Associated Papers
Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
Elksne E et al.
Biomedicines, 2025
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE et al.
Birth Defects Research, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim SH et al.
American Journal of Ophthalmology, 2013
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E et al.
Molecular Vision, 2013
Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma.
Jeannot E et al.
Cancer Research, 2007
CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma.
Cardoso MS et al.
European Journal of Ophthalmology, 0
Select a paper to view details