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
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
Inglês
| MEDLINE | ID: mdl-34897451
3.
GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Eur J Neurol
; 31(2): e16145, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37975799
4.
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Nucleic Acids Res
; 50(16): 9115-9126, 2022 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35993808
5.
Separation techniques for manufacturing fruit spirits: From traditional distillation to advanced pervaporation process.
Compr Rev Food Sci Food Saf
; 23(1): e13278, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38284610
6.
Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
J Biol Chem
; 298(5): 101922, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35413289
7.
Association between ovarian reserve and spontaneous miscarriage and their shared genetic architecture.
Hum Reprod
; 38(11): 2247-2258, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37713654
8.
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.
Acta Neuropathol
; 145(5): 681-705, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36929019
9.
Associations between gut microbiota and Parkinson disease: A bidirectional Mendelian randomization analysis.
Eur J Neurol
; 30(11): 3471-3477, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37159496
10.
Gut microbiota regulation of inflammatory cytokines and microRNAs in diabetes-associated cognitive dysfunction.
Appl Microbiol Biotechnol
; 107(23): 7251-7267, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37733050
11.
Genetics of progressive supranuclear palsy in a Chinese population.
Neurobiol Dis
; 172: 105819, 2022 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35842134
12.
Associations between consumption of three types of beverages and risk of cardiometabolic multimorbidity in UK Biobank participants: a prospective cohort study.
BMC Med
; 20(1): 273, 2022 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35978398
13.
Association of rare PPARGC1A variants with Parkinson's disease risk.
J Hum Genet
; 67(12): 687-690, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35996014
14.
Association between healthy lifestyle and the occurrence of cardiometabolic multimorbidity in hypertensive patients: a prospective cohort study of UK Biobank.
Cardiovasc Diabetol
; 21(1): 199, 2022 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36183084
15.
The Chinese Parkinson's Disease Registry (CPDR): Study Design and Baseline Patient Characteristics.
Mov Disord
; 37(7): 1335-1345, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35503029
16.
Clinical features and reclassification of essential tremor with NOTCH2NLC GGC repeat expansions based on a long-term follow-up.
Eur J Neurol
; 29(12): 3600-3610, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36086903
17.
Associations of baseline use of fish oil with progression of cardiometabolic multimorbidity and mortality among patients with hypertension: a prospective study of UK Biobank.
Eur J Nutr
; 61(7): 3461-3470, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35589868
18.
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.
Nucleic Acids Res
; 48(D1): D913-D926, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31642496
19.
Lack of bidirectional association between age-related macular degeneration and Alzheimer's disease: A Mendelian randomization study.
Alzheimers Dement
; 18(12): 2725-2729, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36016508
20.
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
Am J Hum Genet
; 102(6): 1031-1047, 2018 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29754769