OOIR: Observatory of International Research

Papers

(The H4-Index of Human Mutation is 25. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	483
Human Mutation special issue on innovations in genomic diagnostics	122
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	65
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	64
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	61
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	59
Issue Information	59
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	51
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	51
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	51
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	47
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	41
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	37
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	37
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	34
	33
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	31
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	31
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	28
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	27
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	27
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	27
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	26
Variant interpretation using population databases: Lessons from gnomAD	26
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	25

Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer