Genome Medicine

Papers
(The median citation count of Genome Medicine is 9. 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 2021-11-01 to 2025-11-01.)
ArticleCitations
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone596
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases248
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing214
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA198
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)191
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer187
Pervasiveness of HLA allele-specific expression loss across tumor types175
The role of admixture in the rare variant contribution to inflammatory bowel disease172
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens142
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma130
DNA demethylation triggers cell free DNA release in colorectal cancer cells121
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications114
Adult genomic medicine: lessons from a multisite study of 2700 patients111
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes104
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy99
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement85
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders83
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers82
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation79
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation77
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data76
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential76
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts73
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance69
The vaginal microbiota and innate immunity after local excisional treatment for cervical intraepithelial neoplasia68
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study68
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer68
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis67
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants67
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders66
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital65
Correction: Genome Med 15, 115 & Genome Med 16, 362
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution60
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma58
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells56
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden55
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles55
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression54
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause52
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health52
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure52
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy51
Biological basis of extensive pleiotropy between blood traits and cancer risk51
Diversity in EWAS: current state, challenges, and solutions50
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology49
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes49
The effects of the Green-Mediterranean diet on cardiometabolic health are linked to gut microbiome modifications: a randomized controlled trial47
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease47
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants47
The telomere maintenance mechanism spectrum and its dynamics in gliomas47
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity47
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate47
Refining epigenetic prediction of chronological and biological age46
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer46
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors45
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis45
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region44
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment44
Longitudinal analysis within one hospital in sub-Saharan Africa over 20 years reveals repeated replacements of dominant clones of Klebsiella pneumoniae and stresses the importance to include temporal 44
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation44
Optimized high-throughput whole-genome sequencing workflow for surveillance of influenza A virus44
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy43
Applicability of epigenetic age models to next-generation methylation arrays43
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease43
Applications of long-read sequencing to Mendelian genetics43
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health41
A robust deep learning workflow to predict CD8 + T-cell epitopes41
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers41
T cell receptor beta germline variability is revealed by inference from repertoire data40
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours40
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease40
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history39
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome39
Prematurity and genetic liability for autism spectrum disorder39
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy39
MorphoITH: a framework for deconvolving intra-tumor heterogeneity using tissue morphology38
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors38
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine38
Influence network model uncovers relations between biological processes and mutational signatures38
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study38
EMB is essential for enteric nervous system development mediated by PI3K signaling37
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study37
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues37
imply: improving cell-type deconvolution accuracy using personalized reference profiles37
Addressing the routine failure to clinically identify monogenic cases of common disease36
PLCG2 is associated with the inflammatory response and is induced by amyloid plaques in Alzheimer’s disease36
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile36
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach36
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes36
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation36
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes35
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury35
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy35
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease34
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young34
Genome sequencing as a generic diagnostic strategy for rare disease34
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing34
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance34
Meta-analysis identifies common gut microbiota associated with multiple sclerosis34
Knockout mice with pituitary malformations help identify human cases of hypopituitarism34
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis33
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA33
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets32
Germline HLA-B evolutionary divergence influences the efficacy of immune checkpoint blockade therapy in gastrointestinal cancer31
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic31
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification31
Polygenic risk for Alzheimer’s disease in healthy aging: age-related and APOE-driven effects on brain structures and cognition31
Identification of specific susceptibility loci for the early-onset colorectal cancer31
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women31
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes30
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission30
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk30
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses30
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years29
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos29
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA29
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging29
The case for including proteomics in routine diagnostic practice for rare disease29
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort28
Personalized transcriptional network analysis links age-related loss of gene coordination to individual biological aging28
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data28
Using multi-scale genomics to associate poorly annotated genes with rare diseases28
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 wit28
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches28
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor28
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes27
