Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Hum Mol Genet
; 31(11): 1909-1919, 2022 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022715
3.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Hum Mol Genet
; 31(19): 3290-3298, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567543
4.
Myopia control in Mendelian forms of myopia.
Ophthalmic Physiol Opt
; 43(3): 494-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882953
5.
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Hum Mutat
; 43(3): 380-388, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001458
6.
Smartphone Use Associated with Refractive Error in Teenagers: The Myopia App Study.
Ophthalmology
; 128(12): 1681-1688, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245754
7.
Interaction between lifestyle and genetic susceptibility in myopia: the Generation R study.
Eur J Epidemiol
; 34(8): 777-784, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945054
8.
A genome-wide association study of corneal astigmatism: The CREAM Consortium.
Mol Vis
; 24: 127-142, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422769
9.
The Decreasing Prevalence of Nonrefractive Visual Impairment in Older Europeans: A Meta-analysis of Published and Unpublished Data.
Ophthalmology
; 125(8): 1149-1159, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29548645
10.
The 18th International Myopia Conference 2022 in Rotterdam, The Netherlands.
Ophthalmic Physiol Opt
; 43(3): 293-295, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37016541
11.
APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans.
PLoS Genet
; 11(8): e1005432, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26313004
12.
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Hum Mol Genet
; 24(17): 5060-8, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26049155
13.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Neurogenetics
; 17(3): 159-64, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003583
14.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Am J Hum Genet
; 93(2): 264-77, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24144296
15.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Hum Mol Genet
; 22(13): 2754-64, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23474815
16.
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Hum Genet
; 134(2): 131-46, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367360
17.
Visual consequences of refractive errors in the general population.
Ophthalmology
; 122(1): 101-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25208857
18.
Increasing Prevalence of Myopia in Europe and the Impact of Education.
Ophthalmology
; 122(7): 1489-97, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983215
19.
Prevalence of refractive error in Europe: the European Eye Epidemiology (E(3)) Consortium.
Eur J Epidemiol
; 30(4): 305-15, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25784363
20.
Management of Autoimmune Encephalitis in a 7-Year-Old Child With CTLA-4 Haploinsufficiency and AMPA Receptor Antibodies: A Case Report.
Neurol Neuroimmunol Neuroinflamm
; 11(4): e200254, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38728609