Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.
Anjum I et al.
Molecular Biology Reports, 2025
Congenital glaucoma prevention program-Evaluation of patient knowledge and acceptance of genetic screening.
Alizary A et al.
Journal of Genetic Counseling, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 2025
Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.
Kim JW et al.
Pharmacological Reviews, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye.
Akbas AC et al.
Journal of Pediatric Genetics, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.
Shah M et al.
Journal of Clinical Medicine, 2022
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
Jemmeih S et al.
Ophthalmic Epidemiology, 2022
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
Tehreem R et al.
Plos One, 2022
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Congenital glaucoma and CYP1B1: an old story revisited.
Alsaif HS et al.
Human Genetics, 2019
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.
Waryah YM et al.
International Journal of Ophthalmology, 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
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
Yang Y et al.
Genetic Testing and Molecular Biomarkers, 2017