OOIR: Observatory of International Research

Papers

(The TQCC of Human Genetics is 10. 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 2020-04-01 to 2024-04-01.)

Article	Citations
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting	346
The relationship between the gut microbiome and host gene expression: a review	80
Causal influences of neuroticism on mental health and cardiovascular disease	65
Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?	58
Embeddings from protein language models predict conservation and variant effects	52
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	48
Disease gene discovery in male infertility: past, present and future	47
The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?	47
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance	43
Collagen transport and related pathways in Osteogenesis Imperfecta	42
Towards systematic nomenclature for cell-free DNA	39
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis	38
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants	37
Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality	35
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease	35
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	35
SZDB2.0: an updated comprehensive resource for schizophrenia research	34
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification	33
The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction	32
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon	32
Combi-CRISPR: combination of NHEJ and HDR provides efficient and precise plasmid-based knock-ins in mice and rats	31
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19	30
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia	30
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	30
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	29

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	29
Evolutionary and population (epi)genetics of immunity to infection	28
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	28
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse	28
Low-pass genome sequencing: a validated method in clinical cytogenetics	27
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss	26
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease	26
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients	25
Genome interpretation using in silico predictors of variant impact	25
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	25
An effector index to predict target genes at GWAS loci	24
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect	24
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis	23
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix	23
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player	22
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	22
Genetic etiology of non-syndromic hearing loss in Europe	22
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland	22
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss	22
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia	22
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	21
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome	20
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis	20
Genetic evidence suggests a sense of family, parity and conquest in the Xiongnu Iron Age nomads of Mongolia	20
Interpretable machine learning for genomics	20
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse	20
Rare variant association testing in the non-coding genome	20
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects	19
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T	19
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	18
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	18
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2	18
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease	17
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	17
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus	17
Resolving misalignment interference for NGS-based clinical diagnostics	17
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	16
Genetic innovations and our understanding of stillbirth	16
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients	16
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health	16
The shared genetic architecture of schizophrenia, bipolar disorder and lifespan	16
ASTL is mutated in female infertility	15
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis	15
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia	15
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development	15
The population genetics characteristics of a 90 locus panel of microhaplotypes	15
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome	15
A Southeast Asian origin for present-day non-African human Y chromosomes	15
Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease	15
Differential fates of introns in gene expression due to global alternative splicing	15

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum	15
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans	14
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy	14
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects	14
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation	13
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population	13
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss	13
Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms	13
PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer	13
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss	13
Identifying adaptive alleles in the human genome: from selection mapping to functional validation	13
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy	13
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects	13
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions	13
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy	13
Deciphering the complexity of simple chromosomal insertions by genome sequencing	12
Genome sequencing in families with congenital limb malformations	12
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders	12
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	12
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications	12
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings	12
The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing	12
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update	12
Ethical considerations in gene selection for reproductive carrier screening	12
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations	12
Alternative splicing in normal and pathological human placentas is correlated to genetic variants	12
Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG)	12
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	12
Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity	11
Next generation sequencing in neonatology: what does it mean for the next generation?	11
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation	11
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations	11
Identifying disease-causing mutations in genomes of single patients by computational approaches	11
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity	11
Through 40,000 years of human presence in Southern Europe: the Italian case study	11
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome	11
The genetics of monogenic intestinal epithelial disorders	11
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population	11
The potential application of organoids in breast cancer research and treatment	11
Central auditory deficits associated with genetic forms of peripheral deafness	11
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes	10
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids	10
Comprehensive functional annotation of susceptibility variants associated with asthma	10
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	10
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation	10
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery	10
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	10
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update	10
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype	10
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth	10
Human genetic basis of fulminant viral hepatitis	10
Challenges in translational machine learning	10