OOIR: Observatory of International Research

Papers

(The TQCC of npj Genomic Medicine is 12. 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
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	30
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	30
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	29
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
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
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders	24
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
Genetic discrimination: introducing the Asian perspective to the debate	23

Precision drugging of the MAPK pathway in head and neck cancer	23
A population study of clinically actionable genetic variation affecting drug response from the Middle East	23
Genetic basis of hypercholesterolemia in adults	23
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	22
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
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation	21
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	20
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
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
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
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
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population	17
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
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	16
Pan-cancer characterization of lncRNA modifiers of immune microenvironment reveals clinically distinct de novo tumor subtypes	16
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
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
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
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
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
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome	13
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
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