Evidence map›Paper›PMID 33542026›Full record

ArticleBMJ case reports2021

Novel compound heterozygous variants in the

Sowmya Krishnan, Ankur Rughani, Anne Tsai, Sirish Palle

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 99% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025
    Observational
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

4 authors at 1 institution in 1 country.

Sowmya KrishnanPediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA sowmya-krishnan@ouhsc.edu.ORCID http://orcid.org/0000-0001-5600-0753
Ankur RughaniPediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Anne TsaiPediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Sirish PallePediatrics, Section of Gastroenterology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
University of Oklahoma Health Sciences Center · US

Funding

Tracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI PAUL G SPICER · 2013 to 2026
$68.2M
The Oklahoma Pediatric Clinical Trials NetworkUG1OD024950 · OD · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI Amanda L Bogie, Jeanie Beatrice Tryggestad · 2016 to 2026
$4.1M
NIGMS NIH HHS U54 GM104938NIH HHS UG1 OD024950
6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) consists of a group of genetically and phenotypically heterogeneous diseases characterised by bone fragility. Recent improvement in gene sequencing methods has helped us identify rare forms of OI that are inherited in an autosomal recessive manner. Paediatric endocrinology was consulted on a newborn girl with multiple fractures and wavy thin ribs noted on X-rays. In addition to the bone phenotype, she also has short stature and recurrent acute liver failure (ALF) episodes triggered by intercurrent illness. Whole exome sequencing revealed two novel compound heterozygous variants in neuroblastoma amplified sequence (

Indexed as

HeterozygoteBone Density Conservation AgentsDwarfismExome SequencingFemaleHumansInfantInfant, NewbornLiver Failure, AcuteNeoplasm ProteinsOsteogenesis ImperfectaPamidronatePhenotypeRecurrenceBone Density Conservation AgentsNBAS protein, humanNeoplasm ProteinsPamidronatecalcium and bonegeneticspaediatrics (drugs and medicines)

Identifiers

PMID33542026
PMCPMC7868262
OpenAlexW3128544416

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.