Evidence map›Paper›PMID 39338160›Full record

ArticleJournal of personalized medicine2024

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.

Paula Inés Buonfiglio, Agustín Izquierdo, Mariela Vanina Pace, Sofia Grinberg, Vanesa Lotersztein, Paloma Brun, Carlos David Bruque, Ana Belén Elgoyhen, Viviana Dalamón

Abstract read
In one paragraph

Article in Journal of personalized medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

9 authors.

Paula Inés BuonfiglioLaboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology "Dr. Héctor N. Torres"-National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina.ORCID 0000-0003-2985-4790
Agustín IzquierdoCenter for Endocrinological Research "Dr. César Bergadá" (CEDIE)-CONICET, FEI, Endocrinology División, Ricardo Gutiérrez Children's Hospital, Buenos Aires C1425EFD, Argentina.ORCID 0000-0003-2712-5180
Mariela Vanina PaceLaboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology "Dr. Héctor N. Torres"-National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina.ORCID 0009-0000-4674-1275
Sofia GrinbergLaboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology "Dr. Héctor N. Torres"-National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina.ORCID 0009-0002-8265-9003
Vanesa LoterszteinGenetics Service, Central Military Hospital Surgeon General "Dr. Cosme Argerich", Buenos Aires C1426, Argentina.ORCID 0000-0003-2473-5426
Paloma Brun"El Cruce" Néstor Carlos Kirchner High Complexity Hospital, Buenos Aires B1888, Argentina.
Carlos David BruquePatagonian Translational Knowledge Unit, El Calafate SAMIC High Complexity Hospital, El Calafate Z9405, Argentina.ORCID 0000-0003-0726-5418
Ana Belén ElgoyhenLaboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology "Dr. Héctor N. Torres"-National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina.ORCID 0000-0001-9487-0311
Viviana DalamónLaboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology "Dr. Héctor N. Torres"-National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina.ORCID 0000-0001-5283-4726

Funding

Grand Prix Foundation Pour L'Audition 2018Multiannual Research Project grant of the National Council for Scientific and Technical Research- CONICET PIP 2021-11220200102690COthe National Agency for Scientific and Technological Promotion Grant (ANPCyT) PICT-2018-00823
6 · The paper itself

Abstract

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS:

Indexed as

CNVsgenetic diagnosishearing lossMLPAWaardenburg syndromeWES

Identifiers

PMID39338160
PMCPMC11433630

What OpenQuestion holds

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Registered trials

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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.