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 2021-06-01 to 2025-06-01.)

Article	Citations
Human Molecular Genetics Review Issue 2022	80
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	68
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	56
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	53
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	49
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	49
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy	48
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation	45
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	44
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	44
The novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype	44
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	41
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding	38
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	37
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	37
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	35
Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome	35
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	35
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	34
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	31
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	31
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	30
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	30
Deep structure of DNA for genomic analysis	29
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation ofOBFC1	29

CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	28
Prenatal inflammation as a link between placental expression signature of tryptophan metabolism and preterm birth	28
Genetic landscape of human mitochondrial genome using whole-genome sequencing	28
Prioritization and functional analysis of GWAS risk loci for Barrett’s esophagus and esophageal adenocarcinoma	28
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	28
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease	28
The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	28
Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function	28
Integrative multi-omics database (iMOMdb) of Asian pregnant women	28