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 2021-08-01 to 2025-08-01.)

Article	Citations
Human Mutation special issue on innovations in genomic diagnostics	423
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	108
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	57
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	55
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	55
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	54
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	53
Issue Information	46
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	45
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	45
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	45
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	39
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	38
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	34
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	34
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	34
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	31
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A domain damage index to prioritizing the pathogenicity of missense variants	28
A family study implicates GBE1 in the etiology of autism spectrum disorder	27
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	26
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	26
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit	26
Variant interpretation using population databases: Lessons from gnomAD	25
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	25

A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	25
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	25
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	24
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	23
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	23
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	22
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	21
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	20
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	19
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss	19
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	19
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	19
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	19
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	18
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	18
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	18
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	17
MicroRNA binding site variation is enriched in psychiatric disorders	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
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	17
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	16
Issue Information	16
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	15
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	15
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	15
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	15
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	15
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	15
Management of Paediatric Cancers Associated With Bloom Syndrome	15
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	15
Variant interpretation: UCSC Genome Browser Recommended Track Sets	14
The enhancer rare germline variation rs548071605 contributes to lung cancer development	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
Back Cover, Volume 43, Issue 7	14
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	14
Machine learning models for accurate prioritization of variants of uncertain significance	14
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	14
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	13
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	13
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	13
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	13
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	13
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	13
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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	12
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	12
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	12
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	11

Issue Information	11
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	11
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	11
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	11
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	11
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	11
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	10
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel	10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	10
Issue Information	10
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	10
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	10
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	10
Issue Information	10