Associated Papers
Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.
Pedroza AJ et al.
Jtcvs Open, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD3
Loeys-Dietz syndrome with concomitant aplastic anemia.
Zha Q et al.
Annals of Hematology, 2024
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1
Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.
Mariucci E et al.
American Journal of Medical Genetics. Part A, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Detection of mutational patterns in cell-free DNA of colorectal cancer by custom amplicon sequencing.
Herrmann S et al.
Molecular Oncology, 2019
31254442 (PubMed )
Supplement: MOL2-13-1669-s002.xlsx › Primer
Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome.
Kane BS et al.
Texas Heart Institute Journal, 2019
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.
Schubert JA et al.
American Journal of Medical Genetics. Part A, 2016
HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.
Moens LN et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.
Miller ML et al.
Cell Systems, 2015
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