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 2021-05-01 to 2025-05-01.)

Article	Citations
Human Molecular Genetics Review Issue 2022	79
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	66
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	55
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	52
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	48
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	48
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	46
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	44
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	44
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	43
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	42
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	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	38
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy	37
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	36
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	36
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	34
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation	34
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders	34
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	33
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	29
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	29
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	29
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	29
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	29

Deep structure of DNA for genomic analysis	28
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome	28
Non-canonical initiation factors modulate repeat-associated non-AUG translation	28
NovelLRRK2mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors	28