OOIR: Observatory of International Research

Papers

(The H4-Index of Human Mutation is 23. 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 2021-06-01 to 2025-06-01.)

Article	Citations
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	399
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	97
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	53
Human Mutation special issue on innovations in genomic diagnostics	53
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	52
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	47
Issue Information	47
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	43
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	42
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	41
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	40
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	34
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	34
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	33
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	32
	30
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	28
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	28
A domain damage index to prioritizing the pathogenicity of missense variants	26
A family study implicates GBE1 in the etiology of autism spectrum disorder	25
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	25
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	24
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit	23