Evidence map›Paper›PMID 41010063›Full record

ArticleGenes2025

Novel

Abdullah, Thashi Bharadwaj, Saffia Javed, Hammal Khan, Anushree Acharya, Weizhen Ji, Umm-E-Kalsoom, Hamid Ali, Isabelle Schrauwen, Wasim Ahmad and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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

12 authors.

AbdullahDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.ORCID 0000-0002-7870-5655
Saffia JavedDepartment of Biochemistry, Hazara University Mansehra, Mansehra 21120, Pakistan.ORCID 0009-0000-8871-1808
Hammal KhanCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.ORCID 0000-0002-1961-8105
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Weizhen JiPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA.
Umm-E-KalsoomDepartment of Biochemistry, Hazara University Mansehra, Mansehra 21120, Pakistan.
Hamid AliDepartment of Biosciences, COMSATS University, Islamabad 45550, Pakistan.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Wasim AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Saquib A LakhaniPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA.ORCID 0000-0003-3235-3460
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.

Funding

This research was funded by Higher Education Commission of Pakistan, Pediatric Genomics Discovery Program (PGDP), Yale School of Medicine CT, USA and the Department of Neurology, Columbia University Medical Centre, New York, NY, USA. # No grant funding #
6 · The paper itself

Abstract

backgroundExtra digits on the hands and/or feet are a frequent condition known as polydactyly. Twelve nonsyndromic polydactyly genes have been identified, including

methodsFour consanguineous Pakistani families that segregate nonsyndromic postaxial polydactyly (PAP) with an autosomal recessive mode of inheritance were clinically and genetically evaluated. Exome sequencing or genotyping of polymorphic microsatellite markers followed by Sanger sequencing were used to identify the variants underlying the PAP etiology.

resultsThree novel

conclusionsThe findings of this study expanded the clinical and genetic spectrum of PAP due to

Indexed as

FingersPolydactylyToesCodon, NonsenseConsanguinityExome SequencingFemaleHumansMaleMutation, MissensePakistanPedigreeCodon, Nonsenseexome and Sanger sequencingKIAA0825nonsyndromic autosomal recessive postaxial polydactyly (PAP)PAP type A and type B

Identifiers

PMID41010063
PMCPMC12469399

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.