Alejandro A. Schäffer

Re-evaluation of the contribution of <i>TNFRSF13B</i> variants to antibody deficiency

PERCEPTION predicts patient response and resistance to treatment using single-cell transcriptomics of their tumors

Identification of intracellular bacteria from multiple single-cell RNA-seq platforms using CSI-Microbes

Temporal Genomic Analysis of Homogeneous Tumor Models Reveals Key Regulators of Immune Evasion in Melanoma

VADR: validation and annotation of virus sequence submissions to GenBank

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

ZNF341 controls STAT3 expression and thereby immunocompetence

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

The evolution of single cell-derived colorectal cancer cell lines is dominated by the continued selection of tumor-specific genomic imbalances, despite random chromosomal instability

Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

The phenotype of human STK4 deficiency