zsofia K. Stadler
Research16 Oct 2023
Nature Medicine

Volume: 29, P: 2458-2463
A symptom-based approach to pharmacologic management of fibromyalgia

In the context of a multidisciplinary approach to the management of fibromyalgia, guidelines recommend that pharmacologic therapies be individually tailored to a patient's symptoms but do not offer a method of assessment. In this Review, the authors provide a rapid, easily-remembered framework for the quantitation and pharmacologic management of symptoms that is suitable for use in a busy clinical practice.

Chad S. Boomershine
Leslie J. Crofford
Reviews01 Apr 2009
Nature Reviews Rheumatology

Volume: 5, P: 191-199
Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Eileen O. Dareng
Jonathan P. Tyrer
Paul D. P. Pharoah
ResearchOpen Access14 Jan 2022
European Journal of Human Genetics

Volume: 30, P: 349-362
Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Kadir C. Akdemir
Victoria T. Le
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Genetics

Volume: 55, P: 1079
Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes

Sergei Yakneen
Sebastian M. Waszak
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Biotechnology

Volume: 41, P: 577
Author Correction: The landscape of viral associations in human cancers

Marc Zapatka
Ivan Borozan
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Genetics

Volume: 55, P: 1077
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Bernardo Rodriguez-Martin
Eva G. Alvarez
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Genetics

Volume: 55, P: 1080
Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Isidro Cortés-Ciriano
Jake June-Koo Lee
Christian von Mering
Amendments and CorrectionsOpen Access21 Mar 2023
Nature Genetics

Volume: 55, P: 1076
Genomic characterization of tumor mutational burden-high breast carcinomas

Theodore Vougiouklakis
Chad Vanderbilt
Dara S. Ross
ResearchOpen Access08 Aug 2025
npj Precision Oncology

Volume: 9, P: 1-11
Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Esther Rheinbay
Morten Muhlig Nielsen
Christian von Mering
Amendments and CorrectionsOpen Access25 Jan 2023
Nature

Volume: 614, P: E40
Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig

Yulia Rubanova
Ruian Shi
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower

Shimin Shuai
Federico Abascal
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours

Vinayak Bhandari
Constance H. Li
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes

Matthew A. Reyna
David Haan
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Pan-cancer analysis of whole genomes

Lauri A. Aaltonen
Federico Abascal
Christian von Mering
Amendments and CorrectionsOpen Access25 Jan 2023
Nature

Volume: 614, P: E39
Author Correction: The repertoire of mutational signatures in human cancer

Ludmil B. Alexandrov
Jaegil Kim
Christian von Mering
Amendments and CorrectionsOpen Access25 Jan 2023
Nature

Volume: 614, P: E41
Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer

Lina Sieverling
Chen Hong
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Integrative pathway enrichment analysis of multivariate omics data

Marta Paczkowska
Jonathan Barenboim
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Inferring structural variant cancer cell fraction

Marek Cmero
Ke Yuan
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: The evolutionary history of 2,658 cancers

Moritz Gerstung
Clemency Jolly
Christian von Mering
Amendments and CorrectionsOpen Access25 Jan 2023
Nature

Volume: 614, P: E42
Author Correction: Patterns of somatic structural variation in human cancer genomes

Yilong Li
Nicola D. Roberts
Christian von Mering
Amendments and CorrectionsOpen Access25 Jan 2023
Nature

Volume: 614, P: E38
Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

Wei Jiao
Gurnit Atwal
Christian von Mering
Amendments and CorrectionsOpen Access08 Dec 2022
Nature Communications

Volume: 13, P: 1
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Matthew H. Bailey
William U. Meyerson
Christian von Mering
Amendments and CorrectionsOpen Access30 Nov 2020
Nature Communications

Volume: 11, P: 1
Combined Antiretroviral Therapy Causes Cardiomyopathy and Elevates Plasma Lactate in Transgenic AIDS Mice

William Lewis
Chad P Haase
Allen M Samarel
Research01 Nov 2001
Laboratory Investigation

Volume: 81, P: 1527-1536
Myxoid pleomorphic liposarcoma is distinguished from other liposarcomas by widespread loss of heterozygosity and significantly worse overall survival: a genomic and clinicopathologic study

Josephine K. Dermawan
Sinchun Hwang
Cristina R. Antonescu
Research07 Jun 2022
Modern Pathology

Volume: 35, P: 1644-1655
Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans

Phytophthora infestans is a fungus-like eukaryote and the most destructive pathogen of potato, with current annual worldwide potato crop losses due to late blight estimated at $6.7 billion. Here, the sequence of the P. infestans genome is reported. Comparison with two other Phytophthora genomes showed rapid turnover and extensive expansion of certain secreted disease effector proteins, probably explaining the rapid adaptability of the pathogen to host plants.

Brian J. Haas
Sophien Kamoun
Chad Nusbaum
ResearchOpen Access09 Sept 2009
Nature

Volume: 461, P: 393-398
Genomic landscape of endometrial carcinomas of no specific molecular profile

Amir Momeni-Boroujeni
Bastien Nguyen
Robert A. Soslow
Research01 Apr 2022
Modern Pathology

Volume: 35, P: 1269-1278
Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Liang-Yu Huang
Chen-Chen Tan
Dariella Fernandez
ResearchOpen Access08 Jul 2025
Translational Psychiatry

Volume: 15, P: 1-11
Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

David V. Conti
Burcu F. Darst
Christopher A. Haiman
Amendments and Corrections20 Jan 2021
Nature Genetics

Volume: 53, P: 413
Microduplications of 16p11.2 are associated with schizophrenia

Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders.

Shane E McCarthy
Vladimir Makarov
Jonathan Sebat
Research25 Oct 2009
Nature Genetics

Volume: 41, P: 1223-1227
Antibiotics are associated with worse outcomes in lung cancer patients treated with chemotherapy and immunotherapy

Arielle Elkrief
Eder Orlando Méndez-Salazar
Adam J. Schoenfeld
ResearchOpen Access16 Jul 2024
npj Precision Oncology

Volume: 8, P: 1-9
Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations

Higinio Dopeso
Andrea M. Gazzo
Jorge S. Reis-Filho
ResearchOpen Access12 Feb 2024
npj Precision Oncology

Volume: 8, P: 1-11

Search

Filter By:

Search

Quick links