Yumei Li

发表

Large-scale identification of chemically induced mutations in Drosophila melanogaster

Nele A. Haelterman, Lichun Jiang, H. Bellen, 2014, Genome research.

The phenotypic variability of HK1-associated retinal dystrophy

R. Lewis, Yumei Li, L. Wong, 2017, Scientific Reports.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Colin A. Johnson, G. Mardon, G. Fishman, 2012, Nature Genetics.

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype

G. Mardon, Yumei Li, Rui Chen, 2018, Experimental eye research.

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

Yumei Li, Rui Chen, Zhaoxia Sun, 2015, Genetics in Medicine.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Lichun Jiang, Yumei Li, Rui Chen, 2015, Orphanet Journal of Rare Diseases.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

J. Lupski, G. Mardon, A. D. den Hollander, 2009, American journal of human genetics.

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Fei Xu, Yumei Li, Feng Wang, 2013, Investigative ophthalmology & visual science.

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance

Hui Li, Rui Chen, Yumei Li, 2017, Human mutation.

A genomic atlas of systemic interindividual epigenetic variation in humans

Chathura Gunasekara, A. Prentice, C. Coarfa, 2019, Genome Biology.

Bi-order multimodal integration of single-cell data

R. Başar, K. Rezvani, Yumei Li, 2022, Genome Biology.

Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients

Yumei Li, Rui Chen, Jane G Hu, 2022, Translational vision science & technology.

Single-Cell Capture, RNA-seq, and Transcriptome Analysis from the Neural Retina.

Yumei Li, Rui Chen, Sangbae Kim, 2020, Methods in molecular biology.

Epigenetic adaptation prolongs photoreceptor survival during retinal degeneration

Yumei Li, Rui Chen, Sangbae Kim, 2019, bioRxiv.

Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control

Chathura Gunasekara, C. Coarfa, G. Jun, 2022, bioRxiv.

Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy

Jingliang Cheng, Yumei Li, Rui Chen, 2017, Oncotarget.

Single-Cell Transcriptome Analysis Reveals Dynamic Cell Populations and Differential Gene Expression Patterns in Control and Aneurysmal Human Aortic Tissue

J. Coselli, S. Lemaire, Yumei Li, 2020, Circulation.

Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture

J. Coselli, S. Lemaire, K. Rajapakshe, 2020, Circulation.

optix functions as a link between the retinal determination network and the dpp pathway to control morphogenetic furrow progression in Drosophila.

G. Mardon, R. Chen, Yumei Li, 2013, Developmental biology.

Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index

Chathura Gunasekara, C. Coarfa, Yumei Li, 2022, Science advances.

Integrative single cell multiomics analysis of human retina indicates a role for hierarchical transcription factors collaboration in genetic effects on gene regulation

Yumei Li, Leah A. Owen, M. DeAngelis, 2022, bioRxiv.

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

Yumei Li, Rui Chen, R. Weleber, 2019, BMC Ophthalmology.

Mutations in human IFT140 cause non-syndromic retinal degeneration

Yumei Li, Rui Chen, Zhongqi Ge, 2015, Human Genetics.

Single-cell CRISPR immune screens reveal immunological roles of tumor intrinsic factors

Yiwen Chen, Nidhi Sahni, Yumei Li, 2022, NAR cancer.

A multi-omics atlas of the human retina at single-cell resolution

Yumei Li, Leah A. Owen, M. DeAngelis, 2022, bioRxiv.

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant

Yumei Li, Rui Chen, Junjiang Fu, 2018, British Journal of Ophthalmology.

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

R. Chen, Yumei Li, Muzammil Ahmad Khan, 2022, Genes.

Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids

Seunghoon Lee, Yumei Li, Rui Chen, 2019, Proceedings of the National Academy of Sciences.

Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling

Yumei Li, Leah A. Owen, Ken Chen, 2018, bioRxiv.

A unique and evolutionarily conserved retinal interneuron relays rod and cone input to the inner plexiform layer

Tushar H. Ganjawala, K. Deisseroth, C. Ramakrishnan, 2020, bioRxiv.

Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea.

Yumei Li, Hongyu Miao, De-Quan Li, 2020, The ocular surface.

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Yumei Li, Rui Chen, Hui Wang, 2015, Investigative ophthalmology & visual science.

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

O. Schueler‐Furman, D. Sharon, B. Rosin, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Functional Heterogeneity of Mouse Prostate Stromal Cells Revealed by Single-Cell RNA-Seq

C. Creighton, Yumei Li, Rui Chen, 2019, iScience.

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

Li Zhao, Fei Wang, Yong Chen, 2017, BMC Bioinformatics.

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Mohammad Hossein Khosravi, Jingliang Cheng, Yumei Li, 2017, Journal of cellular and molecular medicine.

CEP78 is mutated in a distinct type of Usher syndrome

Yumei Li, Rui Chen, Mingchu Xu, 2016, Journal of Medical Genetics.

Human telomeric proteins occupy selective interstitial sites

R. Chen, Yumei Li, Z. Songyang, 2011, Cell Research.

A proteomic landscape of diffuse-type gastric cancer

Mingwei Liu, Ying Hu, Wenwen Huang, 2018, Nature Communications.

