Evidence map›Paper›PMID 38723631›Full record

ArticleAmerican journal of human genetics2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis and 53 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2024. 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. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

63 authors.

Maimuna S Paul
Sydney L Michener
Hongling Pan
Hiuling Chan
Jessica M Pfliger
Jill A Rosenfeld
Vanesa C Lerma
Alyssa Tran
Megan A Longley
Richard A Lewis
Monika Weisz-Hubshman
Mir Reza Bekheirnia
Nasim Bekheirnia
Lauren Massingham
Michael Zech
Matias Wagner
Hartmut Engels
Kirsten Cremer
Elisabeth Mangold
Sophia Peters
Jessica Trautmann
Claudia Perne
Jessica L Mester
Maria J Guillen Sacoto
Richard Person
Pamela P McDonnell
Stacey R Cohen
Laina Lusk
Ana S A Cohen
Jean-Baptiste Le Pichon
Tomi Pastinen
Dihong Zhou
Kendra Engleman
Caroline Racine
Laurence Faivre
Sébastien Moutton
Anne-Sophie Denommé-Pichon
Hyun Yong Koh
Annapurna Poduri
Jeffrey Bolton
Cordula Knopp
Dong Sun Julia Suh
Andrea Maier
Mehran Beiraghi Toosi
Ehsan Ghayoor Karimiani
Reza Maroofian
Gerald Bradley Schaefer
Vijayalakshmi Ramakumaran
Pradeep Vasudevan
Benito Banos-Pinero
Alistair T Pagnamenta
Chitra Prasad
Matthew Osmond
Sarah Schuhmann
Georgia Vasileiou
Sophie Russ-Hall
Ingrid E Scheffer
Gemma L Carvill
Heather Mefford
Undiagnosed Diseases Network
Carlos A Bacino
Brendan H Lee
Hsiao-Tuan Chao 趙孝端

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID38723631
PMCPMC11179399

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.