Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA et al.
Pediatrics, 2012
An intronic ABCA3 mutation that is responsible for respiratory disease.
Agrawal A et al.
Pediatric Research, 2012
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.
Bullard JE et al.
Pediatric Research, 2007
Select a paper to view details