Evidence map›Paper›PMID 41679311›Full record

ArticleAmerican journal of human genetics2026

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Esra Erkut, Cherith Somerville, Marci L B Schwartz, Laura McDonald, Qiliang Ding, Olivia M Moran, Xin Chen, Roozbeh Manshaei, Anne-Sophie Riedijk, Marie-Therese Schnürer and 42 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

52 authors.

Esra Erkut
Cherith Somerville
Marci L B Schwartz
Laura McDonald
Qiliang Ding
Olivia M Moran
Xin Chen
Roozbeh Manshaei
Anne-Sophie Riedijk
Marie-Therese Schnürer
Daniel C Koboldt
Stylianos E Antonarakis
Emma C Bedoukian
Xavier Blanc
Laura K Conlin
Helen Cox
Karin E M Diderich
Bri Dingmann
Christèle Dubourg
Frances Elmslie
Luis F Escobar
Rachel Gosselin
Maria J Guillen Sacoto
Cynthia D Haag
Lisa Herzig
Ramanand Jeeneea
Priti Kenia
Konstantinos Kolokotronis
Anna M Kopps
Christin Kupper
Hayley Lees
Jacqueline Leonard
Jonathan Levy
Rebecca Littlejohn
Demian Mayer
Kim L McBride
Scott D McLean
Nikhil Pattani
Laurence Perrin
Véronique Pingault
Chloé Quelin
Emmanuelle Ranza
Anita Rauch
Sara L Reichert
Joana Rosmaninho-Salgado
Cara Skraban
Sérgio Sousa
Melissa Stuebben
Paolo Zanoni
Raymond H Kim
Ian C Scott
Rebekah K Jobling

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID41679311
PMCPMC13087392

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.