Detalhe da pesquisa
1.
Molecular findings from 537 individuals with inherited retinal disease.
J Med Genet
; 53(11): 761-767, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208204
2.
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Hum Hered
; 77(1-4): 118-37, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060275
3.
Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Ophthalmology
; 121(11): 2124-37.e1-2, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25148791
4.
Genetic testing for inherited ocular disease: delivering on the promise at last?
Clin Exp Ophthalmol
; 42(1): 65-77, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-23845030
5.
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Ophthalmology
; 123(1): 217-20, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26233629
6.
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Orphanet J Rare Dis
; 11(1): 125, 2016 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27628848
7.
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Invest Ophthalmol Vis Sci
; 56(2): 883-91, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574057