Evidence map›Paper›PMID 38749428›Full record

ArticleAmerican journal of human genetics2024

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T Alaimo, Kendra Engleman, Eric T Rush and 32 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. 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

42 authors.

Sureni V Mullegama
Kaitlyn A Kiernan
Erin Torti
Ethan Pavlovsky
Nicholas Tilton
Austin Sekula
Hua Gao
Joseph T Alaimo
Kendra Engleman
Eric T Rush
Karli Blocker
Katrina M Dipple
Veronica M Fettig
Heather Hare
Ian Glass
Dorothy K Grange
Michael Griffin
Chanika Phornphutkul
Lauren Massingham
Lakshmi Mehta
Danny E Miller
Jenny Thies
J Lawrence Merritt
Eric Muller
Matthew Osmond
Sarah L Sawyer
Rachel Slaugh
Rachel E Hickey
Barry Wolf
Care4Rare Canada Consortium
Undiagnosed Diseases Network
Sanjeev Choudhary
Miljan Simonović
Yueqing Zhang
Timothy Blake Palculict
Aida Telegrafi
Deanna Alexis Carere
Ingrid M Wentzensen
Michelle M Morrow
Kristin G Monaghan
Jane Juusola
Jun Yang

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID38749428
PMCPMC11179398

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.