ArticleAmerican journal of medical genetics. Part A2019
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 24 citations in OpenAlex.
- Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders.Human genomics · 2026Article
- Chromosome 17q23.1-q23.2 deletion syndrome with severe pulmonary hypertension in neonates: two case reports and literature review.BMC pediatrics · 2026Review
- Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.Pediatric research · 2026Article
- Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.Clinical genetics · 2026Article
- Emerging Concepts in Fibroblast Biology and Progressive Pulmonary Fibrosis.Seminars in respiratory and critical care medicine · 2025Review
- The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.American journal of medical genetics. Part A · 2025Article
- Implementing pulmonary arterial hypertension screening amongERJ open research · 2025Article
- RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes.Pulmonary circulation · 2025Article
- Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.Italian journal of pediatrics · 2024Review
- A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.Clinical genetics · 2024Article
- Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects.Journal of cardiovascular development and disease · 2023Review
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations.NPJ genomic medicine · 2023Article
- First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.American journal of respiratory and critical care medicine · 2022Article
- Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.American journal of medical genetics. Part A · 2022Article
- 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes · 2020Review
- The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.The Journal of pediatrics · 2020Article
- TBX4 variants and pulmonary diseases: getting out of the 'Box'.Current opinion in pulmonary medicine · 2020Review
- A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.BMC medical genomics · 2020Article
- Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.PloS one · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.