Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Joubert syndrome: Molecular basis and treatment.
Spahiu L et al.
Journal of Mother and Child, 2022
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M et al.
The Lancet. Neurology, 2013
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM et al.
Nature Genetics, 2010
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