Genome Medicine

Article	Citations
Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA	733
Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens	282
African ancestry-enriched variants in the GATM gene are associated with elevated serum creatinine levels	255
Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing	253
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases	242
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia	235
The role of admixture in the rare variant contribution to inflammatory bowel disease	167
Correction: Intricate interplay of CRISPR-Cas systems, anti-CRISPR proteins, and antimicrobial resistance genes in a globally successful multi-drug resistant Klebsiella pneumoniae clone	154
Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer	132
Pervasiveness of HLA allele-specific expression loss across tumor types	122
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)	103
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing	101
Leveraging new methods for comprehensive characterization of mitochondrial DNA in esophageal squamous cell carcinoma	99
The lung microbiome, peripheral gene expression, and recurrence-free survival after resection of stage II non-small cell lung cancer	94
Adult genomic medicine: lessons from a multisite study of 2700 patients	89
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data	89
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders	87
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications	83
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation	81
INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance	80
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers	80
DNA demethylation triggers cell free DNA release in colorectal cancer cells	77
Glioblastoma-instructed microglia transition to heterogeneous phenotypic states with phagocytic and dendritic cell-like features in patient tumors and patient-derived orthotopic xenografts	77
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes	75
Clinical characteristics and molecular heterogeneity in Follicular lymphoma with extranodal involvement	73

Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis	72
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders	72
Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy	71
Ethnic variations in metabolic syndrome components and their associations with the gut microbiota: the HELIUS study	67
Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation	66
The landcape of Helicobacter pylori-mediated DNA breaks links bacterial genotoxicity to its oncogenic potential	66
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations	64
Tracing carriage, acquisition, and transmission of ESBL-producing Escherichia coli over two years in a tertiary care hospital	64
The impact of the COVID-19 pandemic and associated lifestyle changes on early-life microbiome development	64
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution	63
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy	62
Diversity in EWAS: current state, challenges, and solutions	61
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase–deficient renal cell carcinoma	59
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes	58
Correction: Genome Med 15, 115 & Genome Med 16, 3	58
Full-spectral genome analysis of natural killer/T cell lymphoma highlights impacts of genome instability in driving its progression	58
Metabolome-wide Mendelian randomization for age at menarche and age at natural menopause	57
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure	57
Biological basis of extensive pleiotropy between blood traits and cancer risk	57
Cancer evolution and multi-omic profile of relapsed colorectal liver metastases after treatment	56
Identifying intra-hospital Norovirus GII transmission using whole-genome sequencing	55
Comprehensive pathogen identification and antimicrobial resistance prediction from positive blood cultures using nanopore sequencing technology	55
Neutralization sensitivity, fusogenicity, and infectivity of Omicron subvariants	55
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden	53
Single-nucleus RNA sequencing of human pancreatic islets identifies novel gene sets and distinguishes β-cell subpopulations with dynamic transcriptome profiles	52
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy	52
Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells	51
The telomere maintenance mechanism spectrum and its dynamics in gliomas	50
Single-cell transcriptomic analysis reveals tumor cell heterogeneity and immune microenvironment features of pituitary neuroendocrine tumors	50
Longitudinal analysis of genetic and environmental interplay in human metabolic profiles and the implication for metabolic health	50
DNA methylation memory of pancreatic acinar-ductal metaplasia transition state altering Kras-downstream PI3K and Rho GTPase signaling in the absence of Kras mutation	49
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate	49
Malaria-MOI: A flexible and scalable tool for predicting multiplicity of infection in malaria parasites	48
A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy	48
NeoGuider: neoepitope prediction using advanced feature engineering	47
Applications of long-read sequencing to Mendelian genetics	47
Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model	47
Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	46
The WID-CIN test identifies women with, and at risk of, cervical intraepithelial neoplasia grade 3 and invasive cervical cancer	46
High fluoroquinolone resistance proportions among multidrug-resistant tuberculosis driven by dominant L2 Mycobacterium tuberculosis clones in the Mumbai Metropolitan Region	46
