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Publications

Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata.

Herrera-Rivero M, Gossmann Y, Awasthi S, et al. Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata. Frontiers in immunology. 2026;17:1810658. doi:10.3389/fimmu.2026.1810658

PMCID

PMC13133067

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

Ritter DI, Mandell M, Preston C, et al. ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform. Genetics in medicine : official journal of the American College of Medical Genetics. 2026:102590. doi:10.1016/j.gim.2026.102590

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease.

Ritter DI, Badduke C, Doonanco K, et al. Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2026:102589. doi:10.1016/j.gim.2026.102589

Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells.

Lyu P, Agarwal G, Guo CJ, et al. Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells. Cell. 2026. doi:10.1016/j.cell.2026.04.014

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.

Lassen FH, Kalantzis G, Eoli A, et al. Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases. American journal of human genetics. 2026. doi:10.1016/j.ajhg.2026.04.005

Biologically inspired digital histology for deep phenotyping of placental composition changes across major lesion types.

Walker EC, Vanea C, Meir K, et al. Biologically inspired digital histology for deep phenotyping of placental composition changes across major lesion types. Placenta. 2026. doi:10.1016/j.placenta.2026.04.020

In vivo imaging of central nervous system fluid spaces using synchrotron radiation-based micro computed tomography.

Alarcón MG, Kuo W, Humbel M, et al. In vivo imaging of central nervous system fluid spaces using synchrotron radiation-based micro computed tomography. Nature communications. 2026. doi:10.1038/s41467-026-71835-9

PTPN2 inhibition unleashes response to STING agonism in head and neck squamous cell cancer.

Li Z, Fu C, Sehgal K, et al. PTPN2 inhibition unleashes response to STING agonism in head and neck squamous cell cancer. Nature communications. 2026. doi:10.1038/s41467-026-72372-1

An anaerobic pathogen rewires host metabolism to fuel oxidative growth in the inflamed gut.

Spiga L, Fansler RT, Wu Y, et al. An anaerobic pathogen rewires host metabolism to fuel oxidative growth in the inflamed gut. Cell. 2026. doi:10.1016/j.cell.2026.04.012

Uncovering immune dysfunction in ACLF: cellular mechanisms, molecular pathways, and therapeutic frontiers.

Ortega-Ribera M, Brenig R, Bernsmeier C, Szabo G. Uncovering immune dysfunction in ACLF: cellular mechanisms, molecular pathways, and therapeutic frontiers. Journal of hepatology. 2026. doi:10.1016/j.jhep.2026.04.025