OOIR: Observatory of International Research

Papers

(The TQCC of Human Genetics is 9. 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 2021-09-01 to 2025-09-01.)

Article	Citations
Editorial to special issue on Ethics in Genetics	104
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	80
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	79
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	75
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	59
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease	54
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	53
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	53
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	52
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	51
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	49
Interpretable machine learning for genomics	48
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	44
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants	38
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	38
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	36
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	33
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	33
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	30
The obesity-related mutation gene on nonalcoholic fatty liver disease	29
Monogenic causes of pigmentary mosaicism	29
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	28
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	27
Human organoids for rapid validation of gene variants linked to cochlear malformations	26
Hearing loss in Africa: current genetic profile	26

Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	26
Unraveling phenotypic variance in metabolic syndrome through multi-omics	25
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	24
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke	24
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review	24
The hearing-impaired patient: what the future holds	24
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibro	23
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome	22
Cross-ancestry genetic architecture and prediction for cholesterol traits	22
The promise of automated machine learning for the genetic analysis of complex traits	22
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation	21
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci	21
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells	21
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities	21
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding	21
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation	20
lncRNA CDKN2B-AS1 regulates collagen expression	20
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	20
Comprehensive analysis of microsatellite polymorphisms in human populations	20
Genomics and inclusion of Indigenous peoples in high income countries	19
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	18
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches	18
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine	18
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	18
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing	17
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders	16
Congenital enteropathy caused by ezrin deficiency	16
Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes	15
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss	15
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations	15
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts	15
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	15
Transcriptomic reprogramming for neuronal age reversal	15
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature	15
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss	15
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks	14
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients	14
Toward a comprehensive catalog of regulatory elements	14
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges	14
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants	14
BMP3 is a novel locus involved in the causality of ocular coloboma	13
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2	13
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	13
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss	13
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	13
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential	13
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation	13
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene	13
The genetics of non-monogenic IBD	12
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	12

Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	12
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	12
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration	12
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	12
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	12
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	12
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids	11
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions	11
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	11
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea	11
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	11
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency	11
Advances in long-read single-cell transcriptomics	11
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	11
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	11
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges	11
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss	11
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	11
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects	11
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	11
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	10
Predicting ExWAS findings from GWAS data: a shorter path to causal genes	10
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate	10
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance	10
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders	10
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans	10
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	10
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia	10
The genetics of monogenic intestinal epithelial disorders	10
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration	9
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner	9
Chromatinopathies – from discovery to clinical diagnosis in the real world	9
Great expectations: patients’ preferences for clinically significant results from genomic sequencing	9
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy	9
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility	9
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders	9
Embeddings from protein language models predict conservation and variant effects	9
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study	9
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants	9
Structure-informed protein language models are robust predictors for variant effects	9
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context	9
Cellular senescence and neurodegeneration	9
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility	9