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Publications

Functional variants in the TAS2R38 bitter taste receptor associate with postprandial glycemia.

Gervis JE, Westerman KE, Cole JB, Merino J, Cromer SJ, Udler MS. Functional variants in the TAS2R38 bitter taste receptor associate with postprandial glycemia. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.23.25328232

Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia.

Giangrande EJ, Kämpe A, Suvisaari J, et al. Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.20.25328039

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Welland MJ, Ahlquist KD, De Fazio P, et al. Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.19.25327921

Intelectin-2 is a broad-spectrum antimicrobial lectin.

Dugan AE, Syangtan D, Nonnecke EB, et al. Intelectin-2 is a broad-spectrum antimicrobial lectin. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.06.09.658748

Improved Allele Frequencies in gnomAD through Local Ancestry Inference.

Kore P, Wilson MW, Tiao G, et al. Improved Allele Frequencies in gnomAD through Local Ancestry Inference. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2024.10.30.620961

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Hildebrandt C, Genetti CA, Logvinenko T, et al. Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. Neurology. Genetics. 2025;11(4):e200277. doi:10.1212/NXG.0000000000200277

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD, Jurgens JA, Narisu N, et al. Systematic phenotype and genotype characterization of Moebius syndrome. Genetics in medicine open. 2025;3:103437. doi:10.1016/j.gimo.2025.103437

GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts.

Chitra U, Dan S, Krienen F, Raphael BJ. GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts. Bioinformatics (Oxford, England). 2025;41(Supplement_1):i523-i532. doi:10.1093/bioinformatics/btaf254

Anomaly detection in spatial transcriptomics via spatially localized density comparison.

Hu G, Gold J, Chitra U, Joshi S, Raphael BJ. Anomaly detection in spatial transcriptomics via spatially localized density comparison. Bioinformatics (Oxford, England). 2025;41(Supplement_1):i493-i501. doi:10.1093/bioinformatics/btaf242

How to Suspect and Approach Patients With Genetic Glomerular Disease.

Wongboonsin J, Gupta A, Quinlan C. How to Suspect and Approach Patients With Genetic Glomerular Disease. Seminars in nephrology. 2025;45(4):151653. doi:10.1016/j.semnephrol.2025.151653