Evidence map›Paper›PMID 32532883›Full record

SynthesisCold Spring Harbor molecular case studies2020

Precise breakpoint detection in a patient with 9p- syndrome.

Jeffrey Ng, Eleanor Sams, Dustin Baldridge, Milinn Kremitzki, Daniel J Wegner, Tina Lindsay, Robert Fulton, F Sessions Cole, Tychele N Turner

Open access · diamondAbstract readCase ReportsMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. CNPI: Rapid Analyses of Human Copy Number Data.Journal of molecular biology · 2025
    Article
  3. Article
  4. Review
  5. Article
  6. 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 at 4 institutions in 1 country.

Jeffrey NgDepartment of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Eleanor SamsDepartment of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Dustin BaldridgeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA.
Milinn KremitzkiMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Daniel J WegnerEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA.
Tina LindsayMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Robert FultonMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
F Sessions ColeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA.
Tychele N TurnerDepartment of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Washington University in St. Louis · USJames S. McDonnell Foundation · USMallinckrodt (United States) · USSt. Louis Children's Hospital · US

Funding

Nature and contribution of noncoding, regulatory mutations in neurodevelopmental disordersR00MH117165 · NIMH · WASHINGTON UNIVERSITY · PI TURNER, TYCHELE NAOMI · 2019 to 2021
$743k
NIMH NIH HHS R00 MH117165
6 · The paper itself

Abstract

We present a case of 9p- syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint resolution. The translocation breakpoint was at Chr 9:190938 and Chr 13:50850492, the deletion at Chr 9:1-190938, and the duplication at Chr 13:50850492-114364328. We identified genes in the deletion and duplication regions that are known to be associated with this patient's phenotype (e.g.,

Indexed as

Chromosome BreakpointsGenomicsTranslocation, GeneticChildChromosome DeletionChromosome DuplicationChromosome MappingChromosomes, Human, Pair 9Comparative Genomic HybridizationFemaleHumansKaryotypeLoss of Function MutationPhenotypeSequence Analysis, DNAautismbutterfly vertebraecongenital sensorineural hearing impairmenthemivertebraeprofound global developmental delaysuperior mesenteric artery aneurysm

Identifiers

PMID32532883
PMCPMC7304358
OpenAlexW3035236321

What OpenQuestion holds

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LicenceCC BY-NC
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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.