OOIR: Observatory of International Research

Papers

(The median citation count of npj Genomic Medicine is 6. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese	121
The landscape of driver mutations in cutaneous squamous cell carcinoma	70
Best practices for the interpretation and reporting of clinical whole genome sequencing	67
Effective variant filtering and expected candidate variant yield in studies of rare human disease	57
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer	53
Ratio of the interferon-γ signature to the immunosuppression signature predicts anti-PD-1 therapy response in melanoma	52
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	46
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	43
Clinical utility of genomic sequencing: a measurement toolkit	39
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	38
Telomere biology disorders	37
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	37
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study	34
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases	31
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	30
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	30
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	29
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing	29
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	29
Application of full-genome analysis to diagnose rare monogenic disorders	27
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	25
Methylation risk scores are associated with a collection of phenotypes within electronic health record systems	24
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level	24
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders	24
A population study of clinically actionable genetic variation affecting drug response from the Middle East	23

Genetic basis of hypercholesterolemia in adults	23
Genetic discrimination: introducing the Asian perspective to the debate	23
Precision drugging of the MAPK pathway in head and neck cancer	23
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	22
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation	21
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	21
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy	21
Dissecting the multi-omics atlas of the exosomes released by human lung adenocarcinoma stem-like cells	21
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants	20
Pan-cancer analysis of transcripts encoding novel open-reading frames (nORFs) and their potential biological functions	20
Missense variant contribution to USP9X-female syndrome	20
Synaptosome microRNAs regulate synapse functions in Alzheimer’s disease	20
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	20
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies	19
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	19
Radiosensitivity index emerges as a potential biomarker for combined radiotherapy and immunotherapy	19
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays	19
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	18
HERVs establish a distinct molecular subtype in stage II/III colorectal cancer with poor outcome	18
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families	17
Contribution of rare variant associations to neurodegenerative disease presentation	17
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population	17
Pan-cancer characterization of lncRNA modifiers of immune microenvironment reveals clinically distinct de novo tumor subtypes	16
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	16
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	15
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	15
Rare versus common diseases: a false dichotomy in precision medicine	15
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy	15
Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma	15
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood	14
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	14
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance	14
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	14
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses	14
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer	14
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome	13
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression	13
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	13
Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer	12
Incidental findings from cancer next generation sequencing panels	12
The landscape and driver potential of site-specific hotspots across cancer genomes	12
Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study	12
The role of genetics in neurodegenerative dementia: a large cohort study in South China	12
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	12
Estimating the predictive power of silent mutations on cancer classification and prognosis	12
Alterations of 5-hydroxymethylation in circulating cell-free DNA reflect molecular distinctions of subtypes of non-Hodgkin lymphoma	12
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder	12
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder	12
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	12
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities	12

T-cell priming transcriptomic markers: implications of immunome heterogeneity for precision immunotherapy	12
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent	12
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder	12
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	12
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	12
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)	11
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence	11
Functional comparison of exome capture-based methods for transcriptomic profiling of formalin-fixed paraffin-embedded tumors	11
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	11
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq	11
Predicting cancer drug TARGETS - TreAtment Response Generalized Elastic-neT Signatures	11
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease	11
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD	11
SMAD6-deficiency in human genetic disorders	11
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine	11
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	11
Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma	11
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome	11
Association between genes regulating neural pathways for quantitative traits of speech and language disorders	10
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan	10
A novel deep intronic variant strongly associates with Alkaptonuria	10
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	10
Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease	10
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept	9
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay	9
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank	9
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	9
Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes	9
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies	9
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh	9
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	9
VHL mosaicism: the added value of multi-tissue analysis	9
Comprehensive characterization of posttranscriptional impairment-related 3′-UTR mutations in 2413 whole genomes of cancer patients	9
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	9
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	9
Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations	8
Pan-cancer atlas of somatic core and linker histone mutations	8
A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4	8
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia	8
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank	8
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor	8
Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	8
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity	8
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	8
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	8
Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment	8
Prognostic relevance of the hexosamine biosynthesis pathway activation in leiomyosarcoma	8
Convergence of biomarkers and risk factor trait loci of coronary artery disease at 3p21.31 and HLA region	8
The diagnostic trajectory of infants and children with clinical features of genetic disease	8
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas	8
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology	8
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases	8
The QChip1 knowledgebase and microarray for precision medicine in Qatar	8
Multiregional genetic evolution of metastatic uveal melanoma	8
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype	8
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese	8
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	7
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia	7
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	7
A universal molecular prognostic score for gastrointestinal tumors	7
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty	7
Lamin A/C missense variants: from discovery to functional validation	7
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders	7
Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases	6
Longitudinal and multi-tissue molecular diagnostics track somatic BRCA2 reversion mutations that correct the open reading frame of germline alteration upon clinical relapse	6
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome	6
Breaking the mold with RNA—a “RNAissance” of life science	6
Non-secretory multiple myeloma with unusual TFG-ALK fusion showed dramatic response to ALK inhibition	6
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	6
Co-design, implementation, and evaluation of plain language genomic test reports	6
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	6