Associated Papers
Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.
Devine KR et al.
Scientific Reports, 2026
41519957 (PubMed )
Supplement: 41598_2026_35325_MOESM1_ESM.pdf
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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 › TGFBR2
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F et al.
Italian Journal of Pediatrics, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F et al.
Scientific Reports, 2018
30158670 (PubMed )
Supplement: 41598_2018_31298_MOESM1_ESM.pdf
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1
Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei.
Saarinen L et al.
Plos One, 2017
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
Yetman AT et al.
Pediatrics, 2007
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
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