OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Human Genetics is 19. 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 2021-04-01 to 2025-04-01.)

Article	Citations
Novel variants causing megalencephalic leukodystrophy in Sudanese families	94
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient	83
Pathogenic variants in SHROOM3 associated with hemifacial microsomia	82
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	31
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	31
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	31
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	28
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	27
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	27
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay	26
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	26
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	25
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	25
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	24
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study	22
Is legislation to prevent genetic discrimination necessary in Japan? An overview of the current policies and public attitudes	22
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	22
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes	21
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	20
Modeling colorectal cancer evolution	19