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 2021-09-01 to 2025-09-01.)

Article	Citations
Human Mutation special issue on innovations in genomic diagnostics	443
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	111
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	60
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	57
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	55
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	55
Issue Information	53
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	48
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	47
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	45
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	42
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	38
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	35
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	34
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	34
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	31
	29
A family study implicates GBE1 in the etiology of autism spectrum disorder	28
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	27
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	27
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	26
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	26
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	26
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	26
Variant interpretation using population databases: Lessons from gnomAD	25

A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations