Evidence map›Paper›PMID 42756616›Full record

ArticleHuman mutation2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Zoe Webster, Lisa Woods, Robert Dalziel, Kylie Drake, Guillem de Valles-Ibáñez, Gemma Poke

Abstract readCase Reports
In one paragraph

Article in Human mutation, 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

6 authors.

Zoe WebsterGenetic Health Services, Wellington Hospital, Health New Zealand Te Whatu Ora, Wellington, New Zealand, thewellingtonhospital.com.ORCID https://orcid.org/0000-0003-2474-5202
Lisa WoodsSchool of Mathematics and Statistics, Victoria University of Wellington, Wellington, New Zealand, victoria.ac.nz.
Robert DalzielCanterbury Health Laboratories, Health New Zealand Te Whatu Ora, Christchurch, Waitaha Canterbury, New Zealand.
Kylie DrakeCanterbury Health Laboratories, Health New Zealand Te Whatu Ora, Christchurch, Waitaha Canterbury, New Zealand.ORCID https://orcid.org/0000-0003-1405-4694
Guillem de Valles-IbáñezDo IT Now, Wellington, New Zealand.ORCID https://orcid.org/0000-0002-6242-4306
Gemma PokeGenetic Health Services, Wellington Hospital, Health New Zealand Te Whatu Ora, Wellington, New Zealand, thewellingtonhospital.com.ORCID https://orcid.org/0000-0002-8748-4866

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ciliopathies represent a diverse group of inherited disorders resulting from dysfunctional cilia. A rare subset is associated with biallelic variants in

Indexed as

AllelesGenetic Association StudiesMutationProteinsAdultCytoskeletal ProteinsFemaleGenotypeHumansIntracellular Signaling Peptides and ProteinsMutation, MissensePhenotypeCytoskeletal ProteinsIntracellular Signaling Peptides and ProteinsProteinsWDR19 protein, human

Identifiers

PMID42756616
PMCPMC13583927

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.