OOIR: Observatory of International Research

Papers

(The TQCC of Human Genetics is 8. 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 2021-02-01 to 2025-02-01.)

Article	Citations
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins	74
The human microbiome and genetic disease: towards the integration of metagenomic and multi-omics data	67
Editorial to special issue on Ethics in Genetics	58
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	52
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family	51
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities	51
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	41
Challenges in translational machine learning	37
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma	36
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	36
ZNF668 deficiency causes a recognizable disorder of DNA damage repair	36
Automatized detection of uniparental disomies in a large cohort	35
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm	33
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	33
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	32
Migraine, chronic kidney disease and kidney function: observational and genetic analyses	31
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	29
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	29
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	28
Regulation potential of transcribed simple repeated sequences in developing neurons	28
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	27
Long non-coding RNAs: recent insights, remaining challenges, and exciting new directions	27
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	26
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	26
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	25

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia	25
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy	25
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	23
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth	22
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	22
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase	21
Computational interpretation of human genetic variation	21
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	20
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias	20
H2A monoubiquitination: insights from human genetics and animal models	20
A founder DBR1 variant causes a lethal form of congenital ichthyosis	19
Interpretable machine learning for genomics	19
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss	19
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	18
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population	17
Through 40,000 years of human presence in Southern Europe: the Italian case study	17
PMEL is mutated in oculocutaneous albinism	17
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	16
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	16
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	16
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	16
DNA methylation signatures for chromatinopathies: current challenges and future applications	15
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation	15
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation	15
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data	15
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study	15
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	15
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology	15
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes	14
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	14
SNP characteristics and validation success in genome wide association studies	14
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss	14
The noncoding genome and hearing loss	14
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid	14
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases	14
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview	13
Fine mapping of candidate effector genes for heart rate	13
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis	13
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	13
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	13
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation	13
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	13
Genetic etiology of hearing loss in Iran	12
The genetics of non-monogenic IBD	12
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	12
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases	12
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases	12
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update	12
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	12
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	12

Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells	12
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	12
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant	11
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	11
Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	11
Correction to: Genetic etiology of non-syndromic hearing loss in Latin America	11
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	11
Genetic etiology of non-syndromic hearing loss in Latin America	11
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features	11
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage	10
Reply to Letter about whole genome sequencing in newborns	10
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing	10
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0	10
What is so complicated about prenatal testing for Down syndrome? A personal view	10
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	10
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	10
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	10
Predicting the impact of rare variants on RNA splicing in CAGI6	10
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse	10
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	10
Dissecting the genetic history of the Roman Catholic populations of West Coast India	9
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome	9
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	9
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1	9
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures	9
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria	9
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	9
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia	9
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future	9
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer	9
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	9
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	9
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	9
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	9
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder	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
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene	9
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts	9
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease	8
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	8
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)	8
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update	8
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia	8
Genetic etiology of hearing loss in Russia	8
Monogenic causes of pigmentary mosaicism	8
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects	8
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	8
N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer	8
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans	8
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency	8
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping	8
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	8
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	8