Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study
Authors
Keywords
-
Journal
ANNALS OF THE RHEUMATIC DISEASES
Volume -, Issue -, Pages ard-2023-224732
Publisher
BMJ
Online
2023-11-03
DOI
10.1136/ard-2023-224732
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Differential BMP Signaling Mediates the Interplay Between Genetics and Leaflet Numbers in Aortic Valve Calcification
- (2022) Jae-Joon Jung et al. JACC-Basic to Translational Science
- DCBLD2 regulates vascular hyperplasia by modulating the platelet derived growth factor receptor‐β endocytosis through Caveolin‐1 in vascular smooth muscle cells
- (2022) Shuai Wang et al. FASEB JOURNAL
- Pan-cancer analyses identify DCBLD2 as an oncogenic, immunological, and prognostic biomarker
- (2022) Pan Xie et al. Frontiers in Pharmacology
- Rare variant contribution to human disease in 281,104 UK Biobank exomes
- (2021) Quanli Wang et al. NATURE
- Computationally efficient whole-genome regression for quantitative and binary traits
- (2021) Joelle Mbatchou et al. NATURE GENETICS
- A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
- (2021) Kheloud M. Alhamoudi et al. Scientific Reports
- A prospective observational cohort study and systematic review of 40 patients with mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome
- (2021) Yiming Luo et al. SEMINARS IN ARTHRITIS AND RHEUMATISM
- Incorporating external information to improve sparse signal detection in rare‐variant gene‐set‐based analyses
- (2020) Mengqi Zhang et al. GENETIC EPIDEMIOLOGY
- An atlas of the protein-coding genes in the human, pig, and mouse brain
- (2020) Evelina Sjöstedt et al. SCIENCE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
- (2020) David B. Beck et al. NEW ENGLAND JOURNAL OF MEDICINE
- The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease
- (2019) Anna M. Schmoker et al. BIOCHEMICAL JOURNAL
- Benefits and limitations of genome-wide association studies
- (2019) Vivian Tam et al. NATURE REVIEWS GENETICS
- Assessment of TNF-α inhibitors in airway involvement of relapsing polychondritis
- (2019) Josette Biya et al. MEDICINE
- UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test
- (2019) Zhangchen Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse
- (2017) Cynthia L Smith et al. NUCLEIC ACIDS RESEARCH
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Whole Exome Sequencing in Atrial Fibrillation
- (2016) Steven A. Lubitz et al. PLoS Genetics
- The Molecular Signatures Database Hallmark Gene Set Collection
- (2015) Arthur Liberzon et al. Cell Systems
- Firth logistic regression for rare variant association tests
- (2014) Xuefeng Wang Frontiers in Genetics
- Transmembrane protein ESDN promotes endothelial VEGF signaling and regulates angiogenesis
- (2013) Lei Nie et al. JOURNAL OF CLINICAL INVESTIGATION
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now