Associated Papers
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
Neuhann L et al.
International Journal of Molecular Sciences, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Franco E et al.
Cornea, 2024
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A et al.
International Journal of Molecular Sciences, 2023
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.
Lang E et al.
Translational Vision Science & Technology, 2020
Novel candidates in early-onset familial colorectal cancer.
Jansen AML et al.
Familial Cancer, 2020
Congenital glaucoma and CYP1B1: an old story revisited.
Alsaif HS et al.
Human Genetics, 2019
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man C et al.
European Journal of Human Genetics : Ejhg, 2018
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM et al.
Molecular Vision, 2016
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0
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