Paper · 41523913

RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics.

Ren J and 16 others. Hum Mutat, 2026. Cited by 0 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics. Papers, record 41523913. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/41523913

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics.; PubMed
Journal: Hum Mutat; PubMed
Year: 2026; PubMed
Publication types: Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/41523913/; PubMed
DOI: https://doi.org/10.1155/humu/9635551; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC12781863/; PubMed
The journal: https://conductscience.org/library/journal-index/9215429; PubMed
Citations, by iCite: 0; iCite
Revised in PubMed: 2026-09-26; PubMed

Authors17

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename	ORCID iD
1	Ren J	Jinlin
2	Dai C	Congling	https://orcid.org/0009-0000-5093-7959
3	Meng F	Fei
4	Zhang P	Pan
5	Xie C	Chunbo
6	Xiao W	Wenjuan
7	He W	Wenbin
8	Yuan S	Shimin
9	Li X	Xiurong
10	Zhang Q	Qianjun

1 to 10 of 17Source PubMed

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Topics8

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Rare Diseases	Major topic
Lymphocytes	Major topic
RNA Splicing	Major topic
RNA-Seq	Major topic
Humans
Female
Exome Sequencing
Male

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References43

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	37,924,330	Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.	JAMA Oncol	2024	https://conductscience.org/library/papers/37924330	PubMed
2	39,252,027	Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.	Genome Med	2024	https://conductscience.org/library/papers/39252027	PubMed
3	31,659,324	The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy.	Nat Genet	2019	https://conductscience.org/library/papers/31659324	PubMed
4	35,121,647	RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.	J Med Genet	2022	https://conductscience.org/library/papers/35121647	PubMed
5	25,516,281	Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2.	Genome Biol	2014	https://conductscience.org/library/papers/25516281	PubMed
6	31,160,820	Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.	Nat Med	2019	https://conductscience.org/library/papers/31160820	PubMed
7	30,423,086	fastp: an ultra-fast all-in-one FASTQ preprocessor.	Bioinformatics	2018	https://conductscience.org/library/papers/30423086	PubMed
8	30,287,922	Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.	Genet Med	2019	https://conductscience.org/library/papers/30287922	PubMed
9	28,424,332	Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.	Sci Transl Med	2017	https://conductscience.org/library/papers/28424332	PubMed
10	29,485,237	Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.	CA Cancer J Clin	2018	https://conductscience.org/library/papers/29485237	PubMed

1 to 10 of 43

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Cited by2

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 0 citations.

PMID	Title	Journal	Year	In Papers	Source
42,953,568	Integrating multi-omics with machine learning: from genomic variant functional annotation to pharmacogenomics and biomarker discovery.	Front Pharmacol	2026	https://conductscience.org/library/papers/42953568	PubMed
41,523,913	RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics.	Hum Mutat	2026	https://conductscience.org/library/papers/41523913	PubMed

Genes0

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None in this release.

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

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PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

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ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

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ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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