Genome Medicine

Article	Citations
In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers	443
Pervasiveness of HLA allele-specific expression loss across tumor types	427
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients	364
Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries	166
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma	139
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping	135
Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics	132
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance	130
IFN-γ and TNF-α drive a CXCL10+ CCL2+ macrophage phenotype expanded in severe COVID-19 lungs and inflammatory diseases with tissue inflammation	124
Metagenomic prediction of antimicrobial resistance in critically ill patients with lower respiratory tract infections	120
Machine learning integrative approaches to advance computational immunology	120
The exceptions that prove the rule—a historical view of bedaquiline susceptibility	110
Trans-ethnic gut microbial signatures of prediabetic subjects from India and Denmark	110
A machine learning classifier using 33 host immune response mRNAs accurately distinguishes viral and non-viral acute respiratory illnesses in nasal swab samples	99
Transcriptomic perspectives of memory-like NK cells and aging	99
The genomic landscape of rare disorders in the Middle East	98
A validated heart-specific model for splice-disrupting variants in childhood heart disease	95
Annotation of cell types (ACT): a convenient web server for cell type annotation	93
Landscape and selection of vaccine epitopes in SARS-CoV-2	90
ReporTree: a surveillance-oriented tool to strengthen the linkage between pathogen genetic clusters and epidemiological data	90
Destination shapes antibiotic resistance gene acquisitions, abundance increases, and diversity changes in Dutch travelers	84
Loss of Y in leukocytes as a risk factor for critical COVID-19 in men	79
Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastoma	78
Identification of specific susceptibility loci for the early-onset colorectal cancer	78
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions	76

Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	72
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	71
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences	69
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	65
The role of admixture in the rare variant contribution to inflammatory bowel disease	65
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	64
Variability of polygenic prediction for body mass index in Africa	64
PheSeq, a Bayesian deep learning model to enhance and interpret the gene-disease association studies	64
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	59
Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved	59
The gut microbiota in multiple sclerosis varies with disease activity	58
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study	58
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	58
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes	55
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis	53
Analysis of admixed Greenlandic siblings shows that the mean genotypic values for metabolic phenotypes differ between Inuit and Europeans	53
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	52
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	51
Circulating bacterial signature is linked to metabolic disease and shifts with metabolic alleviation after bariatric surgery	50
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19	49
A mixture model for signature discovery from sparse mutation data	48
Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma	47
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	45
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer	44
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders	44
African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans	44
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	44
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	44
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	43
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma	43
Neoantigen DNA vaccines are safe, feasible, and induce neoantigen-specific immune responses in triple-negative breast cancer patients	43
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	42
Circular RNA landscape in extracellular vesicles from human biofluids	42
Comprehensive mapping of binding hot spots of SARS-CoV-2 RBD-specific neutralizing antibodies for tracking immune escape variants	41
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization	41
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility	41
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	41
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome	40
GenTB: A user-friendly genome-based predictor for tuberculosis resistance powered by machine learning	40
An introduction to spatial transcriptomics for biomedical research	40
Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility	40
Untargeted metabolomic profiling reveals molecular signatures associated with type 2 diabetes in Nigerians	39
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	39
Genome sequencing as a generic diagnostic strategy for rare disease	39
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	39
Guild-based analysis for understanding gut microbiome in human health and diseases	39
Metabolic control by the microbiome	38
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	38
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	38
Deep learning in cancer genomics and histopathology	38

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression	37
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	37
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	37
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer	37
Targeting CDC7 potentiates ATR-CHK1 signaling inhibition through induction of DNA replication stress in liver cancer	37
Explaining decisions of graph convolutional neural networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer	36
Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci	36
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions	36
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial	36
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters	36
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 study	36
Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative	35
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	34
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations	34
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	33
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	33
Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative	33
Epigenetic age and long-term cancer risk following a stroke	33
Whole genome sequencing-based classification of human-related Haemophilus species and detection of antimicrobial resistance genes	33
Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	32
Correction: Applicability of epigenetic age models to next-generation methylation arrays	32
Integrating pharmacogenomics and cheminformatics with diverse disease phenotypes for cell type-guided drug discovery	32
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data	32
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	31
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	31
Mendelian gene identification through mouse embryo viability screening	31
Whole genome sequencing reveals the independent clonal origin of multifocal ileal neuroendocrine tumors	31
Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer	31
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	31
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses	31
SRT-Server: powering the analysis of spatial transcriptomic data	31
Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy	31
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes	31
Evaluating the potential for respiratory metagenomics to improve treatment of secondary infection and detection of nosocomial transmission on expanded COVID-19 intensive care units	30
Intra-prostatic tumour evolution, steps in metastatic spread and histogenomic associations revealed by integration of multi-region whole-genome sequencing with histopathological features	30
pVACview: an interactive visualization tool for efficient neoantigen prioritization and selection	29
Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies	29
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 study	29
Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans	29
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	29
DNA demethylation triggers cell free DNA release in colorectal cancer cells	29
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	29
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	28
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	28
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	28
An epigenetic and transcriptomic signature of immune tolerance in human monocytes through multi-omics integration	27
Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study	27
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	27
An atlas of cell-type-specific interactome networks across 44 human tumor types	27
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	27
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	26
A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres	26
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer	26
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology	26
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores	26
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory	26
Unsupervised spatially embedded deep representation of spatial transcriptomics	25
Ancestry-driven metabolite variation provides insights into disease states in admixed populations	25
Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study	25
A meta-analysis of immune-cell fractions at high resolution reveals novel associations with common phenotypes and health outcomes	25
A lepidic gene signature predicts patient prognosis and sensitivity to immunotherapy in lung adenocarcinoma	24
Nanopore-based random genomic sampling for intraoperative molecular diagnosis	24
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders	24
Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits	24
Mendelian randomization and genetic colocalization infer the effects of the multi-tissue proteome on 211 complex disease-related phenotypes	24
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 burden	24
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	24
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer	23
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 models	23
Human reference gut microbiome catalog including newly assembled genomes from under-represented Asian metagenomes	23
Microglial PGC-1α protects against ischemic brain injury by suppressing neuroinflammation	23
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	23
An international policy on returning genomic research results	23
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years	23
A global cancer data integrator reveals principles of synthetic lethality, sex disparity and immunotherapy	23
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases	23
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	23
Prostate cancers with distinct transcriptional programs in Black and White men	22
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	22
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders	22

