OOIR: Observatory of International Research

Papers

(The H4-Index of Human Molecular Genetics is 27. 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 2021-10-01 to 2025-10-01.)

Article	Citations
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	92
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	74
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	62
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	60
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	56
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	52
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	49
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	40
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	39
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	38
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	38
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	37
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	33
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	32
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	32
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	32
Macrophages: sentinels, warriors, and healers	31
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	31
Human Molecular Genetics Review Issue 2022	31
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	30
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	30
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	29
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	29
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	29
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	29

Brain multi-omic Mendelian randomisation to identify novel drug targets for gliomagenesis	28
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia	27
Genetic landscape of human mitochondrial genome using whole-genome sequencing	27
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease	27