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 2021-04-01 to 2025-04-01.)

Article	Citations
Editorial to special issue on Ethics in Genetics	90
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	84
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge	68
H2A monoubiquitination: insights from human genetics and animal models	67
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	62
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology	59
Regulation potential of transcribed simple repeated sequences in developing neurons	47
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases	46
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases	46
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	45
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	45
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss	44
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	43
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family	39
Correction to: Genetic etiology of non-syndromic hearing loss in Latin America	37
Through 40,000 years of human presence in Southern Europe: the Italian case study	37
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation	37
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	35
The noncoding genome and hearing loss	34
A founder DBR1 variant causes a lethal form of congenital ichthyosis	33
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	32
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	32
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	30
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	30
ZNF668 deficiency causes a recognizable disorder of DNA damage repair	30

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	27
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase	26
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations	26
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma	26
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins	25
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	25
Genetic etiology of hearing loss in Iran	25
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation	24
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features	24
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia	22
Migraine, chronic kidney disease and kidney function: observational and genetic analyses	21
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population	21
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm	21
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	21
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	21
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	21
Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	20
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	20
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities	20
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	19
Genetic etiology of non-syndromic hearing loss in Latin America	19
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	18
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation	18
Long non-coding RNAs: recent insights, remaining challenges, and exciting new directions	18
Computational interpretation of human genetic variation	18
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	18
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data	17
PMEL is mutated in oculocutaneous albinism	17
DNA methylation signatures for chromatinopathies: current challenges and future applications	17
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	17
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	17
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis	16
Fine mapping of candidate effector genes for heart rate	16
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	16
Automatized detection of uniparental disomies in a large cohort	16
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	15
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant	15
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes	15
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	15
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss	15
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases	15
Challenges in translational machine learning	15
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update	15
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias	14
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells	14
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study	14
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	14
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy	14
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview	14
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid	14

Critical assessment of missense variant effect predictors on disease-relevant variant data	13
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	13
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	13
Interpretable machine learning for genomics	13
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases	13
The genetics of non-monogenic IBD	13
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	13
SNP characteristics and validation success in genome wide association studies	13
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	12
Reply to Letter about whole genome sequencing in newborns	12
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	12
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microa	12
Geographic variation in the polygenic score of height in Japan	12
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future	12
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges	12
T1R2/T1R3 polymorphism affects sweet and fat perception: Correlation between SNP and BMI in the context of obesity development	12
Molecular genetic landscape of hereditary hearing loss in Pakistan	12
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	11
The potential application of organoids in breast cancer research and treatment	11
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria	11
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	11
The fetus in the age of the genome	11
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	11
Genetic etiology of hearing loss in Russia	11
Monogenic causes of pigmentary mosaicism	11
The exocyst complex in neurological disorders	11
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	10
46,XY disorders of sex development: the use of NGS for prevalent variants	10
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss	10
What is so complicated about prenatal testing for Down syndrome? A personal view	10
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	10
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration	10
Genetics of otosclerosis: finally catching up with other complex traits?	10
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures	10
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	9
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping	9
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study	9
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia	9
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects	9
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene	9
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	9
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome	9
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies	9
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	9
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease	9
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders	9
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	9
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	9
The obesity-related mutation gene on nonalcoholic fatty liver disease	9
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder	9