Genome Medicine

Papers
(The median citation count of Genome Medicine is 10. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)
ArticleCitations
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes512
The genetics and epidemiology of N- and O-immunoglobulin A glycomics434
Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients195
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury162
Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery157
Destination shapes antibiotic resistance gene acquisitions, abundance increases, and diversity changes in Dutch travelers154
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance152
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma149
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis143
Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries131
Circulating bacterial signature is linked to metabolic disease and shifts with metabolic alleviation after bariatric surgery117
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility114
Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastoma114
Comprehensive mapping of binding hot spots of SARS-CoV-2 RBD-specific neutralizing antibodies for tracking immune escape variants108
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes101
Whole genome sequencing-based classification of human-related Haemophilus species and detection of antimicrobial resistance genes98
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma96
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance92
Landscape and selection of vaccine epitopes in SARS-CoV-292
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-1991
A mixture model for signature discovery from sparse mutation data89
Transcriptomic perspectives of memory-like NK cells and aging88
African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans87
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic85
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study79
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men79
Pervasiveness of HLA allele-specific expression loss across tumor types79
ReporTree: a surveillance-oriented tool to strengthen the linkage between pathogen genetic clusters and epidemiological data74
A machine learning classifier using 33 host immune response mRNAs accurately distinguishes viral and non-viral acute respiratory illnesses in nasal swab samples72
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders70
Circular RNA landscape in extracellular vesicles from human biofluids66
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)66
In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers63
Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians60
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer60
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma57
The exceptions that prove the rule—a historical view of bedaquiline susceptibility57
Genome sequencing as a generic diagnostic strategy for rare disease56
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination55
Meta-analysis identifies common gut microbiota associated with multiple sclerosis55
A validated heart-specific model for splice-disrupting variants in childhood heart disease54
Variability of polygenic prediction for body mass index in Africa54
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease54
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies53
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations53
Knockout mice with pituitary malformations help identify human cases of hypopituitarism52
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans52
Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative51
Epigenetic age and long-term cancer risk following a stroke51
Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved50
Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics50
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions50
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization50
Identification of specific susceptibility loci for the early-onset colorectal cancer50
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions49
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer48
The role of admixture in the rare variant contribution to inflammatory bowel disease48
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young47
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes47
Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative46
Metagenomic prediction of antimicrobial resistance in critically ill patients with lower respiratory tract infections45
Correction: Applicability of epigenetic age models to next-generation methylation arrays45
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer45
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases44
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing44
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer43
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network42
Annotation of cell types (ACT): a convenient web server for cell type annotation42
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets41
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences41
Metabolic control by the microbiome40
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning40
Effectiveness and safety of Bifidobacterium and berberine in human hyperglycemia and their regulatory effect on the gut microbiota: a multi-center, double-blind, randomized, parallel-controlled study40
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens40
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients40
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning40
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters39
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone39
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing39
Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone39
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women39
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci38
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome38
The genomic landscape of rare disorders in the Middle East37
The gut microbiota in multiple sclerosis varies with disease activity37
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA36
Machine learning integrative approaches to advance computational immunology36
Deep learning in cancer genomics and histopathology36
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA36
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury35
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma35
Metatranscriptomic profiling reveals pathogen and host response signatures of pediatric acute sinusitis and upper respiratory infection35
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation35
DNA demethylation triggers cell free DNA release in colorectal cancer cells35
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial35
An introduction to spatial transcriptomics for biomedical research35
A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature34
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities34
Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy34
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders34
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential34
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases33
Efficacy and safety of novel multiple-chain DAP-CAR-T cells targeting mesothelin in ovarian cancer and mesothelioma: a single-arm, open-label and first-in-human study33
Correction to: Whole genome sequencing-based classifcation of human-related Haemophilus species and detection of antimicrobial resistance genes33
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing33
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes32
Somatic mutational profiles and germline polygenic risk scores in human cancer32
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes32
Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes32
pVACview: an interactive visualization tool for efficient neoantigen prioritization and selection32
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer31
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing31
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer31
Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies31
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders31
Human liver single nucleus and single cell RNA sequencing identify a hepatocellular carcinoma-associated cell-type affecting survival30
Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits30
An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration30
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia30
Evaluating the potential for respiratory metagenomics to improve treatment of secondary infection and detection of nosocomial transmission on expanded COVID-19 intensive care units30
A global cancer data integrator reveals principles of synthetic lethality, sex disparity and immunotherapy30
Constructing germline research cohorts from the discarded reads of clinical tumor sequences29
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications29
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study29
A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres29
