Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study

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