Evidence map›Paper›PMID 28690869›Full record

ArticleNPJ genomic medicine2017

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Nicolas Waespe, Santhosh Dhanraj, Manju Wahala, Elena Tsangaris, Tom Enbar, Bozana Zlateska, Hongbing Li, Robert J Klaassen, Conrad V Fernandez, Geoff D E Cuvelier and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure.Hematology. American Society of Hematology. Education Program · 2021
    Review
  3. Article
  4. [Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2021
    Article
  5. Article
  6. Article
  7. Article
  8. 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

29 authors.

Nicolas WaespeGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Santhosh DhanrajGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Manju WahalaGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Elena TsangarisGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Tom EnbarGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Bozana ZlateskaGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Hongbing LiGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Robert J KlaassenDepartment of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Conrad V FernandezPediatric Hematology/Oncology, IWK Health Centre, Halifax, NS, Canada.
Geoff D E CuvelierPediatric Hematology/Oncology, University of Manitoba, CancerCare Manitoba, Winnipeg, MB, Canada.
John K WuDivision of Hematology/Oncology, UBC & B.C. Children's Hospital, Vancouver, BC, Canada.
Yves D PastoreCHU Sainte-Justine, Montreal, QC, Canada.
Mariana SilvaKingston General Hospital, Kingston, ON, Canada.
Jeffrey H LiptonAllogeneic Blood and Marrow Transplant Program, Princess Margaret Cancer Centre, University of Toronto, Toronto, ON, Canada.
Joseé BrossardCentre Hospitalier Universitaire, Sherbrooke, QC, Canada.
Bruno MichonCentre Hospitalier Universitaire, Québec, QC, Canada.
Sharon AbishPediatric Hematology Oncology, Montreal Children's Hospital, Montreal, QC, Canada.
MacGregor SteeleAlberta Children's Hospital, Calgary, AB, Canada.
Roona SinhaRoyal University Hospital, Saskatoon, SK, Canada.
Mark J BelletruttiDepartment of Pediatrics, University of Alberta, Edmonton, AB, Canada.
Vicky R BreakeyDepartment of Pediatrics, McMaster University, Hamilton, ON, Canada.
Lawrence JardineChildren's Hospital, London Health Sciences Centre, London, ON, Canada.
Lisa GoodyearPediatric Hematology/Oncology, Janeway Child Health Centre, St. John's, NF, Canada.
Liat KoflerGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Michaela CadaInstitute of Medical Sciences, University of Toronto, Toronto, ON, Canada.
Lillian SungPopulation Health Sciences, Research Institute, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Mary ShagoCytogenetics Laboratory, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Stephen W SchererGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Yigal DrorGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.

Funding

CIHR 102528-1CIHR 126024-1
6 · The paper itself

Abstract

Inherited bone marrow failure syndromes (IBMFSs) comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants (CNVs) were reported in some IBMFSs. It is unclear what impact CNVs play in patients evaluated for a suspected diagnosis of IBMFS. Clinical and genetic data of 323 patients from the Canadian Inherited Marrow Failure Registry from 2001 to 2014, who had a documented genetic work-up, were analyzed. Cases with pathogenic CNVs (at least 1 kilobasepairs) were compared to cases with other mutations. Genotype-phenotype correlations were performed to assess the impact of CNVs. Pathogenic nucleotide-level mutations were found in 157 of 303 tested patients (51.8%). Genome-wide CNV analysis by single nucleotide polymorphism arrays or comparative genomic hybridization arrays revealed pathogenic CNVs in 11 of 67 patients tested (16.4%). In four of these patients, identification of CNV was crucial for establishing the correct diagnosis as their clinical presentation was ambiguous. Eight additional patients were identified to harbor pathogenic CNVs by other methods. Of the 19 patients with pathogenic CNVs, four had compound-heterozygosity of a CNV with a nucleotide-level mutation. Pathogenic CNVs were associated with more extensive non-hematological organ system involvement (

Indexed as

Biological sciences/Biological techniques/Genomic analysis/Comparative genomic hybridizationBiological sciences/Biological techniques/High-throughput screeningBiological sciences/Cancer/Paediatric cancerBiological sciences/Genetics/Clinical genetics/Genetic testingBiological sciences/Genetics/Genotype/Genetic predisposition to disease

Identifiers

PMID28690869
PMCPMC5498150

What OpenQuestion holds

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LicenceCC BY
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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.