Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.
McGrath-Cadell L et al.
Journal of the American Heart Association, 2025
ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.
Bharde A et al.
The Journal of Liquid Biopsy, 2025
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Richer J et al.
Journal of Medical Genetics, 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
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient.
Velchev JD et al.
Stem Cell Research, 2022
Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.
Keravnou A et al.
Molecular Genetics & Genomic Medicine, 2020
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
Meier N et al.
Molecular Genetics & Genomic Medicine, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Arnaud P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Familial Spontaneous Coronary Artery Dissection and the SMAD-3 Mutation.
Solomonica A et al.
The American Journal of Cardiology, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM et al.
Journal of Medical Genetics, 2019
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.
Courtois A et al.
European Journal of Medical Genetics, 2017
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
Zhang W et al.
Biomed Research International, 2015
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M et al.
Plos One, 2014