Evidence map›Paper›PMID 42502410›Full record

ArticleiScience2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda, Hiroshi Yoshihashi, Nobuhiko Okamoto, Akane Kondo, Rika Kosaki, Kenichi Kashimada, Toshihide Kurihara, Meow-Keong Thong and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 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

28 authors.

Yuka NakanoCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Hisato SuzukiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Yukiko KurodaDivision of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Hiroshi YoshihashiDepartment of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Akane KondoPerinatal Medical Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Kagawa, Japan.
Rika KosakiDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Kenichi KashimadaDivision of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
Toshihide KuriharaDepartment of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Meow-Keong ThongGenetics Medicine Unit, Universiti Malaya Medical Centre, Kuala Lumpur, Malaysia.
Sok-Kun TaeGenetics Medicine Unit, Universiti Malaya Medical Centre, Kuala Lumpur, Malaysia.
Mazlan RifhanGenetics Medicine Unit, Universiti Malaya Medical Centre, Kuala Lumpur, Malaysia.
Takashi EnokizonoDepartment of Child Health, Institute of Medicine, University of Tsukuba, Ibaraki, Japan.
Hiroshi SuzumuraDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
Takeshi YoshidaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Shinji KosugiDepartment of Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Seiji MizunoDepartment of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
Mie InabaDepartment of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
Natsuki NakamuraDepartment of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
Mayumi MatsufujiDepartment of Pediatrics, Kagoshima City Hospital, Kagoshima, Japan.
Eri OgawaDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Hitomi YagiDepartment of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Mamiko YamadaCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Emi QianCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Daisuke NakatoCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Toshiki TakenouchiDepartment of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Fuyuki MiyaCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in small nuclear RNA (snRNA) genes have recently emerged as a major cause of Mendelian disorders, particularly neurodevelopmental disorders, yet they remain difficult to detect in routine diagnostics because conventional whole-exome sequencing (WES) does not capture snRNA loci. Here, we reanalyzed whole-genome sequencing (WGS) data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including

Indexed as

extended whole-exome sequencingRNU2-2RNU4-2RNU4ATACRNU5B-1small nuclear non-coding RNAsnRNAwhole-genome sequencing

Identifiers

PMID42502410
PMCPMC13400782

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.