Detalhe da pesquisa
1.
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome.
Nucleic Acids Res;
52(D1): D1478-D1489, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37956311
2.
Genetic landscape of human mitochondrial genome using whole-genome sequencing.
Hum Mol Genet;
31(11): 1747-1761, 2022 06 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34897451
3.
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Nucleic Acids Res;
50(16): 9115-9126, 2022 09 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35993808
4.
Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
Hum Reprod;
38(11): 2247-2258, 2023 11 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37713654
5.
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.
Nucleic Acids Res;
48(D1): D913-D926, 2020 01 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31642496
6.
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain;
143(7): 2220-2234, 2020 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32613234
7.
Verbal-spatial IQ discrepancies impact brain activation associated with the resolution of cognitive conflict in children and adolescents.
Dev Sci;
21(2)2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28198067
8.
PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain;
144(3): e25, 2021 04 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33793763
9.
A Delay-Aware and Reliable Data Aggregation for Cyber-Physical Sensing.
Sensors (Basel);
17(2)2017 Feb 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28218668
10.
ATP10B variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Acta Neuropathol;
141(5): 805-806, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33599816
11.
Casual associations between brain structure and sarcopenia: A large-scale genetic correlation and mendelian randomization study.
Aging Cell;
: e14252, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38881464
12.
Establishment of machine learning-based tool for early detection of pulmonary embolism.
Comput Methods Programs Biomed;
244: 107977, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38113803
13.
Risk factors associated with age at onset of Parkinson's disease in the UK Biobank.
NPJ Parkinsons Dis;
10(1): 3, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38167894
14.
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
EBioMedicine;
99: 104928, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38113761
15.
A comprehensive perspective of Huntington's disease and mitochondrial dysfunction.
Mitochondrion;
70: 8-19, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36906250
16.
Interactions of genetic risks for autism and the broad autism phenotypes.
Front Psychiatry;
14: 1110080, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37102084
17.
Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.
J Autism Dev Disord;
2022 Nov 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36445517
18.
Revealing a novel contributing landscape of ferroptosis-related genes in Parkinson's disease.
Comput Struct Biotechnol J;
20: 5218-5225, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36187920
19.
Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants.
Genomics Proteomics Bioinformatics;
2022 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35272052
20.
Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.
J Autism Dev Disord;
52(3): 1299-1313, 2022 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33970367