Associated Papers
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-4.xlsx › Sheet1
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf
Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.
Wang H et al.
Frontiers in Genetics, 2022
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
Kar A et al.
American Journal of Medical Genetics. Part A, 2018
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