Evidence map›Paper›PMID 32344861›Full record

ArticleJournal of clinical medicine2020

Breakpoint Mapping of Symptomatic Balanced Translocations Links the

Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska and 10 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.Journal of autism and developmental disorders · 2023
    Article
  4. 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

20 authors at 7 institutions in 1 country.

Victor Murcia PienkowskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0002-1383-8019
Marzena KucharczykDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0002-7716-6821
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Barbara PoszewieckaInstitute of Informatics, Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 02-097 Warsaw, Poland.
Katarzyna PachotaDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Marlena MłynekDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Piotr StawińskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Agnieszka PollakDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Joanna KosińskaDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Katarzyna WojciechowskaDepartment of Pediatric Hematology Oncology and Transplantology, University Children's Hospital, 20-093 Lublin, Poland.
Monika LejmanDepartment of Pediatric Hematology Oncology and Transplantology, Medical University of Lublin, 20-093 Lublin, Poland.
Agata CieślikowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Dorota WicherDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0002-8360-0006
Agnieszka StembalskaDepartment of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Karolina MatuszewskaDepartment of Medical Genetics, University of Medical Sciences, 60-806 Poznan, Poland.
Anna Materna-KirylukDepartment of Medical Genetics, University of Medical Sciences, 60-806 Poznan, Poland.
Anna GambinInstitute of Informatics, Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 02-097 Warsaw, Poland.ORCID 0000-0003-3476-3017
Krystyna ChrzanowskaDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Małgorzata Krajewska-WalasekDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Children's Memorial Health Institute · PLMedical University of Warsaw · PLPoznan University of Medical Sciences · PLUniversity of Warsaw · PLMedical University of Lublin · PLUniwersytecki Szpital Dziecięcy · PLWroclaw Medical University · PL

Funding

Narodowe Centrum Nauki 2016/21/B/NZ5/02541
6 · The paper itself

Abstract

De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may provide a precise diagnosis and/or point to new disease loci. We report on six patients with de novo balanced chromosomal translocations (BCTs) and one patient with a de novo inversion, in whom we mapped breakpoints to a resolution of 1 bp, using shallow whole-genome mate pair sequencing. In all seven cases, a disruption of at least one gene was found. In two patients, the phenotypic impact of the disrupted genes is well known (

Indexed as

de novo balanced aberrationsdevelopmental delayEPHA6KLF13mate-pair sequencingUBR3

Identifiers

PMID32344861
PMCPMC7287862
OpenAlexW3020161954

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.