This study compares transcriptome and proteome profiles of three microglia sources, identifying shared surface markers and HERV expression patterns, suggesting MDMi as a practical model for functional studies.

bioRxiv · Oct 1, 2026 · PreprintNeuroscience

Single-nucleus transcriptome-wide association study of human brain disorders

Sanan Venkatesh, Roman Kosoy, Zhenyi Wu, Marios Anyfantakis, Christian Dillard, N. M. Prashant, David Burstein, Deepika Dayal Mathur, Chris Chatzinakos, Bukola Ajanaku, Fotis Tsetsos, Biao Zeng, Sonali Gupta, Rachel Bercovitch, Aram Hong, , Panos Roussos

This study performs a single-nucleus transcriptome-wide association study to identify gene-trait associations in brain disorders, revealing cell-type-specific genetic regulation and ancestry-specific patterns.

Nature · Sep 23, 2026Peer-reviewedGenetic & Genomic Medicine

Single-Nucleus Atlas of Cell-Type Specific Genetic Regulation in the Human Brain

Biao Zeng, Hui Yang, N. M. Prashant, Sanan Venkatesh, Deepika Dayal Mathur, Pavan Kumar Auluck, David Alan Bennett, Stefano Marenco, Vahram H. Haroutunian, Aram Hong, Athan Z. Li, Chenfeng He, Chirag Gupta, Christian Dillard, Christian Porras, , Panos Roussos

The paper constructs a single-nucleus atlas of genetic regulation in the human brain, identifying cell-type-specific regulatory effects and disease-associated genes.

Nature Genetics · Sep 23, 2026Peer-reviewedGenetic & Genomic Medicine

Plasticity of Human Microglia and Brain Perivascular Macrophages in Aging and Alzheimer's Disease

Donghoon Lee, James M. Vicari, Christian Porras, Colleen Spencer, Milos Pjanic, Xinyi Wang, Seon Kinrot, Philipp Weiler, Roman Kosoy, Jaroslav M. Bendl, N. M. Prashant, Konstantina Psychogyiou, Periklis Malakates, Evelyn Hennigan, Jennifer Monteiro Fortes, , Panos Roussos

The paper profiles human myeloid cells across aging and Alzheimer's disease, identifies AD-associated changes, and links GPNMB to neuroprotection via TREM2.

Nature Genetics · Aug 11, 2026Peer-reviewedGenetic & Genomic Medicine

Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing

Jack Humphrey, Erica Brophy, Roman Kosoy, Biao Zeng, Elena Coccia, Daniele Mattei, Ashvin Ravi, Tatsuhiko Naito, Anastasia G. Efthymiou, Elisa Navarro, Claudia De Sanctis, Victoria Flores Almazan, Benjamin Z. Muller, Gijsje J. L. Snijders, Amanda Allan, , Towfique Raj

The paper presents a long-read RNA-seq atlas of microglia isoforms, identifying novel isoforms and their associations with genetic risk loci in Alzheimer's and Parkinson's disease.

Nature Genetics · Mar 1, 2025Peer-reviewedGenetic & Genomic Medicine

From compartments to gene loops: Functions of the 3D genome in the human brain

Samir Rahman, Pengfei Dong, Pasha Apontes, Michael B. Fernando, Roman Kosoy, Kayla G. Townsley, Kiran Girdhar, Jaroslav M. Bendl, Zhiping Shao, Ruth Misir, Nadejda M. Tsankova, Steven P. Kleopoulos, Kristen Brennand, John F. Fullard, Panos Roussos

This study investigates the 3D genome organization in human brain development, finding differences in compartment and loop domain formation between neurons and glia.

Nucleic Acids Research · Oct 9, 2023Peer-reviewedGenomics

Genetics of the human microglia regulome refines Alzheimer's disease risk loci

Roman Kosoy, John F. Fullard, Biao Zeng, Jaroslav M. Bendl, Pengfei Dong, Samir Rahman, Steven P. Kleopoulos, Zhiping Shao, Kiran Girdhar, Jack Humphrey, Kátia de Paiva Lopes, Alexander W. Charney, Brian Harris Kopell, Towfique Raj, David Alan Bennett, , Panos Roussos

The paper identifies regulatory mechanisms for 21 Alzheimer's disease risk loci in human microglia using transcriptome and chromatin accessibility profiling.

Nature Genetics · Aug 1, 2022Peer-reviewedGenetic & Genomic Medicine

Trans-ethnic eQTL meta-analysis of human brain reveals regulatory architecture and candidate causal variants for brain-related traits

Biao Zeng, Jaroslav M. Bendl, Roman Kosoy, John F. Fullard, Gabriel E. Hoffman, Panos Roussos

The paper performs a trans-ethnic eQTL meta-analysis to identify regulatory variants and candidate causal genes for brain-related traits.

Nature Genetics · Jan 20, 2022Peer-reviewedGenetic & Genomic Medicine

A Molecular network approach reveals shared cellular and molecular signatures between chronic fatigue syndrome and other fatiguing illnesses

Phillip Comella, Edgar Gonzalez‐Kozlova, Roman Kosoy, Alexander W. Charney, Irene Font Peradejordi, Shreya Chandrasekar, Scott R. Tyler, Wenhui Wang, Bojan Losic, Jun Zhu, Gabriel E. Hoffman, Seunghee Kim‐Schulze, Jingjing Qi, Manishkumar Patel, Andrew Kasarskis, , Eric E. Schadt

This study identifies shared molecular signatures between chronic fatigue syndrome and other fatiguing illnesses using RNA-sequencing data from blood samples.

medRxiv · Jan 29, 2021 · PreprintGenetic & Genomic Medicine