Associated Papers
ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.
Nolan J et al.
Respirology Case Reports, 2025
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.
Xiao GL et al.
World Journal of Pediatrics : Wjp, 2023
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Interventional creation of an endogenous reverse Potts shunt in an infant with pulmonary hypertension and genetic surfactant disorder-a case report.
Sallmon H et al.
Cardiovascular Diagnosis and Therapy, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.
Klay D et al.
Current Opinion in Pulmonary Medicine, 2020
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F et al.
Human Molecular Genetics, 2012
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