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 2020-10-01 to 2024-10-01.)

Article	Citations
A review of UMAP in population genetics	89
Molecular genetics of Parkinson’s disease: Contributions and global trends	66
Cancer-associated miRNAs and their therapeutic potential	65
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	55
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	45
Deep neural network improves the estimation of polygenic risk scores for breast cancer	39
Practical guide for managing large-scale human genome data in research	38
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
Association of an IGHV3-66 gene variant with Kawasaki disease	29
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	28
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	27
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	25
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	23
The genetic architecture of schizophrenia: review of large-scale genetic studies	23
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	22
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	21
Genetics of autism spectrum disorders and future direction	20
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	20
Genomic landscape of hepatocarcinogenesis	20
Genetics of Alzheimer’s disease: an East Asian perspective	20
Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals	20
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms	19
Clinical implementation and current advancement of blood liquid biopsy in cancer	19
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis	19
Clinical genetics of Charcot–Marie–Tooth disease	18

Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes	18
Modeling colorectal cancer evolution	17
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	17
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	17
Whole exome sequencing of fetal structural anomalies detected by ultrasonography	16
Clinical and molecular spectra of BRAF-associated RASopathy	15
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy	15
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy	15
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	14
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	14
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia	13
A review of major causative genes in congenital myopathies	13
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	12
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients	11
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	11
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing	11
Immunogenomics in personalized cancer treatments	11
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes	10
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease	10
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders	10
Functional genomics for breast cancer drug target discovery	10
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	10
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48	10
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome	9
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	9
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	9
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	9
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	9
Genetic background in late-onset sensorineural hearing loss patients	9
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people	9
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	9
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder	9
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data	9
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	9
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	9
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant	8
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	8
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder	8
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	8
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study	8
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders	8
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	8
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	8
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	8
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia	8
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	8
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies	8
BCS1L mutations produce Fanconi syndrome with developmental disability	8
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	7
Novel variants causing megalencephalic leukodystrophy in Sudanese families	7

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1	7
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project	7
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	7
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	7
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	7
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	7
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations	7
Advances in AI and machine learning for predictive medicine	7
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	7
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins	7
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	7
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency	7
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation	7
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype	7
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience	7
Genetics of autosomal mosaic chromosomal alteration (mCA)	7
A genotype-first analysis in a cohort of Mullerian anomaly	6
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	6
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review	6
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	6
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis	6
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders	6
Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data	6
ALOX12 mutation in a family with dominantly inherited bleeding diathesis	6
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	6
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	6
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	6
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	6
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients	6
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	6
Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection	6
Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India	6
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	6
Further delineation of KIF21B-related neurodevelopmental disorders	6
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	6
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	6
Spinocerebellar ataxia type 31 (SCA31)	6
Genetics of brain arteriovenous malformations and cerebral cavernous malformations	6
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene	6
Phenotypic implications of pathogenic variant types in Pompe disease	6
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability	6