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 2021-08-01 to 2025-08-01.)

Article	Citations
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	85
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	70
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	58
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	56
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	55
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	54
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	52
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	47
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy	47
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	44
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	40
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	39
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	37
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	36
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	33
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	33
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	31
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	31
Human Molecular Genetics Review Issue 2022	30
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	30
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	30
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	29
Macrophages: sentinels, warriors, and healers	29
Deep structure of DNA for genomic analysis	29
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	29

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	28
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	28
Prioritization and functional analysis of GWAS risk loci for Barrett’s esophagus and esophageal adenocarcinoma	28
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	28