Evidence map›Paper›PMID 42707522›Full record

ArticleClinical case reports2026

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin-Siris Syndrome and Sialuria From India.

Aparna Bhanushali, Archana Kawalakatt, Smita Kulkarni, Preethi Nair, Ankita Mali, Ashlesha Pradhan, Anirvan Chatterjee

Abstract read
In one paragraph

Article in Clinical case reports, 2026. 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.

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

7 authors.

Aparna BhanushaliHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.ORCID https://orcid.org/0000-0001-8410-6520
Archana KawalakattClinic for Kids Pvt. Ltd. and Currae Hospitals Pvt. Ltd. Thane India.
Smita KulkarniHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.
Preethi NairHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.
Ankita MaliHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.
Ashlesha PradhanHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.
Anirvan ChatterjeeHaystack Analytics Pvt. Ltd. IIT Bombay Mumbai India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Coffin-Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the

Indexed as

Coffin–Siris syndromeCoffin–Siris syndrome‐3global developmental delayGNEIndiasialuriaSMARCB1unexplained‐congenitalwhole exome sequencing

Identifiers

PMID42707522
PMCPMC13547574

What OpenQuestion holds

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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.