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 2020-04-01 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
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer	46
Best practices for the interpretation and reporting of clinical whole genome sequencing	46
Ratio of the interferon-γ signature to the immunosuppression signature predicts anti-PD-1 therapy response in melanoma	42
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration	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
Children’s rare disease cohorts: an integrative research and clinical genomics initiative	37
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses	37
Clinical utility of genomic sequencing: a measurement toolkit	36
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	36
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping	34
Telomere biology disorders	30
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer	29
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	29
Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study	28
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders	27
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases	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
Genetic basis of hypercholesterolemia in adults	20
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
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
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	19
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
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
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
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
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
Radiosensitivity index emerges as a potential biomarker for combined radiotherapy and immunotherapy	16
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
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	15
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population	14
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
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
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
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
Synaptosome microRNAs regulate synapse functions in Alzheimer’s disease	12
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes	12

Alterations of 5-hydroxymethylation in circulating cell-free DNA reflect molecular distinctions of subtypes of non-Hodgkin lymphoma	11
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance	11
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	11
Incidental findings from cancer next generation sequencing panels	11
Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study	11
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression	11
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	11
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence	10
Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma	10
Estimating the predictive power of silent mutations on cancer classification and prognosis	10
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood	10
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)	10
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	10
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent	10
MACROD2 deficiency promotes hepatocellular carcinoma growth and metastasis by activating GSK-3β/β-catenin signaling	10
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease	10
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	10
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder	10
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	9
Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma	9
The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder	9
Predicting cancer drug TARGETS - TreAtment Response Generalized Elastic-neT Signatures	9
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	9
Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome	9
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder	9
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome	9
Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease	8
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	8
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies	8
Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank	8
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder	8
Prognostic relevance of the hexosamine biosynthesis pathway activation in leiomyosarcoma	8
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	8
Association between genes regulating neural pathways for quantitative traits of speech and language disorders	8
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas	8
The landscape and driver potential of site-specific hotspots across cancer genomes	8
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh	8
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq	8
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	8
Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes	8
A novel deep intronic variant strongly associates with Alkaptonuria	8
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay	8
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD	8
Functional comparison of exome capture-based methods for transcriptomic profiling of formalin-fixed paraffin-embedded tumors	8
Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment	8
Multiregional genetic evolution of metastatic uveal melanoma	8
Erlotinib sensitivity of MAPK1p.D321N mutation in head and neck squamous cell carcinoma	8
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	7
Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	7
VHL mosaicism: the added value of multi-tissue analysis	7
Comprehensive characterization of posttranscriptional impairment-related 3′-UTR mutations in 2413 whole genomes of cancer patients	7
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity	7
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	7
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders	7
The diagnostic trajectory of infants and children with clinical features of genetic disease	7
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities	7
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases	7
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	7
The role of genetics in neurodegenerative dementia: a large cohort study in South China	7
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	7
Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations	7
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	6
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype	6
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping	6
Non-secretory multiple myeloma with unusual TFG-ALK fusion showed dramatic response to ALK inhibition	6
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	6
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	6
A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4	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
Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study	6
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept	6
A universal molecular prognostic score for gastrointestinal tumors	6
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome	6
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine	6
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese	6
Convergence of biomarkers and risk factor trait loci of coronary artery disease at 3p21.31 and HLA region	6
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	6
Lamin A/C missense variants: from discovery to functional validation	6