Single-cell multimodal analysis identifies common regulatory programs in synovial fibroblasts of rheumatoid arthritis patients and modeled TNF-driven arthritis	46
Multi-label transcriptional classification of colorectal cancer reflects tumor cell population heterogeneity	46
In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression	45
Refining epigenetic prediction of chronological and biological age	45
Epigenomic preconditioning of peripheral monocytes determines their transcriptional response to the tumor microenvironment	44
Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome	44
Empirical evaluation of analytic validity of polygenic scores	44
Optimized high-throughput whole-genome sequencing workflow for surveillance of influenza A virus	44
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders	43
Multiomics assessment of lung adenocarcinoma subtypes defined through tumor purity-adjusted DNA methylation	43

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	43
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study	43
Correction: Acetyl-CoA metabolism drives epigenome change and contributes to carcinogenesis risk in fatty liver disease	43
Influence network model uncovers relations between biological processes and mutational signatures	43
The TyphiNET data visualisation dashboard: unlocking Salmonella Typhi genomics data to support public health	41
Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease	39
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours	39
Detection of primary cancer types via fragment size selection in circulating cell-free extrachromosomal circular DNA	39
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors	38
Integrated study of systemic and local airway transcriptomes in asthma reveals causal mediation of systemic effects by airway key drivers	37
A robust deep learning workflow to predict CD8 + T-cell epitopes	37
Applicability of epigenetic age models to next-generation methylation arrays	37
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy	37
Neutralising reactivity against SARS-CoV-2 Delta and Omicron variants by vaccination and infection history	37
Prematurity and genetic liability for autism spectrum disorder	36
Identification of novel protein biomarkers and drug targets for colorectal cancer by integrating human plasma proteome with genome	36
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy	35
Prioritizing genes associated with brain disorders by leveraging enhancer-promoter interactions in diverse neural cells and tissues	35
Clinical and bacterial determinants of unfavorable tuberculosis treatment outcomes: an observational study in Georgia	35
Plasma microRNA signatures of aging and their links to health outcomes and mortality: findings from a population-based cohort study	34
EMB is essential for enteric nervous system development mediated by PI3K signaling	34
imply: improving cell-type deconvolution accuracy using personalized reference profiles	34
Typhi Mykrobe: fast and accurate lineage identification and antimicrobial resistance genotyping directly from sequence reads for the typhoid fever agent Salmonella Typhi	33
SARS-CoV-2 infection induces a long-lived pro-inflammatory transcriptional profile	33
MorphoITH: a framework for deconvolving intra-tumor heterogeneity using tissue morphology	33
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation	33
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach	33
Microglial heterogeneity in the ischemic stroke mouse brain of both sexes	33
Addressing the routine failure to clinically identify monogenic cases of common disease	32
Knockout mice with pituitary malformations help identify human cases of hypopituitarism	32
Multimodal-based analysis of single-cell ATAC-seq data enables highly accurate delineation of clinically relevant tumor cell subpopulations	31
A bench-to-data analysis workflow for respiratory syncytial virus whole-genome sequencing with short and long-read approaches	30
Post-vaccine epidemiology of serotype 3 pneumococci identifies transformation inhibition through prophage-driven alteration of a non-coding RNA	30
STModule: identifying tissue modules to uncover spatial components and characteristics of transcriptomic landscapes	30
Multi-omics reveals cholesterol-driven macrophage metabolic reprogramming and inflammation in chronic obstructive pulmonary disease	30
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease	30
Identification of a cytokine-dominated immunosuppressive class in squamous cell lung carcinoma with implications for immunotherapy resistance	30
Polygenic risk for Alzheimer’s disease in healthy aging: age-related and APOE-driven effects on brain structures and cognition	29
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing	29
Meta-analysis identifies common gut microbiota associated with multiple sclerosis	28
Multi-omics uncovers immune-modulatory molecules in plasma contributing to resistance exercise-ameliorated locomotor disability after incomplete spinal cord injury	28
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic	28
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis	28
Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women	28
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young	28
A dynamic single cell-based framework for digital twins to prioritize disease genes and drug targets	28
Genome sequencing as a generic diagnostic strategy for rare disease	28
Identification of specific susceptibility loci for the early-onset colorectal cancer	28
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification	27
Proteomic landscape analysis of undifferentiated pleomorphic sarcoma	27
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos	27
