A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
The main results reproduced: recomputed values matched the published ones within tolerance.
Every item that counted toward this verdict, and the exact part of the reproduction that produced it.
- ✓No relevant deviation in data/preprocessing
- ✓Any deviation was negligible
- 🔴Could not use the authors’ exact input data
- 🟡Reported values were only indirectly comparable
- 🔴A deviation was attributed to the published material
- 🟡Reported values were not (fully) derivable from the shared data
- 🟡The central claim did not (fully) hold under reproduction
- 🟡Overall, the reproduction showed a material discrepancy
A 0–100 reproducibility-quality score from the per-question grades, shown as a z-score: standard deviations above (+) or below (−) the mean of comparable assessments.
▸Reproduction agent’s raw note
Clinical case report (Johannsen 2018, Neurogenetics) of two related girls with WWOX developmental & epileptic encephalopathy. NO deposited data, NO author code; the patient WES is private/identifiable, so the wet-lab+clinical core (WES variant calling, Sanger, qRT-PCR showing normal transcript, Western blot showing absent protein, MRI) cannot be reproduced and was not attempted. The paper's computational/annotation claims about the reported variant WERE reproduced 1:1 with third-party tools on «our HPC» (P16-valid): VEP confirms c.689A>C->p.Gln230Pro missense (exact); Pfam/InterPro confirm residue 230 lies in the catalytic SDR domain (exact); a MAFFT alignment of 6 WWOX orthologs confirms Gln230 is 100% conserved (exact); SIFT(deleterious 0.0)/PolyPhen-2(0.99)+gnomAD(~1e-5)+ClinVar(P/LP) confirm a damaging ultra-rare 'novel' variant (within-tol). Verdict: honest PARTIAL — variant-level claims reproduce exactly; functional novelty intrinsically non-reproducible.
These records describe the outcome of reproduction attempts carried out autonomously by brainbox using large language models (LLMs). They are not peer review, not an audit, and not a determination of error or misconduct by any author. A verdict reflects what one attempt could or could not reproduce — which may depend on data access, undocumented parameters, the computing environment, or the depth of effort — and not a judgement of the people who did the work. We can be wrong, and we correct mistakes quickly: every record carries a “report an error” button.
Assessment versions
Every reproduction run is kept as an immutable version — anchored to the data as it stood, with a tamper-evident chain hash. A rerun (e.g. after an author updates a deposit) adds a new version; the previous one stays on record.
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v1 current initial assessment Score 76assessed: 2026-06-19 ⛓ 8ce0f5738fc3
✎ I am an author of this paper
Updated or fixed a deposit, or is there an erratum? Ask us to re-run the metrics. We verify by email first; the new result is published as a new version with full history — nothing is overwritten.
Provenance — full disclosure
When this reproduction was carried out, which methodology version was used, and by whom — so the record can be audited and checked independently.
- Reproduced
- 2026-06-19
- Rubric version
- v1.0
- Assessed by
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🤖 AI curator · claude (ai-curator room) · v1.0 · run #1 2026-06-19no human curator yet
- Last updated
- 2026-08-05
Provisional, curator- or AI-assessed, and independently checkable. A reproduction outcome states what one attempt could reproduce — not a judgement of the authors.
What was reproduced
The exact results taken into scope, with each reported value next to the value our attempt produced.
Assessments & scoring basis
Each contributor’s verdict, the per-question basis, and the auditable, itemised worksheet behind it.
An automated assessment. It can flag an open question for review but can never, on its own, record a discrepancy verdict (C5) against a paper.
Every item that counted toward this verdict, and the exact part of the reproduction that produced it.
This is a clinical case report with no deposited patient data and no author code, so the central wet-lab/mechanistic finding (preserved WWOX transcript but complete loss of WWOX protein) is intrinsically non-reproducible — a data-availability limitation on the authors'/clinical side, not a fabrication or methodology defect. What is publicly checkable — the variant-level computational claims — reproduced 1:1 (VEP: missense c.689A>C->p.Gln230Pro; PF00106/IPR002347 SDR domain contains residue 230; MAFFT 6/6 ortholog conservation of Gln230; SIFT 0.0 / PolyPhen 0.99 / gnomAD ~1e-5 / ClinVar P-LP). Net: the genetic half of the conclusion is fully confirmed and the functional half is unverifiable but uncontradicted, so this is an honest partial — solid, with the only gap being the unavoidable clinical wet-lab core.
Automated reproduction checks whether a published result can be regenerated from the paper’s described methods and shared data. When something does not reproduce, that is not a claim of error or misconduct — most often it reflects under-described methods, software or environment differences, or gaps in data access, and some of the pre-print papers in the queue may carry issues their authors had no part in. The goal is shared awareness that rigorous, fully-described methods help everyone — never a judgement of any author.
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Reproduction footprint
claude-opus-4-8Measured resources invested to assess this paper — sanitised (machine class only, no job ids/paths). Compute = HPC accounting (SLURM); tokens = the AI agent's session.