OOIR: Observatory of International Research

Papers

(The H4-Index of Human Mutation is 23. 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
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	362
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	92
	65
Issue Information	50
	49
Issue Information	49
Issue Information	45
In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	45
	41
	40
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	37
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	35
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	34
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	33
Human Mutation special issue on innovations in genomic diagnostics	32
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	31
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	30
Myopathy can be a key phenotype of membrin (GOSR2) deficiency	29
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	28
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	28
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	28
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening	24
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	23
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	23
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	23

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	23
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	23
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants	23