Associated Papers
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
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
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
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 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
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
Childhood glaucoma: Implications for genetic counselling.
Maxwell G et al.
Clinical Genetics, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients.
Côrtes L et al.
Genes, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.
Chamboko CR et al.
International Journal of Molecular Sciences, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.
Shah M et al.
Journal of Clinical Medicine, 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
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
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
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.
Russell MW et al.
Data in Brief, 2019
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
Medina-Trillo C et al.
Plos One, 2019
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin J et al.
Frontiers in Genetics, 2019
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW et al.
Molecular Medicine Reports, 2018
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Primary congenital and developmental glaucomas.
Lewis CJ et al.
Human Molecular Genetics, 2017
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
García-Antón MT et al.
Plos One, 2017
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov K et al.
Journal of Glaucoma, 2016
Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo C et al.
Acta Ophthalmologica, 2016
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
Reis LM et al.
Clinical Genetics, 2016