Detalhe da pesquisa
1.
Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation.
BMC Genomics
; 23(1): 255, 2022 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366798
2.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230634
3.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2239-2247, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894701
4.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2409, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114025
5.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Hum Mutat
; 37(1): 119-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444186
6.
Ceramide kinase regulates phospholipase C and phosphatidylinositol 4, 5, bisphosphate in phototransduction.
Proc Natl Acad Sci U S A
; 106(47): 20063-8, 2009 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19892737
7.
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Eur J Hum Genet
; 27(4): 612-620, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626929
8.
PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
Epilepsy Res
; 145: 89-92, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29933145