OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Human Genetics is 6. 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 2020-05-01 to 2024-05-01.)

Article	Citations
SARS-CoV-2 genomic variations associated with mortality rate of COVID-19	284
Bioinformatic prediction of potential T cell epitopes for SARS-Cov-2	116
A review of UMAP in population genetics	78
Unique roles of rare variants in the genetics of complex diseases in humans	78
Cancer-associated miRNAs and their therapeutic potential	53
Molecular genetics of Parkinson’s disease: Contributions and global trends	51
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	41
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease	40
Interpretation of omics data analyses	40
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype	34
Identification of epigenetic interactions between microRNA and DNA methylation associated with polycystic ovarian syndrome	33
Practical guide for managing large-scale human genome data in research	33
Deep neural network improves the estimation of polygenic risk scores for breast cancer	33
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia	32
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease	32
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint	31
Multi-omics study for interpretation of genome-wide association study	30
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification	29
RNA sequencing-based microRNA expression signature in esophageal squamous cell carcinoma: oncogenic targets by antitumor miR-143-5p and miR-143-3p regulation	29
Single-cell genomics to understand disease pathogenesis	28
Association of an IGHV3-66 gene variant with Kawasaki disease	26
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	25
Papuan mitochondrial genomes and the settlement of Sahul	24
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	23

Personalized medicine for cardiovascular diseases	23
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	23
Aberrant expression of a novel circular RNA in pancreatic cancer	21
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	21
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin	21
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies	21
The genetic architecture of schizophrenia: review of large-scale genetic studies	21
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	20
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China	19
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	19
Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals	19
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis	18
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms	17
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	17
Genomic landscape of hepatocarcinogenesis	17
Artificial intelligence powered statistical genetics in biobanks	17
Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population	16
Whole exome sequencing of fetal structural anomalies detected by ultrasonography	16
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy	15
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	15
Genetics of Alzheimer’s disease: an East Asian perspective	15
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy	15
Strong association between the 12q24 locus and sweet taste preference in the Japanese population revealed by genome-wide meta-analysis	15
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan	15
Clinical implementation and current advancement of blood liquid biopsy in cancer	15
Clinical genetics of Charcot–Marie–Tooth disease	15
Modeling colorectal cancer evolution	15
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	14
Clinical and molecular spectra of BRAF-associated RASopathy	14
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia	14
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy	14
Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes	14
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction	13
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	13
Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis?	12
Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public	12
Phylogenetic analysis of the Y-chromosome haplogroup C2b-F1067, a dominant paternal lineage in Eastern Eurasia	12
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	12
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia	12
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	12
GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesity	12
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population	12
Genetics of autism spectrum disorders and future direction	11
Willingness to participate in genome testing: a survey of public attitudes from Qatar	11
Immunogenomics in personalized cancer treatments	11
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome	11
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes	11
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	10
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease	10
Genome-wide association study identifies zonisamide responsive gene in Parkinson’s disease patients	10

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients	10
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A	10
A review of major causative genes in congenital myopathies	10
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes	10
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48	9
Bardet–Biedl syndrome and related disorders in Japan	9
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	9
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders	9
Genetic background in late-onset sensorineural hearing loss patients	9
Association of ABCG1 gene methylation and its dynamic change status with incident type 2 diabetes mellitus: the Rural Chinese Cohort Study	9
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature	9
Functional genomics for breast cancer drug target discovery	9
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data	9
An NGS-based genotyping in LQTS; minor genes are no longer minor	9
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia	8
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	8
Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations	8
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder	8
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	8
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	8
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome	8
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people	8
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	8
Two novel TCTN2 mutations cause Meckel–Gruber syndrome	7
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)	7
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1	7
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant	7
Potential causal association of a prolonged PR interval and clinical recurrence of atrial fibrillation after catheter ablation: a Mendelian randomization analysis	7
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins	7
Novel variants causing megalencephalic leukodystrophy in Sudanese families	7
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation	7
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations	7
Aggressive periodontitis and NOD2 variants	7
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders	7
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels	7
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	7
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project	7
Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation	7
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	7
Genetics of autosomal mosaic chromosomal alteration (mCA)	7
Phenotypic implications of pathogenic variant types in Pompe disease	6
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex	6
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time	6
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study	6
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing	6
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype	6
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	6
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	6
Further delineation of KIF21B-related neurodevelopmental disorders	6
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population	6
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings	6
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients	6
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype	6
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience	6
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	6
A genotype-first analysis in a cohort of Mullerian anomaly	6
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	6
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	6
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	6
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis	6
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene	6