Associated Papers
Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.
Fortún Agud M et al.
Life (basel, Switzerland), 2026
Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience
Akalın A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol.
Liasis A et al.
Ophthalmic Genetics, 2023
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Thanikachalam S et al.
Genes, 2020
Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
Wang YE et al.
Bmc Ophthalmology, 2020
Peters Plus syndrome: a recognizable clinical entity.
Demir GÜ et al.
The Turkish Journal of Pediatrics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.
Totoń-Żurańska J et al.
International Journal of Molecular Sciences, 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
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
Clinical utility gene card for: Peters plus syndrome.
Jaeken J et al.
European Journal of Human Genetics : Ejhg, 2016
Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.
de Nie KF et al.
Cornea, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Weh E et al.
Clinical Genetics, 2014
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.
Siala O et al.
Iranian Journal of Pediatrics, 2013
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Schoner K et al.
Prenatal Diagnosis, 2013
Prenatal diagnosis of fetal peters' plus syndrome: a case report.
Gupta N et al.
Case Reports in Genetics, 2013
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
Siala O et al.
Gene, 2012
Absence of NR2E1 mutations in patients with aniridia.
Corso-Díaz X et al.
Molecular Vision, 2012
Genetics of anterior segment dysgenesis disorders.
Reis LM et al.
Current Opinion in Ophthalmology, 2011
Experiences with array-based sequence capture; toward clinical applications.
Almomani R et al.
European Journal of Human Genetics : Ejhg, 2011
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
Shimizu R et al.
Congenital Anomalies, 2010
Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid J et al.
Clinical Genetics, 2009
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
Haldeman-Englert CR et al.
American Journal of Medical Genetics. Part A, 2009
Mutation analysis of B3GALTL in Peters Plus syndrome.
Reis LM et al.
American Journal of Medical Genetics. Part A, 2008