Evidence map›Paper›PMID 39359946›Full record

ArticleMolecular syndromology2024

Miriam Bertrand, Gulalai Shah, Brent S Pedersen, Alexander Schulz, Anja Weise, Thomas Liehr, Peter Huppke, Stephanie DiTroia, Aaron R Quinlan, Tobias B Haack and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. 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
–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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Miriam BertrandInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Gulalai ShahProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brent S PedersenDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Alexander SchulzInstitute of Human Genetics, Jena University Hospital, Jena, Germany.
Anja WeiseInstitute of Human Genetics, Jena University Hospital, Jena, Germany.
Thomas LiehrInstitute of Human Genetics, Jena University Hospital, Jena, Germany.
Peter HuppkeCenter for Rare Diseases, Jena University Hospital, Jena, Germany.
Stephanie DiTroiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Aaron R QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Ralf A HusainCenter for Rare Diseases, Jena University Hospital, Jena, Germany.

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in Case Presentation: We hereby report 2 patients with clinical features of XGS. In the first patient, a Conclusion: We identified the smallest deletion comprising

Indexed as

AHDC1DeletionFoot deformityShallow genome sequencingXia-Gibbs syndrome

Identifiers

PMID39359946
PMCPMC11444710

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.