Centralized Sequencing Program Featured Research

Publications arising from collaborations with the NIAID Centralized Sequencing Program.

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Sterile alpha motif (SAM) and Src homology-3 (SH3) domain-containing 3 (SASH3), also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor protein that is postulated to play an important role in the organization of signaling complexes...

Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations

Comprehensive exome analysis has diagnostic and clinical utility: one-quarter of the molecular diagnoses in this study were found in genes not associated with inborn errors...

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