Nature Search

Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases

Paloma Jordà
Yiwei Lai
Rafik Tadros
ResearchOpen Access29 Sept 2025
npj Genomic Medicine

Volume: 10, P: 1-22
Contact Angles for Thin Lipid Films and the Determination of London-van der Waals Forces

D. A. HAYDON
J. L. TAYLOR
Research24 Feb 1968
Nature

Volume: 217, P: 739-740
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Genome-wide and multitrait analyses identify novel loci associated with hypertrophic cardiomyopathy and relevant left ventricular traits. Gene-level burden analyses show that rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy.

Rafik Tadros
Sean L. Zheng
Hugh Watkins
ResearchOpen Access18 Feb 2025
Nature Genetics

Volume: 57, P: 530-538
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Seung Hoan Choi
Sean J. Jurgens
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 548-562
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Genome-wide association analyses identify 12 susceptibility loci for hypertrophic cardiomyopathy (HCM). A genetic risk score for HCM was associated with disease status in a validation study and influenced phenotypic severity in carriers of risk variants in sarcomere genes.

Andrew R. Harper
Anuj Goel
Hugh Watkins
Research25 Jan 2021
Nature Genetics

Volume: 53, P: 135-142
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Genome-wide analyses identify multiple loci associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular (LV) traits. Cardiomyopathies exhibit strong genetic correlations with LV traits, with opposing effects in HCM and DCM.

Rafik Tadros
Catherine Francis
Connie R. Bezzina
Research25 Jan 2021
Nature Genetics

Volume: 53, P: 128-134
Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Dimethyl fumarate (DMF) is an anti-inflammatory drug proposed as a treatment for COVID19. Here the results are reported from a randomised trial testing DMF treatment in 713 patients hospitalised with COVID-19. DMF was not associated with any improvement in day 5 outcomes.

Peter Sandercock
Janet Darbyshire
Martin J. Landray
ResearchOpen Access31 Jan 2024
Nature Communications

Volume: 15, P: 1-13
Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2

Choi et al. find that KLHL6, which is mutated in diffuse large B-cell lymphoma, is part of a ubiquitin ligase complex that targets the mRNA decay factor roquin2 for degradation and that loss of KLHL6 enhances cell survival through loss of TNFAIP3.

Jaewoo Choi
Kyutae Lee
Luca Busino
Research25 Apr 2018
Nature Cell Biology

Volume: 20, P: 586-596
Something cooking

G.D. Clarke
Books & Arts21 Feb 1985
Nature

Volume: 313, P: 717-718
Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Sean J. Jurgens
Joel T. Rämö
Connie R. Bezzina
Amendments and CorrectionsOpen Access04 Dec 2024
Nature Genetics

Volume: 56, P: 2843
Ndfip1 restricts mTORC1 signalling and glycolysis in regulatory T cells to prevent autoinflammatory disease

T regulatory (T_reg) cells are essential for maintaining immune homeostasis, but how the stability of their lineage and function is regulated is unclear. Here the authors show that Ndfip1 is essential for suppressing T_regcell IL-4 production and metabolic alteration to preserve Treg lineage and function.

Awo Akosua Kesewa Layman
Guoping Deng
Paula M. Oliver
ResearchOpen Access05 Jun 2017
Nature Communications

Volume: 8, P: 1-16
SARS-CoV-2 infection and persistence in the human body and brain at autopsy

A study reports the distribution, replication and persistence of SARS-CoV-2 throughout the human body including in the brain at autopsy from acute infection to more than seven months following symptom onset.

Sydney R. Stein
Sabrina C. Ramelli
Daniel S. Chertow
Research14 Dec 2022
Nature

Volume: 612, P: 758-763
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism.

Julien Barc
Rafik Tadros
Connie R. Bezzina
Research24 Feb 2022
Nature Genetics

Volume: 54, P: 232-239
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases

Genome-wide association meta-analyses identify more than 350 loci associated with atrial fibrillation. A polygenic score derived from these results improves atrial fibrillation risk prediction compared to published clinical and polygenic scores.

Carolina Roselli
Ida Surakka
Patrick T. Ellinor
Research06 Mar 2025
Nature Genetics

Volume: 57, P: 539-547
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Genome-wide association and multitrait analyses for dilated cardiomyopathy (DCM) using 9,365 cases and 946,368 controls provide insights into the mechanisms underlying DCM and myocardial resilience

Sean J. Jurgens
Joel T. Rämö
Connie R. Bezzina
ResearchOpen Access21 Nov 2024
Nature Genetics

Volume: 56, P: 2636-2645
Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction

Genome-wide analyses in BioBank Japan and populations of European ancestry identify new risk loci for atrial fibrillation. A polygenic risk score constructed from the cross-ancestry meta-analysis is associated with increased risk of long-term cardiovascular mortality.

