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 2022-08-01 to 2026-08-01.)

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	84
Correction to: G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain	58
Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death	56
Expression of Concern: Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation	45
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	44
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis	42
Human Molecular Genetics Review Issue 2022	41
Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity	40
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	40
Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease	38
TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development	37
Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and	37
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes	36
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome	35
Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy	35
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations	35
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease	32
Macrophages: sentinels, warriors, and healers	32
Plasticity and structural alterations of mitochondria and sarcoplasmic organelles in muscles of mice deficient in α-dystrobrevin, a component of the dystrophin-glycoprotein complex	31
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology	31
CRISPR-Cas9-driven antigen conversion of clinically relevant blood group systems	30
Lack of evidence for GWAS signals of exfoliation glaucoma working via monogenic loss-of-function mutation in the nearest gene	30
Fostering diversity in global genomics: a South Asian perspective	30
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic	28
A microbiome quantitative trait locus in SLC39A8 modulates disease severity in synucleinopathy-induced models of Parkinson’s disease	28

Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling	28
The role of CNBP in brain atrophy and its targeting in myotonic dystrophy type 2	27
Identification of multi-omic pleiotropy factors for peripheral artery disease	27