OOIR: Observatory of International Research

Papers

(The H4-Index of Human Molecular Genetics is 29. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence	82
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes	60
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	49
Separating the genetics of childhood and adult obesity: a validation study of genetic scores for body mass index in adolescence and adulthood in the HUNT Study	49
Detailed stratified GWAS analysis for severe COVID-19 in four European populations	48
Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	48
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk	44
Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease	42
Novel genes and sex differences in COVID-19 severity	40
Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer’s disease	40
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	38
Evolutionary history of sickle-cell mutation: implications for global genetic medicine	37
Kidney disease and APOL1	36
Genome-wide association study of circulating interleukin 6 levels identifies novel loci	36
Selective serotonin reuptake inhibitor citalopram ameliorates cognitive decline and protects against amyloid beta-induced mitochondrial dynamics, biogenesis, autophagy, mitophagy and synaptic toxiciti	35
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations	34
Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells	34
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse	33
Higher adiposity and mental health: causal inference using Mendelian randomization	33
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease	33
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia	32
Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer’s disease	32
Integrative analyses of scRNA-seq and scATAC-seq reveal CXCL14 as a key regulator of lymph node metastasis in breast cancer	32
Dysregulated mitochondrial and cytosolic tRNA m1A methylation in Alzheimer’s disease	32
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration	32

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	31
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases: 2005–2022	31
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice	30
Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19	30
Advances in mouse genetics for the study of human disease	29
APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis	29