The Oculome Panel Test Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Journal
Ophthalmology
ISSN
0161-6420
Date Issued
2019
Author(s)
Aara Patel
Jane D. Hayward
Vijay Tailor
Rodney Nyanhete
Helena Ahlfors
Camila Gabriel
Tommaso B. Jannini
Yassir Abbou-Rayyah
Robert Henderson
Ken K. Nischal
Lily Islam
Maria Bitner-Glindzicz
Jane Hurst
Leonardo E. Valdivia
Mariya Moosajee
John Brookes
Maria Papadopoulos
Peng T. Khaw
Thomas Cullup
Lucy Jenkins
Annegret Dahlmann-Noor
Jane C. Sowden
Type
Resource Types::text::journal::journal article
Subjects
anterior segment dysgenesis
;
childhood blindness
;
congenital cataract
;
susceptibility loci
;
medical genetics
;
american-college
;
united-kingdom
;
mutations
;
foxc1
;
anophthalmia
;
adolescent
;
child
;
child, preschool
;
dna copy number variations
;
eye abnormalities
;
female
;
genome, human
;
high-throughput nucleotide sequencing
;
humans
;
infant
;
infant, newborn
;
male
;
molecular diagnostic techniques
;
mutation
;
pedigree
;
proteome
;
aldh1a3 protein
;
cytochrome p450 1b1
;
genomic dna
;
growth differentiation factor 3
;
growth differentiation factor 6
;
protein
;
transcription factor foxc1
;
unclassified drug
;
proteome
;
adolescent
;
albinism
;
anophthalmia
;
article
;
bioinformatics
;
child
;
coloboma
;
congenital cataract
;
controlled study
;
copy number variation
;
diagnostic test
;
diagnostic value
;
ethnicity
;
eye disease
;
female
;
gene frequency
;
genetic association
;
genetic variability
;
heterozygote
;
high throughput sequencing
;
human
;
infant
;
major clinical study
;
male
;
microphthalmia
;
molecular diagnosis
;
newborn
;
next generation sequencing
;
optic nerve atrophy
;
phenotype
;
pilot study
;
priority journal
;
retina dystrophy
;
strabismus
;
eye malformation
;
genetics
;
human genome
;
molecular diagnosis
;
mutation
;
pedigree
;
preschool child
;
procedures