Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
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
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Analysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034Cys.
Somarajan BI et al.
Ophthalmic Genetics, 2025
Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
Elksne E et al.
Biomedicines, 2025
Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.
Sharma M et al.
Journal of Proteins and Proteomics, 2025
Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.
Yadav M et al.
Japanese Journal of Ophthalmology, 2025
Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.
Kim JW et al.
Pharmacological Reviews, 2025
Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
Ahmad S et al.
Scientific Reports, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Sahu A et al.
Indian Journal of Ophthalmology, 2023
CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.
Kaushik S et al.
The British Journal of Ophthalmology, 2023
Exome-based mutation screening in South African children with primary congenital glaucoma.
Carstens N et al.
Eye (london, England), 2023
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Rauf B et al.
Scientific Reports, 2022
Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.
Kaushik S et al.
American Journal of Ophthalmology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.
Shah M et al.
Journal of Clinical Medicine, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
Jemmeih S et al.
Ophthalmic Epidemiology, 2022
Mutational analysis of CYP1B1 (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.
Narsani AK et al.
Saudi Journal of Biological Sciences, 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
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.
Stingl JV et al.
Journal of Clinical Medicine, 2021
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.
Emamalizadeh B et al.
International 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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.
Afzal R et al.
Congenital Anomalies, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 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