OOIR: Observatory of International Research

Papers

(The H4-Index of Human Mutation is 22. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	128
Human Mutation special issue on innovations in genomic diagnostics	71
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	66
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	62
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	61
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	58
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	54
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	50
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	42
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	39
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	31
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	31
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	29
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	29
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	28
	28
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	26
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	26
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	26
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	25
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	22
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	22