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 2021-04-01 to 2025-04-01.)

Article	Citations
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease	89
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	79
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma	74
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes	58
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review	48
Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia	47
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	44
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension	42
Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes	41
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals	40
The diagnostic trajectory of infants and children with clinical features of genetic disease	36
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	35
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome	34
Lamin A/C missense variants: from discovery to functional validation	33
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing	32
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	32
Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics	31
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	30
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	29
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	29
Medicine and health of 21st Century: Not just a high biotech-driven solution	28
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer	27
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	27
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	27
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	27

Future implications of polygenic risk scores for life insurance underwriting	26
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes	25
Efficient reinterpretation of rare disease cases using Exomiser	25
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	24
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer	23
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	23
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities	22
Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank	22
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	22
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	21
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	21
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	19
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept	19
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	19
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	18
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	18
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	18
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer	17
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	17
SMAD6-deficiency in human genetic disorders	17
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	17
VHL mosaicism: the added value of multi-tissue analysis	17
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	16
Dissecting the multi-omics atlas of the exosomes released by human lung adenocarcinoma stem-like cells	16
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	16
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model	15
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	15
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	15
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort	15
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	15
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	15
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	15
The landscape of driver mutations in cutaneous squamous cell carcinoma	15
Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes	14
Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet	14
Systematic decision frameworks for the socially responsible use of precision medicine	14
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	14
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	14
Author Correction: Genetic basis of hypercholesterolemia in adults	14
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer	14
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone	14
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	14
Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	14
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	14
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	13
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	13
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy	13
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	13
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	13
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	13

Clinical and genetic characterization of patients with late onset Wilson’s disease	12
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	12
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	12
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	12
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	12
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	12
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number	12
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	11
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders	11
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese	11
LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome	11
Characterizing the pathogenicity of genetic variants: the consequences of context	11
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	11
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	11
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	11
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	11
Structural variation of the coding and non-coding human pharmacogenome	11
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	11
The role of genetics in neurodegenerative dementia: a large cohort study in South China	11
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing	10
Precision drugging of the MAPK pathway in head and neck cancer	10
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD	10
Predicting cancer drug TARGETS - TreAtment Response Generalized Elastic-neT Signatures	10
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation	10
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	10
Polygenic height prediction for the Han Chinese in Taiwan	10
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	10
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders	10
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome	10
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder	10
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays	10
Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment	9
The QChip1 knowledgebase and microarray for precision medicine in Qatar	9
Multiregional genetic evolution of metastatic uveal melanoma	9
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	9
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19	9
Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma	9
MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence	9
Ethically utilising COVID-19 host-genomic data	8
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	8
Breaking the mold with RNA—a “RNAissance” of life science	8
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia	8
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood	8
Prognostic relevance of the hexosamine biosynthesis pathway activation in leiomyosarcoma	8
Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences	8
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty	8
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer	8
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)	8
Smoking shifts human small airway epithelium club cells toward a lesser differentiated population	8
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor	8
Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease	8
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients	8
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma	7
Co-design, implementation, and evaluation of plain language genomic test reports	7
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	7
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine	7
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	7
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand	7
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	7
Author Correction: Accurate detection of circulating tumor DNA using nanopore consensus sequencing	7
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	7
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts	7
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype	7
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes	7
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	7
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	7
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	7
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome	6
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan	6
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	6
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing	6
A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change	6
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	6