OOIR: Observatory of International Research

Papers

(The H4-Index of Human Molecular Genetics is 30. 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 2020-03-01 to 2024-03-01.)

Article	Citations
Reviewing the genetics of heterogeneity in depression: operationalizations, manifestations and etiologies	84
Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions	75
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1	66
Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence	60
Single cell transcriptome profiling of the human alcohol-dependent brain	58
Gene therapy for Alzheimer’s disease targeting CD33 reduces amyloid beta accumulation and neuroinflammation	54
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes	46
Integrative genomics approach identifies conserved transcriptomic networks in Alzheimer’s disease	45
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out	43
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses	43
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	42
The emerging field of polygenic risk scores and perspective for use in clinical care	42
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes	41
Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease	40
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations	40
Detailed stratified GWAS analysis for severe COVID-19 in four European populations	39
Impaired mitochondrial–endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson’s disease	37
The phenomenal epigenome in neurodevelopmental disorders	37
Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease	36
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome edit	36
Ngly1 −/− rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems	36
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk	35
Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons	35
Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice	35
Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer’s disease	34

Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro	34
Effect of rare coding variants in the CFI gene on Factor I expression levels	34
A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank	31
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium	31
Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS	31
Novel genes and sex differences in COVID-19 severity	30
Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients	30
Genome-wide association study of circulating interleukin 6 levels identifies novel loci	30