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 2022-01-01 to 2026-01-01.)

Article	Citations
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	97
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	81
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	70
Human Molecular Genetics Review Issue 2022	65
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	58
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	50
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	42
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	41
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	40
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	37
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	35
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	34
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders	33
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	33
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	32
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis	32
Macrophages: sentinels, warriors, and healers	31
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	31
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	31
Exploring erythroid cell transcriptomics to understand regulation of fetal hemoglobin expression for advanced sickle cell disease treatment	30
Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression	30
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex	30
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer’s disease	29
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development	29
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model	28

The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome	27
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	27
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	27