Author
Sai Ma
Icahn School of Medicine at Mount SinaiORCID 0000-0002-9785-7929Unclaimed ORCID profile · follow to get notified of new preprints
Additional preprints under this name without ORCID
Biology Disciplines
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2020-2026 · peak 7/yrCo-Author Collaboration Network
10 top collaborators · 19 mutual co-author links22 papers
Recent·Most cited
- GenomicsbioRxivPreprint
Disrupted chromatin architecture blocks B lymphopoiesis in Down syndrome
Zhicong Liao, Mimi Zhang, Brian Y. Soong…·Sai Ma
The paper develops ChromE-seq to study 3D chromatin architecture in fetal hematopoiesis, finding that T21 disrupts B-lineage development by altering chromatin connectivity and regulatory circuits.
- Cancer BiologyBlood AdvancesPeer-reviewed
A CRISPR-Based Humanized Model Reveals Cooperative Role of STAG2 Loss in Familial GATA2-Deficient MDS Progression
Grace S. Freed, Miguel Quijada Álamo, L Lee…·Elvin Wagenblast
This paper uses a CRISPR-based humanized model to show that STAG2 loss cooperates with GATA2 deficiency to drive MDS progression through increased HSC self-renewal and myeloid bias.
- Synthetic BiologyJournal of Investigative DermatologyPeer-reviewed
Human skin rejuvenation via mRNA
Li Li, Zhengkuan Tang, Xavier Portillo…·George McDonald Church
This paper presents a single-cell atlas of skin aging and identifies ATF3 as a regulator of aging, leading to an mRNA-based treatment that reduces cell senescence and enhances skin rejuvenation.
- GenomicsbioRxivPreprint
Uhrf1 loss disrupts Ctcf-associated chromatin organization during early mouse embryogenesis
Agata Kurowski, Bohan Zhu, Yifei Sun…·Sai Ma
This study shows that Uhrf1 loss causes DNA methylation loss and chromatin disruption in mouse embryos, leading to developmental failure and altered lineage specification.
DOI 10.64898/2026.07.15.738670 - GenomicsbioRxivPreprint
Early microglial priming in Alzheimer's disease revealed by ME-seq
Bohan Zhu, Anurupa Ghosh, Zhe Wang…·Sai Ma
The paper introduces ME-seq, a technology that profiles DNA methylation, gene expression, and chromatin accessibility in single nuclei, revealing early microglial priming in Alzheimer's disease.
4 citations - Cancer BiologybioRxivPreprint
Liver Zonation Disruption Fuels Hepatocellular Carcinoma in Chronic Liver Disease
Sue Bin Yang, Federico Di Tullio, Lida Yang…·Tianliang Sun
This study identifies zonation disruption, specifically aberrant β-catenin expansion, as a novel driver of hepatocellular carcinoma in chronic liver disease, revealing a distinct human HCC subtype with therapeutic implications.
- NeurosciencebioRxivPreprint
Cell-type-resolved NRXN1 isoforms across human brain tissues and hiPSC cortical organoids
Lei Cao, Yu Fan, Sadaf Ghorbani…·Gang Fang
The paper develops an integrative sequencing strategy to catalog NRXN1 isoforms across human brain tissues and hiPSC organoids, revealing cell-type-specific splicing patterns and therapeutic potential of ASO targeting.
- GenomicsbioRxivPreprint
A single-cell spatial transcriptomic census of human skin anatomy
Paula Restrepo, Alexis Wilder, Aubrey E. Houser…·Andrew L. Ji
The paper constructs a spatial transcriptomic atlas of human skin, identifying 45 cell types across 15 sites and revealing neighborhood disruptions in disease.
3 citations - ImmunologyNaturePeer-reviewed
Myeloid progenitor dysregulation fuels immunosuppressive macrophages in tumors
Samarth Hegde, Bruno Giotti, Brian Y. Soong…·Miriam Mérad
The paper identifies NRF2-driven myeloid progenitor dysregulation that sustains immunosuppressive macrophages in tumors, showing NRF2 inhibition reduces their survival and enhances antitumor immunity.