Disease-specific epigenetic deregulation of enhancers, transposons, and polycomb targets in acute promyelocytic leukemia27
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery27
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data27
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies27
Accumulation of copy number alterations and clinical progression across advanced prostate cancer27
Identification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation27
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma27
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease26
Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence26
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study25
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing25
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo25
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study25
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination25
Microbiota of the prostate tumor environment investigated by whole-transcriptome profiling25
An 8-gene machine learning model improves clinical prediction of severe dengue progression25
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis25
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection25
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial24
Building digital histology models of transcriptional tumor programs with generative deep learning for pathology-based precision medicine24
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction24
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes24
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes24
Genomic landscape of endometrial polyps23
Genome-wide identification and characterization of circular RNA m6A modification in pancreatic cancer23
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution23
Clinical implementation of RNA sequencing for Mendelian disease diagnostics23
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations23
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing22
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity22
The clinical utility of rapid exome sequencing in a consanguineous population22
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma22
Genomic characterisation of recurrent Mycobacterium avium isolates from chronically infected patients reveals patterns of within-host evolution22
RNA profiling of blood platelets noninvasively differentiates colorectal cancer from healthy donors and noncancerous intestinal diseases: a retrospective cohort study22
Genome Tunisia Project: paving the way for precision medicine in North Africa21
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study21
Effect of clonal hematopoiesis on plaque morphology and prognosis in patients with acute myocardial infarction21
Predicting MHC-I ligands across alleles and species: how far can we go?21
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology20
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response20
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer20
Spatial-reprogramming derived GPNMB+ macrophages interact with COL6A3+ fibroblasts to enhance vascular fibrosis in glioblastoma20
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD19
Identifying latent genetic interactions in genome-wide association studies using multiple traits19
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors19
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway19
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex19
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping19
Patient-focused pathogen genetic counselling—has the time come?19
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape19
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set19
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer18
Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression18
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease18
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer18
Rare copy-number variants as modulators of common disease susceptibility18
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide18
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study18
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare18
Discriminating activating, deactivating and resistance variants in protein kinases17
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning17
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors17
Inter-species geographic signatures for tracing horizontal gene transfer and long-term persistence of carbapenem resistance17
Recommendations for bioinformatics in clinical practice17
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes17
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically17
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort17
The gut microbiota in multiple sclerosis varies with disease activity17
The genetics and epidemiology of N- and O-immunoglobulin A glycomics17
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination17
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-1917
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy16
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury16
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network16
Prostate cancers with distinct transcriptional programs in Black and White men16
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment16
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study16
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human16
Unsupervised spatially embedded deep representation of spatial transcriptomics15
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies15
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions15
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations15
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups15
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence15
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation15
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing15
An atlas of cell-type-specific interactome networks across 44 human tumor types15
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing15
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing14
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research14
Somatic mutational profiles and germline polygenic risk scores in human cancer14
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits14
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq14
Preventing disease progression in multiple sclerosis—insights from large real-world cohorts14
Transcriptional signals of transformation in human cancer13
Correction: Single-nucleus transcriptomics reveals a distinct microglial state and increased MSR1-mediated phagocytosis as common features across dementia subtypes13
Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits13
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci13
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition13
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing13
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome13
Comprehensive de novo mutation discovery with HiFi long-read sequencing13
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers13
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy13
Associations between HLA-II variation and antibody specificity are predicted by antigen properties13
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression13
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations13
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders12
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser12
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers12
Microbiome-based prediction of allogeneic hematopoietic stem cell transplantation outcome12
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts12
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy12
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss12
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery12
Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants12
Whole genome sequencing of 378 prostate cancer metastases reveals tissue selectivity for mismatch deficiency with potential therapeutic implications12
Phylogenomic insights into evolutionary trajectories of multidrug resistant S. pneumoniae CC271 over a period of 14 years in China12
Genomic and functional analysis of rmp locus variants in Klebsiella pneumoniae11
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance11
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human11
Multi-scale characterisation of homologous recombination deficiency in breast cancer11
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes11
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