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

Article	Citations
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases)	112
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	78
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	40
Partially connected neural networks for complex trait prediction: application to human height	38
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	37
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	37
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA	34
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	33
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China	32
The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices	32
Blending borders: reconstructing the genetic history of the Sindhi population	30
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	30
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	30
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	29
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	28
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	27
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	27
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	22
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	22
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	22
The obesity-related mutation gene on nonalcoholic fatty liver disease	21
Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur	21
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	21
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	21
Unraveling phenotypic variance in metabolic syndrome through multi-omics	20

MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics	20
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	20
Human organoids for rapid validation of gene variants linked to cochlear malformations	19
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	18
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke	18
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review	18
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	18
Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases	18
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome	17
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells	16
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding	16
Genomics and inclusion of Indigenous peoples in high income countries	16
Identification of DNA methylation based prognostic subtype and signature in epithelial ovarian cancer	16
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	16
lncRNA CDKN2B-AS1 regulates collagen expression	16
Comprehensive analysis of microsatellite polymorphisms in human populations	15
Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study	15
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation	15
Cross-ancestry genetic architecture and prediction for cholesterol traits	15
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci	15
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities	14
Congenital enteropathy caused by ezrin deficiency	14
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation	14
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders	14
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	14
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	13
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease	13
Transcriptomic reprogramming for neuronal age reversal	13
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2	13
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing	13
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges	13
Toward a comprehensive catalog of regulatory elements	13
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature	13
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential	13
Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos	12
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients	12
Correction: A genomic tale of inbreeding in western Mediterranean human populations	12
Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges	12
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes	12
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants	12
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	11
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	11
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	11
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification	11
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	11
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	11
Polygenic scores and physical fitness prediction: a systematic review	11
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	11
The genetics of non-monogenic IBD	11
A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling	11

Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration	10
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach	10
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects	10
Advances in long-read single-cell transcriptomics	10
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	10
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea	10
ScSpTITH: a rank-correlation framework for robust quantification of multi-dimensional tumor heterogeneity	10
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	10
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	10
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects	10
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance	9
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans	9
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	9
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders	9
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges	9
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency	9
AI in variant analysis: fast track to genetic diagnoses	9
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids	9
DNA methylation signatures from peripheral blood revealed epigenetic alterations in Fanconi anemia	9
The genetics of monogenic intestinal epithelial disorders	9
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate	9
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	9
Unfolding the genetic map of monogenic liver diseases in Egypt	9