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Kaiyue Ma

Transcriptionally active HERV-H retrotransposons demarcate topologically associating domains in human pluripotent stem cells
2019 · Yanxiao Zhang, Ting Li, et al. · Nature Genetics · 376
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Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
2023 · Angela Lek, Brenda Wong, et al. · New England Journal of Medicine · 315
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Quantifying constraint in the human mitochondrial genome
2024 · Nicole J. Lake, Kaiyue Ma, et al. · Nature · 60
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Integrated analysis of the complete sequence of a macaque genome
2025 · Shilong Zhang, Ning Xu, et al. · Nature · 46
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Unexpected Death of a Duchenne Muscular Dystrophy Patient in an N-of-1 Trial of rAAV9-delivered CRISPR-transactivator
2023 · Angela Lek, Brenda Wong, et al. · medRxiv · 36
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Saturation mutagenesis-reinforced functional assays for disease-related genes
2024 · Kaiyue Ma, Shushu Huang, et al. · Cell · 21
CLMP is a tumor suppressor that determines all-trans retinoic acid response in colorectal cancer
2023 · Zhenzhen Wu, Xuanxuan Zhang, et al. · Developmental Cell · 15
High-throughput assays to assess variant effects on disease
2024 · Kaiyue Ma, Logan O. Gauthier, et al. · Disease Models & Mechanisms · 6
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Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy
2024 · Yidan Liu, Dandan Tan, et al. · Journal of genetics and genomics/Journal of Genetics and Genomics · 5
Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
2024 · Xinrui Jiang, Lu Zhang, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4
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Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies
2024 · Kaiyue Ma, Xiangyu Yang, et al. · Trends in Genetics · 4
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)
2023 · Kaiyue Ma, Kaiyue Ma, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 3
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Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
2025 · Zikun Yang, Lu Zhang, et al. · Cell Genomics · 2
Nuclease-Deficient Clustered Regularly Interspaced Short Palindromic Repeat-Based Approaches for In Vitro and In Vivo Gene Activation
2021 · Angela Lek, Kaiyue Ma, et al. · Human Gene Therapy · 2
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec
2025 · Marie-Hélène Bourassa, Guillaume Sillon, et al. · Cells · 1
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A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias
2025 · Shilong Zhang, Ning Xu, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
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Mitochondrial DNA base editing in HEK293T cells v1
2024 · Nicole Lake, Kaiyue Ma, et al. · 1
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Bibliometric Analysis of Gene Research in Alzheimer’s Disease
2020 · Yao-zhou Liu, Kaiyue Ma, et al. · Zhongguo shengwu gongcheng zazhi · 1
Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China
2026 · Liya Cui, Kaiyue Ma, et al. · CNS Neuroscience & Therapeutics
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Complex subtelomeric architectures in a complete rhesus macaque reference genome
2026 · Shilong Zhang, Ning Xu, et al. · Cell
Comprehensive Mapping of SGCA Variant Effects Reveals Domain-Specific Constraints Relevant to Sarcoglycanopathies
2026 · Shushu Huang, Kenneth Ng, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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An alarm system for biomedical construct design: a lesson from the unintended protein product of eGFP
2026 · Ziyi Wang, Hongyi Ma, et al. · bioRxiv (Cold Spring Harbor Laboratory)
Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes
2025 · Logan O. Gauthier, Ziyi Wang, et al. · STAR Protocols
Saturation Mutagenesis-Reinforced Functional Assays (SMuRF) for alpha-dystroglycan glycosylation enzymes (using FKRP and LARGE1 as examples) v1
2023 · Kaiyue Ma, Shushu Huang, et al.
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Works count: 26
Citation count: 903
H-index: 7
I10-index: 7
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