Kazuo Miyazawa
Kaoru Ito
Issei Komuro
ResearchOpen Access19 Jan 2023
Nature Genetics

Volume: 55, P: 187-197
Management of congenital nasolacrimal duct obstruction in down syndrome

Daphna Landau Prat
Samuel Tadros
William R. Katowitz
Research04 Apr 2022
Eye

Volume: 37, P: 739-743
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

Najim Lahrouchi
Hariharan Raju
Elijah R. Behr
Research18 Sept 2019
European Journal of Human Genetics

Volume: 28, P: 17-22
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc
Rafik Tadros
Connie R. Bezzina
Amendments and Corrections26 Apr 2022
Nature Genetics

Volume: 54, P: 735
Nanopore long-read RNA-seq and absolute quantification delineate transcription dynamics in early embryo development of an insect pest

Anthony Bayega
Spyros Oikonomopoulos
Jiannis Ragoussis
ResearchOpen Access12 Apr 2021
Scientific Reports

Volume: 11, P: 1-14
Transcriptome analysis of rheumatoid arthritis uncovers genes linked to inflammation-induced pain

Bradford E. Hall
Khadijah Mazhar
Ashok B. Kulkarni
ResearchOpen Access29 Oct 2024
Scientific Reports

Volume: 14, P: 1-11
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Fiona Leduc
Perrine Brunelle
Clémence Vanlerberghe
ResearchOpen Access10 May 2025
European Journal of Human Genetics

P: 1-9
Cyclin D1 expression in peripheral T-cell lymphomas

Joo Y Song
Liping Song
Andrew L Feldman
Research29 Jul 2016
Modern Pathology

Volume: 29, P: 1306-1312
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh
Najim Lahrouchi
Connie R. Bezzina
ResearchOpen Access07 Sept 2020
Genetics in Medicine

Volume: 23, P: 47-58
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

Kaveh Rayani
Brianna Davies
Zachary W. M. Laksman
Research22 Sept 2022
European Journal of Human Genetics

Volume: 31, P: 512-520
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Najim Lahrouchi
Elisabeth M Lodder
Connie R Bezzina
Research15 Mar 2017
European Journal of Human Genetics

Volume: 25, P: 783-787
Secondary intraocular lens implantation following infantile cataract surgery: intraoperative indications, postoperative outcomes

K S Wood
D Tadros
M E Wilson
Research01 Jul 2016
Eye

Volume: 30, P: 1182-1186
The impact of immediate breast reconstruction on the time to delivery of adjuvant therapy: the iBRA-2 study

Rachel L O’Connell
Tim Rattay
Mohammed Mustafa
ResearchOpen Access29 Mar 2019
British Journal of Cancer

Volume: 120, P: 883-895
Repositioning of Omarigliptin as a once-weekly intranasal Anti-parkinsonian Agent

Bassam M. Ayoub
Shereen Mowaka
Shaker A. Mousa
ResearchOpen Access12 Jun 2018
Scientific Reports

Volume: 8, P: 1-13
Large-scale brain network dynamics in very preterm children and relationship with socio-emotional outcomes: an exploratory study

Vanessa Siffredi
Maria Chiara Liverani
Russia Ha-Vinh Leuchter
ResearchOpen Access03 Nov 2022
Pediatric Research

Volume: 93, P: 2072-2080
Glaucoma and retained-triamcinolone in pediatric cataract surgery

M E Wilson
R H Trivedi
D Tadros
Correspondence10 Jun 2016
Eye

Volume: 30, P: 1273-1274

Search

Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases

Contact Angles for Thin Lipid Films and the Determination of London-van der Waals Forces

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Dimethyl fumarate in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2

Something cooking

Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Ndfip1 restricts mTORC1 signalling and glycolysis in regulatory T cells to prevent autoinflammatory disease

SARS-CoV-2 infection and persistence in the human body and brain at autopsy

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction

Management of congenital nasolacrimal duct obstruction in down syndrome

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Nanopore long-read RNA-seq and absolute quantification delineate transcription dynamics in early embryo development of an insect pest

Transcriptome analysis of rheumatoid arthritis uncovers genes linked to inflammation-induced pain

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Cyclin D1 expression in peripheral T-cell lymphomas

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Secondary intraocular lens implantation following infantile cataract surgery: intraoperative indications, postoperative outcomes

The impact of immediate breast reconstruction on the time to delivery of adjuvant therapy: the iBRA-2 study

Repositioning of Omarigliptin as a once-weekly intranasal Anti-parkinsonian Agent

Large-scale brain network dynamics in very preterm children and relationship with socio-emotional outcomes: an exploratory study

Glaucoma and retained-triamcinolone in pediatric cataract surgery

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