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 2021-05-01 to 2025-05-01.)

Article	Citations
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	381
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	93
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	70
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	52
Human Mutation special issue on innovations in genomic diagnostics	52
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	50
Issue Information	47
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	46
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	42
Dissection of contiguous gene effects for deletions around ERF on chromosome 19	41
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	40
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	38
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	37
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	34
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	33
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	33
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	32
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	30
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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	28
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability	26
A family study implicates GBE1 in the etiology of autism spectrum disorder	25
A domain damage index to prioritizing the pathogenicity of missense variants	25
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	25
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit	23

Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	23
Variant interpretation using population databases: Lessons from gnomAD	23
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	22
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	21
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	21
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	21
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	21
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	20
MicroRNA binding site variation is enriched in psychiatric disorders	20
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	20
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	20
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	20
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	19
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	19
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	19
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	19
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	19
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss	19
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	18
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	17
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	17
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes	16
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	16
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	16
Issue Information	16
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	15
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	15
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	15
Variant interpretation: UCSC Genome Browser Recommended Track Sets	15
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	15
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	15
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	15
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	15
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	15
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
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	14
The enhancer rare germline variation rs548071605 contributes to lung cancer development	14
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	13
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	13
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	13
Issue Information	13
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	13
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	13
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	13
Machine learning models for accurate prioritization of variants of uncertain significance	13
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	13
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	12

Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	12
Corrigendum	12
Issue Information	12
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	12
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	12
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel	12
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	12
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	12
Genome sequencing in congenital cataracts improves diagnostic yield	12
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	12
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	11
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	11
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	11
Issue Information	10
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	10
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	10
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	10
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	10
Issue Information	10
Issue Information	10
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	10
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency	10
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants	10