Evidence map›Paper›PMID 40780051›Full record

ArticleAmerican journal of human genetics2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T Bjornsson, Jacqueline Harris, David A Dyment, Gail E Graham, Marjan M Nezarati and 52 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

62 authors.

Sanaa Choufani
Vanda McNiven
Cheryl Cytrynbaum
Maryam Jangjoo
Margaret P Adam
Hans T Bjornsson
Jacqueline Harris
David A Dyment
Gail E Graham
Marjan M Nezarati
Ritu B Aul
Claudia Castiglioni
Jeroen Breckpot
Koen Devriendt
Helen Stewart
Benito Banos-Pinero
Sarju Mehta
Richard Sandford
Carolyn Dunn
Remi Mathevet
Lionel van Maldergem
Juliette Piard
Elise Brischoux-Boucher
Antonio Vitobello
Laurence Faivre
Marie Bournez
Frederic Tran-Mau
Isabelle Maystadt
Alberto Fernández-Jaén
Sara Alvarez
Irene Díez García-Prieto
Fowzan S Alkuraya
Hessa S Alsaif
Zuhair Rahbeeni
Karen El-Akouri
Mariam Al-Mureikhi
Rebecca C Spillmann
Vandana Shashi
Pedro A Sanchez-Lara
John M Graham
Amy Roberts
Odelia Chorin
Gilad D Evrony
Minna Kraatari-Tiri
Tracy Dudding-Byth
Anamaria Richardson
David Hunt
Laura Hamilton
Sarah Dyack
Bryce A Mendelsohn
Nicolás Rodríguez
Rosario Sánchez-Martínez
Jair Tenorio-Castaño
Julián Nevado
Pablo Lapunzina
Pilar Tirado
Maria-Teresa Carminho Amaro Rodrigues
Lina Quteineh
A Micheil Innes
Antonie D Kline
P Y Billie Au
Rosanna Weksberg

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID40780051
PMCPMC12414670

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.