Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Moreno-Leon L et al.
Frontiers in Genetics, 2022
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
Uzquiano A et al.
Cell Reports, 2019
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
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