- Cell BiologybioRxivPreprint
Targeting ZNRF3 and RNF43 to Restore Regeneration and Reverse Metabolic Dysfunction-Associated Steatotic Liver Disease
Federico Di Tullio, Sue Bin Yang, Lida Yang…·Tianliang Sun
This study shows that deleting ZNRF3 and RNF43 in hepatocytes after MASH onset restores liver regeneration and reverses steatosis, inflammation, and fibrosis without causing tumorigenesis or hepatotoxicity.
- Developmental BiologybioRxivPreprint
Expanding GABAergic Neuronal Diversity in PSC-Derived Disease Models
Ruiqi Hu, Linda L. Boshans, Yiran Tao…·Nan Yang
This study develops a method to generate diverse GABAergic neurons from PSCs using TFs and signaling inhibition, showing distinct subtype compositions and disease relevance.
3 citations - GenomicsNature CommunicationsPeer-reviewed
Droplet-based bisulfite sequencing for high-throughput profiling of single-cell DNA methylomes
Qiang Zhang, Sai Ma, Zhengzhi Liu…·Chang Lu
This paper introduces Drop-BS, a droplet-based microfluidic method for single-cell bisulfite sequencing, enabling high-throughput DNA methylome profiling of up to 10,000 cells in 2 days.
- GenomicsbioRxivPreprint
Single-cell multi-scale footprinting reveals the modular organization of DNA regulatory elements
Yan Hu, Sai Ma, Vinay K. Kartha…·Jason Daniel Buenrostro
The paper introduces PRINT, a deep learning method to correct chromatin accessibility data and analyze DNA-protein interactions, revealing structural and functional changes in cis-regulatory elements during hematopoiesis and aging.
- GenomicsNaturePeer-reviewed
Spatial-ATAC-seq: spatially resolved chromatin accessibility profiling of tissues at genome scale and cellular level
Yanxiang Deng, Marek Bartošovič, Sai Ma…·Rong Fan
This paper introduces spatial-ATAC-seq, a method for spatially resolved chromatin accessibility profiling at the cellular level, and demonstrates its application in mouse embryos and human tonsil tissue.
- GenomicsCell GenomicsPeer-reviewed
Functional Inference of Gene Regulation using Single-Cell Multi-Omics
Vinay K. Kartha, Fabiana M. Duarte, Yan Hu…·Jason Daniel Buenrostro
This paper develops FigR, a framework to integrate scATAC-seq and scRNA-seq data to infer gene regulatory networks and identify TF regulators in immune responses.
224 citationstop 1% - GenomicsNAR Genomics and BioinformaticsPeer-reviewed
Cell-type-specific epigenomic variations associated with BRCA1 mutation in pre-cancer human breast tissues
Yuan-Pang Hsieh, Lynette B. Naler, Sai Ma, Chang Lu
The paper identifies cell-type-specific epigenomic differences in pre-cancerous breast tissues of BRCA1 mutation carriers compared to non-carriers.
- GenomicsNature MethodsPeer-reviewed
Deep learning and alignment of spatially-resolved whole transcriptomes of single cells in the mouse brain with Tangram
Tommaso Biancalani, Gabriele Scalia, Lorenzo Buffoni…·Aviv Regev
The paper introduces Tangram, a method that aligns single-nucleus RNA-seq data with spatial data to create an anatomically integrated spatial map of the mouse brain.
- GenomicsCellPeer-reviewed
Chromatin potential identified by shared single cell profiling of RNA and chromatin
Sai Ma, Bing Zhang, Lindsay M. LaFave…·Jason Daniel Buenrostro
The paper introduces SHARE-seq, a method to profile RNA and chromatin in single cells, and identifies DORCs that predict lineage commitment by chromatin accessibility changes.
- NeurosciencebioRxivPreprint
Temporally-Divergent Regulatory Mechanisms Govern Neuronal Development and Diversification in the Neocortex
Wen Yuan, Sai Ma, Juliana R. Brown…·Paola Arlotta
This study identifies temporally divergent regulatory mechanisms in neuronal development and maturation across mouse and marmoset neocortex.
- GenomicsNature CommunicationsPeer-reviewed
Inference and effects of barcode multiplets in droplet-based single-cell assays
Caleb A. Lareau, Sai Ma, Fabiana M. Duarte, Jason Daniel Buenrostro
The paper identifies and quantifies barcode multiplets in 10x Chromium scATAC-seq data, showing their potential to confound single-cell analyses.
69 citations