OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Human Genetics is 7. 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
SARS-CoV-2 genomic variations associated with mortality rate of COVID-19	282
Bioinformatic prediction of potential T cell epitopes for SARS-Cov-2	114
Unique roles of rare variants in the genetics of complex diseases in humans	73
A review of UMAP in population genetics	73
Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration	57
Cancer-associated miRNAs and their therapeutic potential	50
Molecular genetics of Parkinson’s disease: Contributions and global trends	43
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	38
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	38
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype	34
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease	32
Identification of epigenetic interactions between microRNA and DNA methylation associated with polycystic ovarian syndrome	31
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia	30
Deep neural network improves the estimation of polygenic risk scores for breast cancer	30
Practical guide for managing large-scale human genome data in research	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
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification	29
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint	29
Multi-omics study for interpretation of genome-wide association study	28
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	23

Personalized medicine for cardiovascular diseases	23
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	22
Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients	22
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	21
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms	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
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4	20
Aberrant expression of a novel circular RNA in pancreatic cancer	20
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	19
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China	19
The genetic architecture of schizophrenia: review of large-scale genetic studies	19
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	19
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	18
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis	18
Genomic landscape of hepatocarcinogenesis	17
Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals	17
Artificial intelligence powered statistical genetics in biobanks	16
Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population	16
Newborn screening of mucopolysaccharidoses: past, present, and future	16
Whole exome sequencing of fetal structural anomalies detected by ultrasonography	16
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms	15
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	15
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan	15
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy	15
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy	15
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	15
Clinical implementation and current advancement of blood liquid biopsy in cancer	15
Clinical genetics of Charcot–Marie–Tooth disease	15
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy	14
Clinical and molecular spectra of BRAF-associated RASopathy	14
Modeling colorectal cancer evolution	14
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	14
Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes	14
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia	13
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction	13
Strong association between the 12q24 locus and sweet taste preference in the Japanese population revealed by genome-wide meta-analysis	13
Genetics of Alzheimer’s disease: an East Asian perspective	13
Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public	12
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	12
Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis?	12
GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesity	12
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia	12
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	12
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population	12
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	12
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability	12
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes	11
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome	11
Phylogenetic analysis of the Y-chromosome haplogroup C2b-F1067, a dominant paternal lineage in Eastern Eurasia	11

Willingness to participate in genome testing: a survey of public attitudes from Qatar	11
A review of major causative genes in congenital myopathies	10
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia	10
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	10
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes	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
Genetics of autism spectrum disorders and future direction	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 functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease	9
Genetic background in late-onset sensorineural hearing loss patients	9
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	9
Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels	9
Functional genomics for breast cancer drug target discovery	9
Immunogenomics in personalized cancer treatments	9
Association of ABCG1 gene methylation and its dynamic change status with incident type 2 diabetes mellitus: the Rural Chinese Cohort Study	9
An NGS-based genotyping in LQTS; minor genes are no longer minor	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
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48	9
Bardet–Biedl syndrome and related disorders in Japan	9
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data	9
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago	9
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	8
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing	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
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	8
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia	8
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome	8
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders	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
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)	7
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant	7
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders	7
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins	7
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people	7
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations	7
Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation	7
Genetics of autosomal mosaic chromosomal alteration (mCA)	7
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels	7
Novel variants causing megalencephalic leukodystrophy in Sudanese families	7
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project	7
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1	7
Aggressive periodontitis and NOD2 variants	7
Y-chromosome evidence confirmed the Kerei-Abakh origin of Aksay Kazakhs	7
Two novel TCTN2 mutations cause Meckel–Gruber syndrome	7
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	7