Evidence map›Paper›PMID 41896555›Full record

ArticleNPJ genomic medicine2026

Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status?

Izabela Broniarek, David J Kwiatkowski, Neil Rajan, Kuniaki Seyama, Marcin Drzewiecki, Ireneusz Stolarek, Luiza Handschuh, Marek Figlerowicz, Piotr Kozlowski, Katarzyna Klonowska

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 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

10 authors.

Izabela BroniarekDepartment of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
David J KwiatkowskiCancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Neil RajanTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Kuniaki SeyamaDivision of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Marcin DrzewieckiDepartment of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Ireneusz StolarekDepartment of Molecular and Systems Biology, Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland.
Luiza HandschuhLaboratory of Genomics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Marek FiglerowiczDepartment of Molecular and Systems Biology, Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland.
Piotr KozlowskiDepartment of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Katarzyna KlonowskaDepartment of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland. kklonowska@ibch.poznan.pl.

Funding

European Regional Development Fund, Smart Growth Operational Programme POIR.04.02.00-30-5 A004/16National Science Centre 2023/49/B/NZ5/03438
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID41896555
PMCPMC13031786

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.