Evidence map›Paper›PMID 34815247›Full record

ArticleCold Spring Harbor molecular case studies2022

Novel

Kamal Hassan, Amal Robay, Aljazi Al-Maraghi, Nuha Nimeri, Asmaa Basheer Azzam, Alya Al Shakaki, Eman Hamid, Ronald G Crystal, Khalid A Fakhro

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

Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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 2 countries.

Kamal Hassan *Hamad Medical Corporation, Doha, Qatar.
Amal Robay *Department of Genetic Medicine, Weill Cornell Medical College-Qatar, Doha, Qatar.
Aljazi Al-MaraghiDepartment of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
Nuha NimeriHamad Medical Corporation, Doha, Qatar.
Asmaa Basheer AzzamHamad Medical Corporation, Doha, Qatar.
Alya Al ShakakiDepartment of Genetic Medicine, Weill Cornell Medical College-Qatar, Doha, Qatar.
Eman HamidHamad Medical Corporation, Doha, Qatar.
Ronald G CrystalDepartment of Genetic Medicine, Weill Cornell Medicine, New York, New York 10021, USA.
Khalid A FakhroDepartment of Genetic Medicine, Weill Cornell Medical College-Qatar, Doha, Qatar.
Hamad Medical Corporation · QASidra Medical and Research Center · QAWeill Cornell Medical College in Qatar · QAWeill Cornell Medicine · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the

Indexed as

Cytomegalovirus InfectionsMyosin Type VHumansMalabsorption SyndromesMicrovilliMucolipidosesMutationMyosin Heavy ChainsMyosinsSyriaMYO5B protein, humanMyosin Heavy ChainsMyosinsMyosin Type Vvolvulus

Identifiers

PMID34815247
PMCPMC8958910
OpenAlexW3215323771

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.