Evidence map›Paper›PMID 36421837›Full record

ArticleGenes2022

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio and 20 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. FamilialGenes · 2025
    Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024
    Review
  8. Article
  9. Article
  10. 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

30 authors at 9 institutions in 1 country.

Marco FerilliArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Andrea CiolfiArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-6191-0978
Lucia PedaceDepartment of Pediatric Onco-Haematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Marcello NicetaArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-4766-7753
Francesca Clementina RadioArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-1993-8018
Simone PizziArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Evelina MieleDepartment of Pediatric Onco-Haematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-4747-1032
Camilla CappellettiArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Cecilia ManciniArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Tiziana GalluccioDepartment of Pediatric Onco-Haematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Marco AndreaniDepartment of Pediatric Onco-Haematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Maria IasconeMedical Genetics Laboratory, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.ORCID 0000-0002-4707-212X
Luigi ChiriattiUnità di Genetica Medica, Grande Ospedale Metropolitano "Bianchi-Melacrino-Morelli", 89124 Reggio Calabria, Italy.
Antonio NovelliTranslational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-9037-4297
Alessia MicalizziTranslational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Marta MatraxiaTranslational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Lucia MenaleTranslational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Flavio FaletraMedical Genetics Unit, IRCCS Burlo Garofolo, 34137 Trieste, Italy.ORCID 0000-0003-1483-3612
Paolo PronteraMaternal-Infantile Department, University Hospital of Perugia, 06156 Perugia, Italy.
Alba PilottaAuxo-Endocrinology, Diabetology and Medical Genetic Unit, Department of Paediatrics, ASST Spedali Civili, 25123 Brescia, Italy.
Maria Francesca BedeschiMedical Genetic Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Clinica Mangiagalli, 20122 Milan, Italy.ORCID 0000-0002-6723-9177
Rossella CapolinoArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Anwar BabanMedical and Surgical Department of Pediatric Cardiology, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Marco SeriU.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-2425-2176
Corrado MammìUnità di Genetica Medica, Grande Ospedale Metropolitano "Bianchi-Melacrino-Morelli", 89124 Reggio Calabria, Italy.
Giuseppe ZampinoDipartimento Scienze della Vita, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Maria Cristina DigilioArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Bruno DallapiccolaArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Manuela PrioloUnità di Genetica Medica, Grande Ospedale Metropolitano "Bianchi-Melacrino-Morelli", 89124 Reggio Calabria, Italy.ORCID 0000-0002-4815-9550
Marco TartagliaArea di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0001-7736-9672
Bambino Gesù Children's Hospital · ITAzienda ospedaliera "Bianchi-Melacrino-Morelli" · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITIRCCS Materno Infantile Burlo Garofolo · ITMedica (Italy) · ITOspedale Papa Giovanni XXIII · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Perugia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInactivating

objectivewe performed microarray DNAm profiling in a set of 11 individuals with a clinical suspicion of Sotos syndrome and carrying an

resultsThe Sotos syndrome-specific DNAm signature was validated in six individuals with a clinical diagnosis of Sotos syndrome and carrying

conclusionsThe present approach solved uncertainty in cases with

Indexed as

Sotos SyndromeDNA MethylationGrowth DisordersHistone-Lysine N-MethyltransferaseHumansUncertaintyHistone-Lysine N-MethyltransferaseNSD1 protein, humandifferential diagnosisDNA methylationgenomic variant classificationNSD1overgrowthSotos syndromeVoUS validation

Identifiers

PMID36421837
PMCPMC9690023
OpenAlexW4309744099

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.