Detalhe da pesquisa
1.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
2.
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project.
J Med Genet
; 60(3): 247-253, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595280
3.
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.
Hum Genet
; 142(12): 1737-1745, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37938362
4.
Co-infections of Klebsiella pneumoniae and Elizabethkingia miricola in black-spotted frogs (Pelophylax nigromaculatus).
Microb Pathog
; 180: 106150, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196678
5.
[Study of the association of lncRNA-GAS5 gene polymorphisms with systemic lupus erythematosus in Guangxi population].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 114-120, 2023 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36585014
6.
[Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates]. / éç¨å ¨åºå ç»æµåºææ¯å¿«éè¯æå±éçæ°çå¿ç临åºå®è·µ.
Zhongguo Dang Dai Er Ke Za Zhi
; 25(2): 135-139, 2023 Feb 15.
Artigo
em Zh
| MEDLINE | ID: mdl-36854688
7.
Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort.
J Pediatr
; 242: 206-212.e6, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788679
8.
Clinical and Genetic Etiologies of Neonatal Unconjugated Hyperbilirubinemia in the China Neonatal Genomes Project.
J Pediatr
; 243: 53-60.e9, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34953813
9.
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Clin Genet
; 101(1): 101-109, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671977
10.
Co-infections of Aeromonas veronii and Nocardia seriolae in largemouth bass (Micropterus salmoides).
Microb Pathog
; 173(Pt A): 105815, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209969
11.
Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project.
Hum Mutat
; 42(4): 434-444, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502061
12.
Association of LncRNA-GAS5 gene polymorphisms and PBMC LncRNA-GAS5 level with risk of systemic lupus erythematosus in Chinese population.
J Cell Mol Med
; 25(7): 3548-3559, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728802
13.
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Crit Care Med
; 49(10): 1674-1683, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33935161
14.
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
J Med Genet
; 57(8): 558-566, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005694
15.
[Correlation of single nucleotide polymorphisms of the osteopontin gene with astheozoospermia].
Zhonghua Nan Ke Xue
; 27(6): 506-512, 2021 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-34914289
16.
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.
Hum Genet
; 139(4): 473-482, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965297
17.
PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.
Bioinformatics
; 35(19): 3559-3566, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843052
18.
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
BMC Med Genet
; 21(1): 31, 2020 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32050918
19.
Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.
Clin Genet
; 98(4): 365-373, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32712949
20.
The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.
Neurobiol Dis
; 130: 104486, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31150793