A new method for detecting mixed Mycobacterium tuberculosis infection and reconstructing constituent strains provides insights into transmission	26
Spatiotemporal single-cell analysis elucidates the cellular and molecular dynamics of human cornea aging	26
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families	26
Spatial multi-omics characterization of neuroblastoma reveals ferroptosis-associated metabolic features in high-risk tumors	26
The emergence of highly resistant and hypervirulent Klebsiella pneumoniae CC14 clone in a tertiary hospital over 8 years	25
Metronidazole response profiles of Gardnerella species are congruent with phylogenetic and comparative genomic analyses	25
The case for including proteomics in routine diagnostic practice for rare disease	25
Smoking-associated gene expression alterations in nasal epithelium reveal immune impairment linked to lung cancer risk	25
Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor	25
Personalized transcriptional network analysis links age-related loss of gene coordination to individual biological aging	25
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA	25
Long-term persistence of diverse clones shapes the transmission landscape of invasive Listeria monocytogenes	25
A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease	24
Accumulation of copy number alterations and clinical progression across advanced prostate cancer	24
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects	24
Gut microbiota predicts body fat change following a low-energy diet: a PREVIEW intervention study	24
Co-occurrence of transcriptionally distinct persister cell states underpins neoadjuvant therapy resistance in triple‑negative breast cancer	23
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data	23
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	23
Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis	23
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies	23
Identification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation	23
Location and condition based reconstruction of colon cancer microbiome from human RNA sequencing data	23
Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian randomization approaches	23
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery	22
Single base focal hypermutation cooccurs with structural variation as an early event in advanced prostate tumourigenesis with ancestry specific independence: a multi-ancestral observational study	22
Using multi-scale genomics to associate poorly annotated genes with rare diseases	22
Disease-specific epigenetic deregulation of enhancers, transposons, and polycomb targets in acute promyelocytic leukemia	22
Multi-omics reveals key molecular and cellular features of advanced small cell lung cancers associated with distinct therapeutic opportunities	22

Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence	22
Intratumor heterogeneity and T cell exhaustion in primary CNS lymphoma	22
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction	21
Therapy sculpts the complex interplay between cancer and the immune system during tumour evolution	21
A computational framework for sensitive tumor detection and accurate subtyping using shallow cell-free DNA methylome sequencing	21
Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial	21
Keeping up with the pathogens: improved antimicrobial resistance detection and prediction from Pseudomonas aeruginosa genomes	21
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes	21
Life Identification Number (LIN) codes for the genomic taxonomy of Corynebacterium diphtheriae strains	21
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study	21
An expedited screening platform for the discovery of anti-ageing compounds in vitro and in vivo	21
Defining type 2 diabetes polygenic risk scores through colocalization and network-based clustering of metabolic trait genetic associations	21
Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype	21
A genome-based survey of invasive pneumococci in Norway over four decades reveals lineage-specific responses to vaccination	20
Single-cell profiling of response to neoadjuvant chemo-immunotherapy in surgically resectable esophageal squamous cell carcinoma	20
Impact of genetic risk and lifestyles on cardiovascular disease-free and total life expectancy: a cohort study	20
Building digital histology models of transcriptional tumor programs with generative deep learning for pathology-based precision medicine	20
Genomic landscape of endometrial polyps	20
Effect of clonal hematopoiesis on plaque morphology and prognosis in patients with acute myocardial infarction	20
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity	20
SARS-CoV-2 population dynamics in immunocompetent individuals in a closed transmission chain shows genomic diversity over the course of infection	20
Aligned cross-modal integration and regulatory heterogeneity characterization of single-cell multiomic data with deep contrastive learning	20
PredIG: an interpretable predictor of T-cell epitope immunogenicity	20
The clinical utility of rapid exome sequencing in a consanguineous population	19
Spatial-reprogramming derived GPNMB+ macrophages interact with COL6A3+ fibroblasts to enhance vascular fibrosis in glioblastoma	19
Race-specific coregulatory and transcriptomic profiles associated with DNA methylation and androgen receptor in prostate cancer	19
Genomic characterisation of recurrent Mycobacterium avium isolates from chronically infected patients reveals patterns of within-host evolution	19
Predicting MHC-I ligands across alleles and species: how far can we go?	19
SpaPheno: linking spatial transcriptomics to clinical phenotypes with interpretable machine learning	19
CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing	19
mRNA-based precision targeting of neoantigens and tumor-associated antigens in malignant brain tumors	19
Single cell multiomics revealed fibrotic trajectories of endometrial cells and interaction with the pro-fibrotic macrophages in intrauterine adhesion	18
Single-cell profiling of human dura and meningioma reveals cellular meningeal landscape and insights into meningioma immune response	18
Development of a consensus molecular classifier for pancreatic ductal adenocarcinoma	18
Comparative genomics identifies small interfering RNA with activity against all five human betacoronaviruses	18
Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression	18
Cell-type-specific subtyping of epigenomes improves prognostic stratification of cancer	18
Genome Tunisia Project: paving the way for precision medicine in North Africa	18
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping	18
Rare copy-number variants as modulators of common disease susceptibility	18
Single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer tumors	18
Identifying latent genetic interactions in genome-wide association studies using multiple traits	17
Correction: FOXC1-mediated LINC00301 facilitates tumor progression and triggers an immune-suppressing microenvironment in non-small cell lung cancer by regulating the HIF1α pathway	17
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD	17
Clinical and genomic features of Mycobacterium avium complex: a multi-national European study	17
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set	17
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort	17
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease	17
Spatiotemporal evolution of the clear cell renal cell carcinoma microenvironment links intra-tumoral heterogeneity to immune escape	17
Illuminating links between cis-regulators and trans-acting variants in the human prefrontal cortex	17
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer	17
KleTy: integrated typing scheme for core genome and plasmids reveals repeated emergence of multi-drug resistant epidemic lineages in Klebsiella worldwide	16
Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network	16
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically	16
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning	16
Discriminating activating, deactivating and resistance variants in protein kinases	16
Molecular profiling of the Basal-like intrinsic molecular subtype in primary ER-positive HER2-negative breast cancer	16
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes	15
Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury	15
RNA polymerase I is essential for driving the formation of 3D genome in early embryonic development in mouse, but not in human	15
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies	15
CTpathway: a CrossTalk-based pathway enrichment analysis method for cancer research	15
The gut microbiota in multiple sclerosis varies with disease activity	15
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination	15
Recommendations for bioinformatics in clinical practice	15
PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation	15
Attention-based deep learning for analysis of pathology images and gene expression data in lung squamous premalignant lesions	15
The genetics and epidemiology of N- and O-immunoglobulin A glycomics	15
Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment	15
The CXCL16/CXCR6 axis is linked to immune effector cell-associated neurotoxicity in chimeric antigen receptor (CAR) T cell therapy	15
Correction: Rapid molecular diagnostics of tuberculosis resistance by targeted stool sequencing	15
Utilizing genomics to identify novel immunotherapeutic targets in multiple myeloma high-risk subgroups	15
An atlas of cell-type-specific interactome networks across 44 human tumor types	15
Global survey of extraintestinal pathogenic Escherichia coli identifies stable serogroup-virulence-resistance linkages	14
Mechanistic insights into the interactions between cancer drivers and the tumour immune microenvironment	14
Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence	14
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing	14
Unsupervised spatially embedded deep representation of spatial transcriptomics	14
Prostate cancers with distinct transcriptional programs in Black and White men	14
Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status	14
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations	14
Molecular profiling of human non-small cell lung cancer by single-cell RNA-seq	14
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study	14
Single-cell analysis of immune and stroma cell remodeling in clear cell renal cell carcinoma primary tumors and bone metastatic lesions	14
Genomic surveillance of multidrug-resistant organisms based on long-read sequencing	14
Transcriptional signals of transformation in human cancer	14
Comprehensive de novo mutation discovery with HiFi long-read sequencing	13
Multi-centered T cell repertoire profiling identifies alterations in the immune repertoire of individuals with inflammatory bowel disease across different disease stages	13
Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders	13
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser	13
A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations	13
A tool for CRISPR-Cas9 sgRNA evaluation based on computational models of gene expression	13
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci	13
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition	13
Genome instability and crosstalk with the immune response	13