Seattle Children's Hospital

Global, regional, and national sepsis incidence and mortality, 1990–2017: analysis for the Global Burden of Disease Study

Sepsis is life-threatening organ dysfunction due to a dysregulated host response to infection. It is considered a major cause of health loss, but data for the global burden of s...

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and...

The genomic landscape of hypodiploid acute lymphoblastic leukemia

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The 2010 American College of Rheumatology/European League Against Rheumatism classification criteria for rheumatoid arthritis: Phase 2 methodological report

Abstract Objective The American College of Rheumatology and the European League Against Rheumatism have developed new classification criteria for rheumatoid arthritis (RA). The ...

Anti–citrullinated peptide antibody assays and their role in the diagnosis of rheumatoid arthritis

Increasingly, assays for the detection of anti-citrullinated peptide antibodies (ACPA) are used in RA diagnosis. This review summarizes the biologic basis and development of ACP...

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

Abstract Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To acceler...