ArticleCell stem cell2023
Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths.
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Article in Cell stem cell, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
9.4field-weighted citation impact, top 1% of its field
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Who cites it
41 citing papers in PubMed, 62 citations in OpenAlex.
- scASprofiler: profiling single-cell RNA splicing with a deep convolutional generative network.Briefings in bioinformatics · 2026Article
- The Evolution of Polyclonal Competition in Aging Hematopoiesis.Cancer discovery · 2026Article
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- Charting single-cell lineages with synthetic and natural barcodes.Nature reviews. Genetics · 2026Review
- Hematopoietic Aging and Leukemia: Mechanistic and Therapeutic Insights.International journal of molecular sciences · 2026Review
- Genotype-to-Phenotype Mapping of Somatic Clonal Mosaicism via Single-Cell Co-Capture of DNA Mutations and mRNA Transcripts.Cancer discovery · 2026Article
- A unified framework for correcting batch effects and integrating multi-omics data.Scientific reports · 2026Article
- A practical guide to targeted single-cell RNA sequencing technologies.Communications biology · 2026Review
- Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026Article
- Co-mapping clonal and transcriptional heterogeneity in somatic evolution via GoT-Multi.Cell genomics · 2026Article
- Decoding Vascular Cell Diversity: Single-Cell Approaches to Mechanisms of Vascular Disease.Circulation research · 2026Review
- Targeting splicing-derived neoantigens for precision cancer immunotherapy.Frontiers in immunology · 2026Review
- The tumor microenvironment in leukemia: molecular pathways of immune evasion.Frontiers in immunology · 2026Review
- Unraveling the FGFR-RNA splicing axis: Mechanisms, oncogenic crosstalks and innovations for therapeutic purpose.Acta pharmaceutica Sinica. B · 2026Review
- RoCK and ROI: single-cell transcriptomics with multiplexed enrichment of selected transcripts and region-specific sequencing.Nature communications · 2025Article
- SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.Leukemia · 2025Article
- Splicing Factor Mutations in Chronic Myelomonocytic Leukemia: Biological Consequences and Therapeutic Implications.Current hematologic malignancy reports · 2025Review
- Review
- Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms.Scientific reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 9 institutions in 4 countries.
Mariela Cortés-LópezNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Paulina ChamelyNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Allegra G HawkinsChildhood Cancer Data Lab, Alex's Lemonade Stand Foundation, Philadelphia, PA, USA.
Robert F StanleyMolecular Pharmacology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Ariel D SwettNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Saravanan GanesanNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Tarek H MouhieddineDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Xiaoguang DaiOxford Nanopore Technologies Inc., New York, NY, USA.
Lloyd KluegelNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Celine ChenNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA; Tri-Institutional MD-PhD Program, Weill Cornell Medicine, Rockefeller University, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kiran BattaDivision of Cancer Sciences, The University of Manchester, Manchester, UK.
Nili FurerWeizmann Institute of Science, Department of Molecular Cell Biology, Rehovot, Israel.
Rahul S VedulaDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
John BeaulaurierOxford Nanopore Technologies Inc., San Francisco, CA, USA.
Alexander W DrongOxford Nanopore Technologies Inc., New York, NY, USA.
Scott HickeyOxford Nanopore Technologies Inc., San Francisco, CA, USA.
Neville DusajNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA; Tri-Institutional MD-PhD Program, Weill Cornell Medicine, Rockefeller University, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Gavriel MullokandovNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Adam M StasiwNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Jiayu SuNew York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA.
Ronan ChalignéComputational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Sissel JuulOxford Nanopore Technologies Inc., New York, NY, USA.
Eoghan HarringtonOxford Nanopore Technologies Inc., New York, NY, USA.
David A KnowlesNew York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA; Department of Computer Science, Columbia University, New York, NY, USA.
Catherine J PotenskiNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA.
Daniel H WisemanDivision of Cancer Sciences, The University of Manchester, Manchester, UK.
Amos TanayWeizmann Institute of Science, Department of Computer Science and Applied Mathematics, Rehovot, Israel.
Liran ShlushWeizmann Institute of Science, Department of Molecular Cell Biology, Rehovot, Israel.
Robert C LindsleyDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Irene M GhobrialDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Justin TaylorSylvester Comprehensive Cancer Center, University of Miami, Miller School of Medicine, Miami, FL, USA.
