ArticleHuman mutation2024
Biallelic Recessive Mutations in
Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- Automated Microvolume Secretome Proteomics Enables Sensitive and Deep Profiling and Noninvasive Single-Embryo Analysis.Journal of proteome research · 2026Article
- Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos.Human genetics · 2026Article
- Novel biallelic MEI1 variants cause female infertility characterized by multiple pronuclei formation and aberrant embryonic development.Journal of ovarian research · 2025Article
- Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Journal of assisted reproduction and genetics · 2025Article
- Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation.Frontiers in medicine · 2025Article
- From the Understanding of Maternal Molecules and Mechanisms to Predicting Embryonic Development.Reproductive medicine and biologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation embryonic developmental arrest (EDA) is a common cause of unexplained female infertility. Genetic factors are believed to be one of the primary causes contributing to EDA. In this study, we identify four novel compound heterozygous mutations in
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Identifiers
What OpenQuestion holds
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.