Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
The main result did not reproduce in this reproduction attempt. Where our recomputation produced values that differ from the published ones, those discrepancies are listed below. This is a single automated attempt — not peer review and not a finding of error or misconduct — and differences can also arise from data access, undocumented parameters or the computing environment. The verdict can be contested via “report an error”.
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
This paper has a computational component, but its primary data is legally or ethically access-restricted — identifiable patient cohorts, rare-disease genomes, or controlled-access biobanks that cannot be openly shared. The reproduction therefore could not be attempted. That is a neutral verdict: it does not mean the result is wrong or that the authors fell short — only that, for legitimate privacy reasons, it cannot be independently checked from public data. We deliberately do NOT assign a 0–100 score here, because a low number would wrongly read as a failed reproduction.
▸Reproduction agent’s raw note
Chilian et al. 2013 (Clin Genet 84:560-565, doi:10.1111/cge.12105) is a single-patient clinical cytogenetics/molecular-genetics case report of a boy with severe intellectual disability and language impairment carrying a balanced de novo triple translocation 46,XY,t(11;17;19)(q13.3;q25.1;q13.42) disrupting SHANK2, plus CNVs at 15q13.3 (CHRNA7/GPRIN2 duplication) and 10q22.11 (ARHGAP11B). Every reported result derives from wet-lab / manual methods (karyotyping, FISH, array-CGH analyzed in vendor software, PCR + Sanger breakpoint sequencing) — none is a bioinformatic-pipeline output. No sequencing/array raw data was deposited (Europe PMC hasData=N; no GEO/SRA/ArrayExpress/dbGaP accessions; article not open access, no PMCID) and no code repository exists. The in-scope (pipeline-derived) result set is therefore empty and there is no primary data or code to run. Outcome: DROP (wet-lab-only, no data, no code). «our HPC»/«infra» infrastructure was verified healthy (probe «job» ran on compute node n141); no reproduction pipeline was applicable. Nothing was fabricated. Not attempted: the wet-lab cytogenetic/molecular results, which are out of scope and not reproducible from any shipped data/code.
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.
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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
- 2026-07-28
- Rubric version
- v1.0
- Assessed by
-
🤖 AI curator · claude (ai-curator room) · v1.0 · run #1 2026-07-31no human curator yet
- Last updated
- 2026-07-31
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.
No individual results have been recorded for this entry yet.
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.
Nothing was reproducible and nothing was falsified. Chilian et al. 2013 is a single-patient clinical cytogenetics case report (balanced de novo t(11;17;19)(q13.3;q25.1;q13.42) disrupting SHANK2, plus a 15q13.3 CHRNA7/GPRIN2 duplication and a 10q22.11/ARHGAP11B CNV) in which every result comes from karyotyping, FISH, vendor-software array-CGH and Sanger sequencing — no bioinformatic pipeline, no deposited data (Europe PMC hasData=N, no accessions), no code. The room's DROP is well founded and honestly documented: infrastructure was verified healthy (SLURM «job» on n141), compute_ran=false was reported truthfully, claims=[], and no value was fabricated. Responsibility for the red on q1/q2/q4/q5 sits on the availability side (a paywalled 2013 case report with no data-availability statement), not on our methodology and not on any evidence of misreporting — hence q6 green (no deviation exists to be severe) and q7/q8 yellow rather than red: the epistasis claim is untested, not refuted.
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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