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases	22
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes	22
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	22
Non-canonical antigens are the largest fraction of peptides presented by MHC class I in mismatch repair deficient murine colorectal cancer	22
Somatic mutational profiles and germline polygenic risk scores in human cancer	22
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	22
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response	22
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	21
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants	21
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	21
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	21
Constructing germline research cohorts from the discarded reads of clinical tumor sequences	21
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort	20
Role of the intestinal microbiome and microbial-derived metabolites in immune checkpoint blockade immunotherapy of cancer	20
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	20
Distinct transcriptional programs stratify ovarian cancer cell lines into the five major histological subtypes	20
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia	20
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities	20
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	20
Human liver single nucleus and single cell RNA sequencing identify a hepatocellular carcinoma-associated cell-type affecting survival	20
Longitudinal multi-omics study of palbociclib resistance in HR-positive/HER2-negative metastatic breast cancer	20
Systematic comparison of published host gene expression signatures for bacterial/viral discrimination	20
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program	20
Elucidating the diversity of malignant mesenchymal states in glioblastoma by integrative analysis	19
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	19
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes	19
Genome-wide association studies identify novel genetic loci for epigenetic age acceleration among survivors of childhood cancer	19
Correction to: Understanding the impact of antibiotic perturbation on the human microbiome	19
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	19
Finding associations in a heterogeneous setting: statistical test for aberration enrichment	19
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	19
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	19
Correction to: Whole genome sequencing-based classifcation of human-related Haemophilus species and detection of antimicrobial resistance genes	19
Correction to: A role for the unfolded protein response stress sensor ERN1 in regulating the response to MEK inhibitors in KRAS mutant colon cancers	19
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study	19
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition	18
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers	18
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	18
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	18
Mendelian randomization analysis of 37 clinical factors and coronary artery disease in East Asian and European populations	18
Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma	18
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19	18
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses	18
Using multi-scale genomics to associate poorly annotated genes with rare diseases	17
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome	17
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	17
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 wit	17
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms	17
Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis	17
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	17
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	17
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits	17
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	16
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae	16
Single-cell RNA sequencing distinctly characterizes the wide heterogeneity in pediatric mixed phenotype acute leukemia	16
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts	16
Molecular features of untreated breast cancer and initial metastatic event inform clinical decision-making and predict outcome: long-term results of ESOPE, a single-arm prospective multicenter study	16
Cryopreservation of human cancers conserves tumour heterogeneity for single-cell multi-omics analysis	16
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer	16
Ontology-aware deep learning enables ultrafast and interpretable source tracking among sub-million microbial community samples from hundreds of niches	16
Advancing precision public health using human genomics: examples from the field and future research opportunities	16
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	16
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	16
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	16
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy	16
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice	15
A transcriptome-wide association study of Alzheimer’s disease using prediction models of relevant tissues identifies novel candidate susceptibility genes	15
Congruent microbiome signatures in fibrosis-prone autoimmune diseases: IgG4-related disease and systemic sclerosis	15
Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians	15
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients	15
Predicting heterogeneity in clone-specific therapeutic vulnerabilities using single-cell transcriptomic signatures	15
Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets	15
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	15
Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing	15
CACTUS: integrating clonal architecture with genomic clustering and transcriptome profiling of single tumor cells	14
Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study	14
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles	14
High-dimensional investigation of the cerebrospinal fluid to explore and monitor CNS immune responses	14
Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants	14
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance	14
Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancer	14
Diversity in EWAS: current state, challenges, and solutions	13
Biological basis of extensive pleiotropy between blood traits and cancer risk	13
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion	13
Comprehensive de novo mutation discovery with HiFi long-read sequencing	13
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing	13
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease	13
5′-tRF-GlyGCC: a tRNA-derived small RNA as a novel biomarker for colorectal cancer diagnosis	13
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis	13
Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy	13
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	12
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions	12
Sex differences in the polygenic architecture of hearing problems in adults	12
Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage	12
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes	12