OOIR: Observatory of International Research

Papers

(The TQCC of Human Mutation is 9. 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
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	21
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and Prognosis	21
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	21

Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	21
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	21
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	19
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	19
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	18
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	18
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	17
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	17
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	17
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	17
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	17
MicroRNA binding site variation is enriched in psychiatric disorders	17
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	17
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	17
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	17
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	17
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	16
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways	16
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	15
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	15
Management of Paediatric Cancers Associated With Bloom Syndrome	15
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	15
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	15
Issue Information	15
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	15
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	14
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNA^Asp Mutation	14
Variant interpretation: UCSC Genome Browser Recommended Track Sets	13
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	13
Back Cover, Volume 43, Issue 7	13
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	13
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	12
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	12
Machine learning models for accurate prioritization of variants of uncertain significance	12
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	12
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	12
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	12
	11
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	11
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	11
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	10
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	10
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	10
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	10
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	10
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	10
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	10
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	10
Issue Information	9
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	9

Issue Information	9
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	9
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	9
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	9
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	9
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	9
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	9
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan‐Cancer Analysis and Gastric Cancer Validation	9