Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
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
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R et al.
Human Molecular Genetics, 2020
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Jones LK et al.
Development (cambridge, England), 2020
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