Evidence map›Paper›PMID 30006447›Full record

ArticleHaematologica2018

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Simon Berhe, Matthew M Heeney, Dean R Campagna, John F Thompson, Eric J White, Tristen Ross, Roy W A Peake, Jeffery D Hanrahan, Vilmarie Rodriguez, Deborah L Renaud and 4 more

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

Article in Haematologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 30% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Leber's hereditary optic neuropathy like disease inAmerican journal of ophthalmology case reports · 2024
    Article
  3. Article
  4. Review
  5. Review
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

14 authors at 7 institutions in 1 country.

Simon BerheDepartment of Pathology, Boston Children's Hospital, MA.
Matthew M HeeneyDana-Farber/Boston Children's Cancer and Blood Disorders Center, MA.
Dean R CampagnaDepartment of Pathology, Boston Children's Hospital, MA.
John F ThompsonClaritas Genomics, Cambridge, MA.
Eric J WhiteClaritas Genomics, Cambridge, MA.
Tristen RossClaritas Genomics, Cambridge, MA.
Roy W A PeakeDepartment of Laboratory Medicine, Boston Children's Hospital, MA.
Jeffery D HanrahanDriscoll Children's Hospital, Corpus Christi, TX.
Vilmarie RodriguezDepartment of Pediatrics.
Deborah L RenaudDepartment of Pediatrics.
Mrinal S PatnaikDepartment of Medicine Mayo Clinic, Rochester, MN.
Eugenia ChangSt. Luke's Health System, Boise, ID.
Sylvia S BottomleyDepartment of Medicine, University of Oklahoma College of Medicine, OK, USA.
Mark D FlemingDepartment of Pathology, Boston Children's Hospital, MA mark.fleming@childrens.harvard.edu.
Boston Children's Hospital · USClaritas Genomics (United States) · USDana-Farber/Boston Children's Cancer and Blood Disorders Center · USDriscoll Children's Hospital · USMayo Clinic in Arizona · USSaint Luke's Health System · USUniversity of Oklahoma · US

Funding

ZESTRIL VS. VERAPAMIL IN THE TREATMENT OF HYPERTENSIONM01RR000585 · NCRR · MAYO CLINIC ROCHESTER · PI RIZZA, ROBERT A. · 1985 to 2006
$30.4M
Institutional Career Development CoreKL2TR002379 · NCATS · MAYO CLINIC ROCHESTER · PI NILUFER ERTEKIN-TANER · 2017 to 2026
$14.9M
Molecular Genetics of Sideroblastic AnemiaR01DK087992 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI FLEMING, MARK D · 2011 to 2015
$2.0M
NCATS NIH HHS KL2 TR002379NCRR NIH HHS M01 RR000585NIDDK NIH HHS R01 DK087992
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Mutation, MissenseAdolescentAnemia, SideroblasticChildDNA, MitochondrialDNA Mutational AnalysisFemaleGenetic Association StudiesGenetic Diseases, X-LinkedHumansInfantMaleMitochondrial Proton-Translocating ATPasesPoint MutationRecurrenceSyndromeDNA, MitochondrialMitochondrial Proton-Translocating ATPasesMT-ATP6 protein, human

Identifiers

PMID30006447
PMCPMC6269299
OpenAlexW2884421154

What OpenQuestion holds

Textmetadata
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.