Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA et al.
American Journal of Respiratory and Critical Care Medicine, 2023
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M et al.
American Journal of Respiratory and Critical Care Medicine, 2022
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
Galambos C et al.
The European Respiratory Journal, 2019
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
Spielmann M et al.
Journal of Medical Genetics, 2017
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