Evidence map›Paper›PMID 36745127›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C Kurtz-Nelson, Kaitlyn P Ahlers and 45 more

Open access · greenAbstract readPublished Erratum
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 38% of its field
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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

55 authors.

Pleuntje J van der Sluijs
Marieke Joosten
Caroline Alby
Tania Attié-Bitach
Kelly Gilmore
Christele Dubourg
Mélanie Fradin
Tianyun Wang
Evangeline C Kurtz-Nelson
Kaitlyn P Ahlers
Peer Arts
Christopher P Barnett
Myla Ashfaq
Anwar Baban
Myrthe van den Born
Sarah Borrie
Tiffany Busa
Alicia Byrne
Miriam Carriero
Claudia Cesario
Karen Chong
Anna Maria Cueto-González
Jennifer C Dempsey
Karin E M Diderich
Dan Doherty
Stense Farholt
Erica H Gerkes
Svetlana Gorokhova
Lutgarde C P Govaerts
Pernille A Gregersen
Scott E Hickey
Mathilde Lefebvre
Francesca Mari
Jelena Martinovic
Hope Northrup
Melanie O'Leary
Kareesma Parbhoo
Sophie Patrier
Bernt Popp
Fernando Santos-Simarro
Corinna Stoltenburg
Christel Thauvin-Robinet
Elisabeth Thompson
Anneke T Vulto-van Silfhout
Farah R Zahir
Hamish S Scott
Rachel K Earl
Evan E Eichler
Neeta L Vora
Yael Wilnai
Jessica L Giordano
Ronald J Wapner
Jill A Rosenfeld
Monique C Haak
Gijs W E Santen

Funding

Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI Sandra E Juul · 2020 to 2026
$9.9M
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
NICHD NIH HHS P50 HD103524NIMH NIH HHS R01 MH101221
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID36745127
PMCPMC9983121
OpenAlexW4319082513

What OpenQuestion holds

Textmetadata
LicenceTDM
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.