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 2021-02-01 to 2025-02-01.)

Article	Citations
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	296
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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	65
Issue Information	44
Human Mutation special issue on innovations in genomic diagnostics	41
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Issue Information	37
In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	37
Issue Information	35
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Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	29
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Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	28
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	27
Better and faster is cheaper	26
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	26
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	25
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases	25
Myopathy can be a key phenotype of membrin (GOSR2) deficiency	23
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	23
Clinical exome sequencing—Mistakes and caveats	22
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants	22
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	22
A global analysis of the reconstitution of PTEN function by translational readthrough ofPTENpathogenic premature termination codons	22

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	21
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	20
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis	20
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	20
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening	19
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	19
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2	18
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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	17
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	17
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	17
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	16
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	16
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants re	16
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes	16
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	15
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	15
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	15
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	15
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	15
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	14
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	14
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	14
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy	14
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	14
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	14
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	14
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	14
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	14
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	13
The genomic landscape of pediatric rheumatology disorders in the Middle East	13
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	13
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome	13
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients	13
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	13
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	13
DNAH14 variants are associated with neurodevelopmental disorders	12
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study	12
The enhancer rare germline variation rs548071605 contributes to lung cancer development	12
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease	12
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	12
Issue Information	12
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	12
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing	12
Back Cover, Volume 43, Issue 7	12
Issue Information	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
Issue Information	11

Issue Information	11
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	11
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	11
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	11
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	11
Front Cover, Volume 43, Issue 9	11
Fumarate Hydratase ( FH ) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patie	11
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	11
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease	11
Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal	11
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Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy	11
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads	11
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	10
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	10
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing	10
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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	10
Genome Sequencing of Idiopathic Speech Delay	10
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive	10
The transmission of human mitochondrial DNA in four‐generation pedigrees	10
Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features	10
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	9
Variants of human CLDN9 cause mild to profound hearing loss	9
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	9
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	9
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones	9
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort	9
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome	9
Variant interpretation: UCSC Genome Browser Recommended Track Sets	9
Mutation update for the ACTN2 gene	9
Machine learning models for accurate prioritization of variants of uncertain significance	9
Dissection of contiguous gene effects for deletions around ERF on chromosome 19	9
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	9
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B	9