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification29
Mendelian gene identification through mouse embryo viability screening28
Non-canonical antigens are the largest fraction of peptides presented by MHC class I in mismatch repair deficient murine colorectal cancer28
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years28
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data28
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research28
SRT-Server: powering the analysis of spatial transcriptomic data28
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA27
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation27
Prostate cancers with distinct transcriptional programs in Black and White men27
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment27
Intra-prostatic tumour evolution, steps in metastatic spread and histogenomic associations revealed by integration of multi-region whole-genome sequencing with histopathological features27
An atlas of cell-type-specific interactome networks across 44 human tumor types27
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation27
Ancestry-driven metabolite variation provides insights into disease states in admixed populations27
Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study27
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk26
Nanopore-based random genomic sampling for intraoperative molecular diagnosis26
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort26
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy26
SenPred: a single-cell RNA sequencing-based machine learning pipeline to classify deeply senescent dermal fibroblast cells for the detection of an in vivo senescent cell burden26
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes26
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance26
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases26
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence25
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer25
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses25
A meta-analysis of immune-cell fractions at high resolution reveals novel associations with common phenotypes and health outcomes25
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission25
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos25
Elucidating the diversity of malignant mesenchymal states in glioblastoma by integrative analysis24
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq24
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants24
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study24
A lepidic gene signature predicts patient prognosis and sensitivity to immunotherapy in lung adenocarcinoma24
Identification and drug-induced reversion of molecular signatures of Alzheimer’s disease onset and progression in AppNL-G-F, AppNL-F, and 3xTg-AD mouse models24
Human reference gut microbiome catalog including newly assembled genomes from under-represented Asian metagenomes24
Whole genome sequencing reveals the independent clonal origin of multifocal ileal neuroendocrine tumors23
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis23
Longitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer23
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory23
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer23
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses23
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program23
Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans22
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer22
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study22
An international policy on returning genomic research results22
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology22
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes22
STopover captures spatial colocalization and interaction in the tumor microenvironment using topological analysis in spatial transcriptomics data22
Systematic comparison of published host gene expression signatures for bacterial/viral discrimination22
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response22
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing22
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions22
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations22
Unsupervised spatially embedded deep representation of spatial transcriptomics22
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts22
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR21
Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy21
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions21
Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants21
Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia21
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease21
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy21
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans wit20
Biological basis of extensive pleiotropy between blood traits and cancer risk20
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants20
Transcriptional signals of transformation in human cancer20
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles20
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits20
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis20
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease20
A genetic model for central chondrosarcoma evolution correlates with patient outcome20
Transcriptional signatures of the BCL2 family for individualized acute myeloid leukaemia treatment20
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma19
Application of a framework to guide genetic testing communication across clinical indications19
Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing19
Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma19
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing19
Finding associations in a heterogeneous setting: statistical test for aberration enrichment18
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses18
Advancing precision public health using human genomics: examples from the field and future research opportunities18
Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancer18
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion18
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome17
Genome-wide association studies identify novel genetic loci for epigenetic age acceleration among survivors of childhood cancer17
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations17
Predicting heterogeneity in clone-specific therapeutic vulnerabilities using single-cell transcriptomic signatures17
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance17
Diversity in EWAS: current state, challenges, and solutions17
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes17
DevKidCC allows for robust classification and direct comparisons of kidney organoid datasets17
Functional significance of gain-of-function H19 lncRNA in skeletal muscle differentiation and anti-obesity effects17
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets17
Ontology-aware deep learning enables ultrafast and interpretable source tracking among sub-million microbial community samples from hundreds of niches16
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms16
Historic methicillin-resistant Staphylococcus aureus: expanding current knowledge using molecular epidemiological characterization of a Swiss legacy collection16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts16
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis16
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma16
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers16
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression16
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause15
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer’s disease15
Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations15
Correction: Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women15
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy15
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk15
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression15
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles15
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension15
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery15
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital15
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology15
Correction: Genome Med 15, 115 & Genome Med 16, 315
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes15
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies15
The genomic architecture of EBV and infected gastric tissue from precursor lesions to carcinoma14
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes14
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy14
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits14
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data14
Integrated single-cell analysis reveals distinct epigenetic-regulated cancer cell states and a heterogeneity-guided core signature in tamoxifen-resistant breast cancer14
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice14
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