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_2
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M et al.
Orphanet Journal of Rare Diseases, 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
A case of de Barsy syndrome with a severe eye phenotype.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R et al.
Journal of Inherited Metabolic Disease, 2011
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
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