Rett-like Phenotypes in

Joseph Nicho Gonzalez, Sylvie Goldman, Melissa T Carter, Jennifer M Bain

Open access · goldAbstract read

In one paragraph

Article in Genes, 2023. 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

1.3field-weighted citation impact, top 18% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

Natural Course ofChildren (Basel, Switzerland) · 2023
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

4 authors at 4 institutions in 2 countries.

Joseph Nicho GonzalezVagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

Sylvie GoldmanDepartment of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.

Melissa T CarterDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.

Jennifer M BainDepartment of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0002-6642-8902

Children's Hospital of Eastern Ontario · CAColumbia University · USColumbia University Irving Medical Center · USMorgan Stanley Children's Hospital · US

Funding

Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025

$99.0M

NCATS NIH HHS UL1 TR001873

6 · The paper itself

Abstract

Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along with hand stereotypies, gait abnormalities, and loss of acquired speech. Atypical RTT is diagnosed when a child shows some but not all the phenotypes of classic RTT, along with additional supporting criteria. Over 95% of classic RTT cases are attributed to pathogenic variants in Methyl-CpG Binding Protein 2 (

Indexed as

Intellectual DisabilityRett SyndromeChild, PreschoolFemaleHeterogeneous-Nuclear Ribonucleoprotein Group F-HHumansMutationPhenotypeHeterogeneous-Nuclear Ribonucleoprotein Group F-HHNRNPH2 protein, humanHNRNPH2HNRNPH2-related neurodevelopmental disorder (HNRNPH2-RNDD)neurodevelopmental disorderneurodevelopmental disorder (NDD)Rett-like phenotypesRett Syndrome

Identifiers

PMID37372334

DOI10.3390/genes14061154

PMCPMC10298048

OpenAlexW4378471686

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.