Publications

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Vrbacká A, Přistoupilová A, Kidd KO, et al. Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis. Journal of the American Society of Nephrology : JASN. 2026. doi:10.1681/ASN.0000001103Google Scholar DOI PubMed

Predicted meta-omics: A potential solution to multi-omics data scarcity in microbiome studies.

Cosma BM, Pillay S, Calderón-Franco D, Abeel T. Predicted meta-omics: A potential solution to multi-omics data scarcity in microbiome studies. PloS one. 2026;21(4):e0345919. doi:10.1371/journal.pone.0345919Google Scholar DOI PubMed

New approaches to discovering epigenetic rules of homeostasis in diverse mammal species.

Gonzalez J, Genereux DP, Crouse K, et al. New approaches to discovering epigenetic rules of homeostasis in diverse mammal species. BMC genomics. 2026. doi:10.1186/s12864-026-12823-7Google Scholar DOI PubMed

Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank.

Xu J, Shi Z, Khetarpal SA, et al. Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank. Circulation. Genomic and precision medicine. 2026:e005494. doi:10.1161/CIRCGEN.125.005494Google Scholar DOI PubMed

ClinGen API platform for classification of human genetic variants.

Shah N, Farris T, Zuniga AA, et al. ClinGen API platform for classification of human genetic variants. Cell genomics. 2026;6(4):101211. doi:10.1016/j.xgen.2026.101211Google Scholar DOI PubMed

Methylome-Wide Association Study of Obsessive-Compulsive Disorder.

Höffler KD, Stavrum AK, Halvorsen MW, et al. Methylome-Wide Association Study of Obsessive-Compulsive Disorder. Biological psychiatry. 2026. doi:10.1016/j.biopsych.2026.03.1003Google Scholar DOI PubMed

Blood neutrophil genetics highlight the role of neutrophils in early childhood asthma and viral respiratory illnesses.

Luo Y, Eliasen AU, Fischer-Rasmussen K, et al. Blood neutrophil genetics highlight the role of neutrophils in early childhood asthma and viral respiratory illnesses. The Journal of allergy and clinical immunology. 2026. doi:10.1016/j.jaci.2026.03.019Google Scholar DOI PubMed

Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.

Kaprio L, Kiukkonen A, Juuri E, Rice DP, Ollila HM, Strausz S. Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population. Human molecular genetics. 2026;35(6). doi:10.1093/hmg/ddag020Google Scholar DOI PubMed

Sialylated CD43 forms a glyco-immune barrier that restrains antileukemic immunity.

Chung J, Vallurupalli M, Noel S, et al. Sialylated CD43 forms a glyco-immune barrier that restrains antileukemic immunity. Science (New York, N.Y.). 2026;392(6794):eady5196. doi:10.1126/science.ady5196Google Scholar DOI PubMed

Luminal surface proteome of the brain vasculature uncovers blood-brain barrier regulators.

Zhu Z, Jiang Z, Wang Y, et al. Luminal surface proteome of the brain vasculature uncovers blood-brain barrier regulators. Science (New York, N.Y.). 2026;392(6794):eaea2100. doi:10.1126/science.aea2100Google Scholar DOI PubMed