Associated Papers
Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.
Hou CX et al.
The Journal of Biological Chemistry, 2025
A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.
Ibarra-Ramírez M et al.
Genes, 2024
Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome.
Hussain SJ et al.
The Journal of the Association of Physicians of India, 2023
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_MOESM4_ESM.xlsx › Sheet1
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Haarman AEG et al.
Human Molecular Genetics, 2022
35567543 (PubMed )
Supplement: supplemental_table_1_ddac113.xlsx › Sheet1
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
Van Hoorde T et al.
Ophthalmic Genetics, 2021
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
Senthil S et al.
Ophthalmic Genetics, 2021
Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.
Lei C et al.
Molecular Genetics & Genomic Medicine, 2021
Recurrent unintentional filtering blebs after vitrectomy: A case report.
Shanmugam PM et al.
Indian Journal of Ophthalmology, 2020
Aspartate/asparagine-β-hydroxylase crystal structures reveal an unexpected epidermal growth factor-like domain substrate disulfide pattern.
Pfeffer I et al.
Nature Communications, 2019
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
Siggs OM et al.
Ophthalmic Genetics, 2019
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH et al.
American Journal of Medical Genetics. Part A, 2018
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N et al.
American Journal of Human Genetics, 2014
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