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 2020-04-01 to 2024-04-01.)

Article	Citations
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese	100
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease	65
Pharmacogenomics of COVID-19 therapies	59
The landscape of driver mutations in cutaneous squamous cell carcinoma	53
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis	50
Effective variant filtering and expected candidate variant yield in studies of rare human disease	49
Best practices for the interpretation and reporting of clinical whole genome sequencing	46
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer	46
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration	42
Ratio of the interferon-γ signature to the immunosuppression signature predicts anti-PD-1 therapy response in melanoma	42
Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants	39
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	38
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses	37
Children’s rare disease cohorts: an integrative research and clinical genomics initiative	37
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	36
Clinical utility of genomic sequencing: a measurement toolkit	36
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping	34
Telomere biology disorders	30
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	29
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	29
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study	28
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases	27
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	27
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing	26
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	25

The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations	24
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility	24
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	23
Application of full-genome analysis to diagnose rare monogenic disorders	22
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases	20
A population study of clinically actionable genetic variation affecting drug response from the Middle East	20
Precision drugging of the MAPK pathway in head and neck cancer	20
Genetic basis of hypercholesterolemia in adults	20
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	19
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level	19
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation	19
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies	19
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	19
Missense variant contribution to USP9X-female syndrome	18
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy	18
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays	18
Genetic discrimination: introducing the Asian perspective to the debate	18
Dissecting the multi-omics atlas of the exosomes released by human lung adenocarcinoma stem-like cells	18
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants	18
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	18
Methylation risk scores are associated with a collection of phenotypes within electronic health record systems	17
HERVs establish a distinct molecular subtype in stage II/III colorectal cancer with poor outcome	17
Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources	17
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders	17
Pan-cancer analysis of transcripts encoding novel open-reading frames (nORFs) and their potential biological functions	17
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	17
Radiosensitivity index emerges as a potential biomarker for combined radiotherapy and immunotherapy	16
Improved detection of tumor suppressor events in single-cell RNA-Seq data	16
Association of CNVs with methylation variation	16
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	16
19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis	16
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	15
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	15
Pan-cancer characterization of lncRNA modifiers of immune microenvironment reveals clinically distinct de novo tumor subtypes	15
Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping	14
Contribution of rare variant associations to neurodegenerative disease presentation	14
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population	14
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	13
Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping	13
Rare versus common diseases: a false dichotomy in precision medicine	13
STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses	13
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	13
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy	13
Diagnostic utility of whole-genome sequencing for nephronophthisis	13
Synaptosome microRNAs regulate synapse functions in Alzheimer’s disease	12
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes	12
MutSpot: detection of non-coding mutation hotspots in cancer genomes	12
Genes and genomes and unnecessary complexity in precision medicine	12
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families	12
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer	12