Omar Abdel-WahabMolecular Pharmacology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Federico GaitiUniversity Health Network, Princess Margaret Cancer Centre, Toronto, ON, Canada; University of Toronto, Medical Biophysics, Toronto, ON, Canada. Electronic address: federico.gaiti@uhn.ca.
Dan A LandauNew York Genome Center, New York, NY, USA; Division of Hematology and Medical Oncology, Department of Medicine and Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA; Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA. Electronic address: dlandau@nygenome.org.
Cornell University · USMemorial Sloan Kettering Cancer Center · USDana-Farber Cancer Institute · USWeizmann Institute of Science · ILNew York Genome Center · USUniversity of Manchester · GBAlex's Lemonade Stand Foundation · USUniversity Health Network · CAUniversity of Miami · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MWeill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1MCenter for Integrated Cellular Analysis - Valeria A. Sanchez EstradaRM1HG011014 · NHGRI · NEW YORK GENOME CENTER · PI LANDAU, DAN, SATIJA, RAHUL · 2020 to 2025
$22.1MThe Memorial Sloan Kettering Cancer Center SPORE in LeukemiaP50CA254838 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Eytan Stein · 2021 to 2026
$16.8MGenetic and molecular basis for SRSF2 mutations in myelodysplasiaR01HL128239 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Omar Abdel-Wahab, Robert K Bradley · 2015 to 2026
$8.0MInterrogating the minor spliceosome to understand and treat leukemiaR01CA251138 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI ABDEL-WAHAB, OMAR, BRADLEY, ROBERT K · 2020 to 2024
$3.3MTargeting an RNA Binding Protein Network in Acute Myeloid LeukemiaR01CA242020 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI ABDEL-WAHAB, OMAR, AIFANTIS, IANNIS · 2020 to 2024
$2.7MCharting the differentiation topology of SF3B1 mutated clonal hematopoiesis (CH) and myelodysplastic syndromes (MDS) via a multi-omics single-cell toolkitR01HL157387 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI LANDAU, DAN · 2022 to 2025
$2.7MExpanding the GoT toolkit to link single-cell clonal genotypes with protein, transcriptomic, epigenomic and spatial phenotypesR33CA267219 · NCI · WEILL MEDICAL COLL OF CORNELL UNIV · PI LANDAU, DAN · 2022 to 2024
$1.2MSingle-Cell Multi-omics to Link Clonal Mosaicism (CM) Genotypes with Chromatin, Epigenomic, Transcriptomic and Protein PhenotypesUG3NS132139 · NINDS · WEILL MEDICAL COLL OF CORNELL UNIV · PI LANDAU, DAN, SATIJA, RAHUL · 2023 to 2024
$834kDeciphering Clonal Hematopoiesis via Single-Cell Multi-omicsF30HL156496 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI DUSAJ, NEVILLE · 2021 to 2024
$205kNCI NIH HHS P30 CA008748NCI NIH HHS P50 CA254838NCI NIH HHS R01 CA242020NCI NIH HHS R01 CA251138NCI NIH HHS R33 CA267219NHGRI NIH HHS RM1 HG011014NHLBI NIH HHS F30 HL156496NHLBI NIH HHS R01 HL128239NHLBI NIH HHS R01 HL157387NIGMS NIH HHS T32 GM007739NINDS NIH HHS UG3 NS132139
Abstract
RNA splicing factors are recurrently mutated in clonal blood disorders, but the impact of dysregulated splicing in hematopoiesis remains unclear. To overcome technical limitations, we integrated genotyping of transcriptomes (GoT) with long-read single-cell transcriptomics and proteogenomics for single-cell profiling of transcriptomes, surface proteins, somatic mutations, and RNA splicing (GoT-Splice). We applied GoT-Splice to hematopoietic progenitors from myelodysplastic syndrome (MDS) patients with mutations in the core splicing factor SF3B1. SF3B1
Indexed as
Myelodysplastic SyndromesRNA Splice SitesHumansMultiomicsMutationPhosphoproteinsRNA SplicingRNA Splicing FactorsPhosphoproteinsRNA Splice SitesRNA Splicing FactorsBAXclonal hematopoiesisgenotypinglong-read sequencingmulti-omicsmyelodysplastic syndromeRNA-seqSF3B1single cellsplicing
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.