OOIR: Observatory of International Research

Papers

(The H4-Index of Human Molecular Genetics is 26. 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 2021-02-01 to 2025-02-01.)

Article	Citations
Evolutionary genomics in Africa	60
Placental endocrine insufficiency programs anxiety, deficits in cognition and atypical social behaviour in offspring	50
Correction to: Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes	49
A combinatorial approach increases SMN level in SMA model mice	48
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function	44
Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome	41
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach	40
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder	37
Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility	36
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder	36
De novovariants cause complex symptoms in HSP-ATL1(SPG3A) and uncover genotype–phenotype correlations	36
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study	36
Large registry-based analysis of genetic predisposition to tuberculosis identifies genetic risk factors at HLA	34
Supt16haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells	33
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk	33
Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retina	33
Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina	32
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma	32
AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice	31
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis	31
Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in HD knock-in animal models	30
Toward a better understanding of PHTS heterogeneity: commentary on ‘Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity’	30
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn’s disease and ulcerative colitis	29
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression	28
Mitochondrial protein synthesis quality control	27

Decoding the Enigma: Translation Termination in Human Mitochondria