Evidence map›Paper›PMID 41935529›Full record

ArticleAmerican journal of human genetics2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Agatha Schlüter, Edgard Verdura, Gorka Gereñu, Andrés Jiménez-Zúñiga, Alejandro Iñañez and 36 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

46 authors.

Laura Planas-Serra
Mar Rodríguez-Ruiz
Eric Nathaniel Anderson
Agustí Rodríguez-Palmero
Valentina Vélez-Santamaria
Agatha Schlüter
Edgard Verdura
Gorka Gereñu
Andrés Jiménez-Zúñiga
Alejandro Iñañez
Josefina Casas
Joan Josep Bech
Tatiani Brenelli De Lima
Carolina De La Torre
Juan José Martínez
Montserrat Ruiz
Stéphane Fourcade
Maria Iascone
Romano Tenconi
Kolja Meier
Susann Diegmann
Reagan H C Lee
Bakht Beland
Asif Mir
Hossein Darvish
Wendy Chung
Ehsan Ghayoor Karimiani
Suzanne M Leal
Isabelle Schrauwen
Susanna Öhman
Irma Järvelä
Johanna Granvik
Karit Reinson
Elvira Kurvinen
Katrin Õunap
Annemarie Schwan
Konrad Platzer
Tuğba Kalayci
Shahrashoub Sharifi
G Christoph Korenke
Henry Houlden
Reza Maroofian
Adolfo López de Munaín
Carlos Casasnovas
Udai Bhan Pandey
Aurora Pujol

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID41935529
PMCPMC13277678

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.