ArticleProceedings of the National Academy of Sciences of the United States of America2023
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Brachydactyly Type A1 Caused by anReports (MDPI) · 2026Article
- A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†.Biology of reproduction · 2026Article
- Mapping whole-organism genetic comorbidities across model Species using unified ontologies.Genetics · 2026Article
- Normal Fertility of Dnajb13 (exon2 KO)/(exon2 c.106T > C Mut) Compound Heterozygous Mutant Male Mice.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- A primordial germ cell-like-cell platform enables CRISPRi screen for epigenetic fertility modifiers.EMBO reports · 2025Article
- MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.Cell death discovery · 2025Article
- Contemporary Diagnostic Work-Up for Male Infertility: Emphasizing Comprehensive Baseline Assessment.The world journal of men's health · 2025Review
- The use of deidentified organ donor testes for research.Andrology · 2025Review
- Maternal genetic variants in kinesin motor domains prematurely increase egg aneuploidy.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis.Nutrients · 2024Article
- A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.PloS one · 2024Article
- Female infertility from oocyte maturation arrest: assembling the genetic puzzle.EMBO molecular medicine · 2023Article
- Microfluidic organ-on-a-chip for modeling coronary artery disease: Recent applications, limitations and potential.Journal of tissue engineeringReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
Infertility is a heterogeneous condition, with genetic causes thought to underlie a substantial fraction of cases. Genome sequencing is becoming increasingly important for genetic diagnosis of diseases including idiopathic infertility; however, most rare or minor alleles identified in patients are variants of uncertain significance (VUS). Interpreting the functional impacts of VUS is challenging but profoundly important for clinical management and genetic counseling. To determine the consequences of these variants in key fertility genes, we functionally evaluated 11 missense variants in the genes
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.