Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
Am J Hum Genet
; 109(2): 210-222, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065709
3.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
4.
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.
Proc Natl Acad Sci U S A
; 119(20): e2118510119, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561216
5.
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
J Med Genet
; 60(12): 1245-1249, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460203
6.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
7.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
8.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
; 130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934205
9.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Clin Genet
; 104(4): 418-426, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321975
10.
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
J Med Genet
; 59(4): 385-392, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766936
11.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879512
12.
LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.
Retina
; 43(1): 88-93, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36165842
13.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817297
14.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
15.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
16.
Small molecules restore the function of mutant CLC5 associated with Dent disease.
J Cell Mol Med
; 25(2): 1319-1322, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200471
17.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239721
18.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet
; 103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290152
19.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
20.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469