Detalhe da pesquisa
1.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
2.
Single-cell RNA-seq analysis of mouse preimplantation embryos by third-generation sequencing.
PLoS Biol
; 18(12): e3001017, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33378329
3.
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.
J Med Genet
; 59(5): 462-469, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766934
4.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Brain
; 144(6): 1819-1832, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693509
5.
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
J Med Genet
; 57(2): 109-120, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506324
6.
Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping.
Prenat Diagn
; 40(3): 317-323, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711258
7.
Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
J Med Genet
; 56(11): 758-764, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31413119
8.
Drug-symptom networking: Linking drug-likeness screening to drug discovery.
Pharmacol Res
; 103: 105-13, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615785
9.
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.
Eur J Hum Genet
; 31(5): 504-511, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198806
10.
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
BMC Med Genomics
; 16(1): 253, 2023 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864208
11.
Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity.
Nat Commun
; 14(1): 812, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781861
12.
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Biosci Rep
; 41(6)2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33860785
13.
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.
Ann Clin Transl Neurol
; 8(6): 1330-1342, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33943039
14.
Noncarrier embryo selection and transfer in preimplantation genetic testing cycles for reciprocal translocation by Oxford Nanopore Technologies.
J Genet Genomics
; 47(11): 718-721, 2020 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775291
15.
Insights from systems pharmacology into cardiovascular drug discovery and therapy.
BMC Syst Biol
; 8: 141, 2014 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539592
16.
TCMSP: a database of systems pharmacology for drug discovery from herbal medicines.
J Cheminform
; 6: 13, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735618