Detalhe da pesquisa
1.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
; 194(3): e63462, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929330
2.
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
PLoS Genet
; 17(6): e1009608, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161333
3.
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat
; 43(6): 765-771, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181961
4.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934918
5.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
6.
Experiences of Genetic Counselors Practicing in Rural Areas.
J Genet Couns
; 27(1): 140-154, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28831644
7.
A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565640
8.
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Mov Disord Clin Pract
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532471
9.
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
NPJ Genom Med
; 4: 5, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30792901
10.
Exploring the anti-cancer effects of Panax notoginseng through network pharmacology and molecular modeling.
Genes Dis
; 10(6): 2229-2232, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37554206