A genomic atlas of systemic interindividual epigenetic variation in humans

Chathura Gunasekara, A. Prentice, C. Coarfa, 2019, Genome Biology.

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Yumei Li, M. Gorin, A. Matynia, 2023, bioRxiv.

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations

G. Fishman, Yumei Li, Rui Chen, 2021, Molecular vision.

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

Jingliang Cheng, Yumei Li, Rui Chen, 2018, BMC Medical Genetics.

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration

W. Liu, Yumei Li, Rui Chen, 2017, Investigative ophthalmology & visual science.

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

D. Koboldt, S. Daiger, S. Bowne, 2017, Investigative ophthalmology & visual science.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

D. Sharon, Yumei Li, Rui Chen, 2016, Human molecular genetics.

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

Yumei Li, Rui Chen, Xia Wang, 2016, Human mutation.

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Yumei Li, Rui Chen, D. Creel, 2015, Investigative ophthalmology & visual science.

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Yumei Li, Rui Chen, Hui Wang, 2014, Genetics in Medicine.

Genetics ATF 6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

Yumei Li, Rui Chen, D. Creel, 2015 .

Comprehensive analysis of patients with Stargardt macular

Yumei Li, Rui Chen, Hui Wang, 2015 .

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Giuliana Silvestri, Yumei Li, Feng Wang, 2014, Human Genetics.

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

Cindy Wen, Kang Zhang, P. Bernstein, 2014, Investigative ophthalmology & visual science.

A Missense Mutation in HK 1 Leads to Autosomal Dominant Retinitis Pigmentosa

Cindy Wen, Kang Zhang, P. Bernstein, 2014 .

A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

Yumei Li, Rui Chen, Mingchu Xu, 2014, Investigative ophthalmology & visual science.

Unbiased integration of single cell multi-omics data

Vakul Mohanty, Ken Chen, Shaoheng Liang, 2020, bioRxiv.

A nonhuman primate model of inherited retinal disease

C. Murphy, Rui Chen, R. Harris, 2019, The Journal of clinical investigation.

Single cell RNA sequencing of the adult Drosophila eye reveals distinct clusters and novel marker genes for all major cell types

G. Mardon, Yumei Li, Kelvin Yeung, 2022, bioRxiv.

Transcriptome-Wide Analysis of Human Chondrocyte Expansion on Synoviocyte Matrix

Yumei Li, Rui Chen, Zhongqi Ge, 2019, Cells.

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes

J. Qin, S. Jung, Yumei Li, 2016, Genome research.

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Yumei Li, Rui Chen, Zhongqi Ge, 2019, Retina.

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis

P. Sieving, Yumei Li, R. Hufnagel, 2023, Investigative ophthalmology & visual science.

Genome-wide Reinforcement of Cohesin Binding at Pre-existing Cohesin Sites in Response to Ionizing Radiation in Human Cells*

Xuewen Pan, R. Chen, J. Qin, 2010, The Journal of Biological Chemistry.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Yumei Li, George M Weinstock, Rui Chen, 2014, Advances in experimental medicine and biology.

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

Yumei Li, Rui Chen, D. Birch, 2021, Frontiers in Genetics.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

G. Mardon, J. Qin, R. Roepman, 2018, The Journal of cell biology.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

G. Mardon, S. Wu, S. Letteboer, 2015, Human molecular genetics.

Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina

G. Mardon, S. Wu, S. Letteboer, 2015 .

Exome capture sequencing identifies a novel mutation in BBS4

J. Lupski, R. Gibbs, G. Mardon, 2011, Molecular vision.

Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

Yumei Li, M. Pennesi, Paul Yang, 2023, Genes.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

High-Throughput Multiplex Sequencing to Discover Copy Number Variants in Drosophila

Yumei Li, Richard Gibbs, Hui Wang, 2009, Genetics.

Transcript isoforms of Reep6 have distinct functions in the retina.

Yumei Li, Rui Chen, Keqing Wang, 2021, Human molecular genetics.

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

Peter M. G. Munro, Yumei Li, Rui Chen, 2017, Human molecular genetics.

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.

Yumei Li, Rui Chen, Keqing Wang, 2019, Human gene therapy.

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

R. Lanz, Yumei Li, Rui Chen, 2020, bioRxiv.

Novel pathogenic CERKL variant in Iranian familial with inherited retinal dystrophies: genotype–phenotype correlation

Rui Chen, Yumei Li, S. Imani, 2023, 3 Biotech.

The phenotypic variability of HK1-associated retinal dystrophy

Rui Chen, Yumei Li, L. Wong, 2017, Scientific Reports.

DNA methylation in AgRP neurons regulates voluntary exercise behavior in mice

C. Coarfa, Yumei Li, R. Waterland, 2019, Nature Communications.

Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development

G. Mardon, Yumei Li, Rui Chen, 2018, Nucleic acids research.

Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta)

Yumei Li, Rui Chen, L. Garzel, 2021, Journal of medical primatology.

Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling

Yumei Li, Leah A. Owen, Ken Chen, 2019, Nature Communications.

Mutations in human IFT140 cause non-syndromic retinal degeneration

Yumei Li, Rui Chen, Zhongqi Ge, 2015, Human Genetics.

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Yumei Li, Rui Chen, D. Creel, 2015, Investigative ophthalmology & visual science.