Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Therapeutic options in Vexas syndrome: insights from a retrospective series

(2021) Estelle Bourbon et al.   BLOOD

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

(2021) James A Poulter et al.   BLOOD

Defining Clinical Subgroups in Relapsing Polychondritis: A Prospective Observational Cohort Study

(2020) Marcela Ferrada et al.   Arthritis & Rheumatology

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

(2020) David B. Beck et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

(2019) Yuri Uchiyama et al.   JOURNAL OF HUMAN GENETICS

Relapsing polychondritis patients were divided into three subgroups

(2018) Jun Shimizu et al.   MEDICINE

Relapsing polychondritis: A clinical update

(2016) Lucia Longo et al.   AUTOIMMUNITY REVIEWS

The increasing complexity of the ubiquitin code

(2016) Richard Yau et al.   NATURE CELL BIOLOGY

Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases

(2016) Chikashi Terao et al.   RHEUMATOLOGY

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

(2016) Yuri Uchiyama et al.   Scientific Reports

Relapsing Polychondritis Can Be Characterized by Three Different Clinical Phenotypes: Analysis of a Recent Series of 142 Patients

(2016) Jérémie Dion et al.   Arthritis & Rheumatology

Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives

(2015) Antonio Vitale et al.   Current Rheumatology Reports

The exact unconditionalz-pooled test for equality of two binomial probabilities: optimal choice of the Berger and Boos confidence coefficient

(2011) Stian Lydersen et al.   JOURNAL OF STATISTICAL COMPUTATION AND SIMULATION

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Recommended tests for association in 2×2 tables

(2009) Stian Lydersen et al.   STATISTICS IN MEDICINE