OOIR: Observatory of International Research

Papers

(The TQCC of Human Mutation is 10. 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

PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	25
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	22
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	21
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	21
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	20
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	20
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	20
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	20
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	19
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	19
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	18
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	18
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	17
MicroRNA binding site variation is enriched in psychiatric disorders	17
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	17
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	17
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	17
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	17
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	17
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	17
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	16
Management of Paediatric Cancers Associated With Bloom Syndrome	16
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	16
Issue Information	16
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNA^Asp Mutation	16
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	15
Back Cover, Volume 43, Issue 7	15
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	15
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	15
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	15
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	15
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	15
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	15
The enhancer rare germline variation rs548071605 contributes to lung cancer development	14
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	14
	14
Machine learning models for accurate prioritization of variants of uncertain significance	14
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	14
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	14
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	13
	13
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	13
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	13
Variant interpretation: UCSC Genome Browser Recommended Track Sets	13
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	13
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	13
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	12
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	12
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	12
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	11

Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	11
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	11
Issue Information	11
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	11
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	11
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	11
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	11
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	11
Issue Information	10
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	10
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	10