Detalhe da pesquisa
1.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Exp Eye Res
; 244: 109945, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815792
2.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883641
3.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287645
4.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175952
5.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hum Mutat
; 43(12): 2234-2250, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259723
6.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Clin Genet
; 97(4): 556-566, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957011
7.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540785
8.
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Genes (Basel)
; 14(1)2023 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672932
9.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
10.
Reduced ech-6 expression attenuates fat-induced lifespan shortening in C. elegans.
Sci Rep
; 12(1): 3350, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233004
11.
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation.
Biochim Biophys Acta Bioenerg
; 1862(4): 148367, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33412125