OOIR: Observatory of International Research

Papers

(The H4-Index of Human Molecular Genetics is 28. 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
LRP8 inhibits bladder cancer cell ferroptosis by activating the Wnt/β-catenin-SCD1 positive feedback loop	75
UBE2S, downregulated by miR-152-3p, facilitates prostate cancer progression through the PTEN-mediated AKT/mTOR pathway	62
Study on the metastatic mechanism of LINC00115 in adenocarcinoma of the Esophagogastric junction	54
New selective androgen receptor modulator TEI-SARM2 improves muscle function in a Duchenne muscular dystrophy rat model	51
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell mode	47
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	45
An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis	45
A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts	43
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells	43
Correction to: Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease	42
Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis	41
Correction to: “Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using	41
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes	38
Melanoma-associated fibroblasts in tumor-promotion flammation and antitumor immunity: novel mechanisms and potential immunotherapeutic strategies	36
Protective effects of a small molecule inhibitor ligand against hyperphosphorylated tau-induced mitochondrial and synaptic toxicities in Alzheimer disease	34
Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons	34
The progranulin cleavage product granulin 3 exerts a dominant negative effect on animal fitness	33
Co-methylation analyses identify CpGs associated with lipid traits in Chinese discordant monozygotic twins	33
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity	33
Epigenomic profiling of the infrapatellar fat pad in osteoarthritis	31
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington’s disease model	31
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	30
Identification of CAF-related lncRNAs at the pan-cancer level represents a potential carcinogenic risk	29
Decoding the Enigma: Translation Termination in Human Mitochondria	29
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts	29

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	29
A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy	28
The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population	28
Placental endocrine insufficiency programs anxiety, deficits in cognition and atypical social behaviour in offspring	28