Detalhe da pesquisa
1.
Molecular Crowding: The History and Development of a Scientific Paradigm.
Chem Rev
; 124(6): 3186-3219, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466779
2.
Patients with Asian-type DEL can safely be transfused with RhD-positive blood.
Blood
; 141(17): 2141-2150, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638337
3.
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Hum Genomics
; 18(1): 21, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414044
4.
Expanding ACMG variant classification guidelines into a general framework.
Hum Genomics
; 16(1): 31, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974416
5.
Molecular and serological analysis of the D variant in the Chinese population and identification of seven novel RHD alleles.
Transfusion
; 63(2): 402-414, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36382965
6.
Anti-D alloimmunization by Asia type DEL red blood cell units in a D-negative Thai patient.
Transfus Apher Sci
; 62(6): 103837, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872073
7.
Chemical Imaging of RNA-Tau Amyloid Fibrils at the Nanoscale Using Tip-Enhanced Raman Spectroscopy.
Angew Chem Int Ed Engl
; 62(50): e202314369, 2023 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37905600
8.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
9.
The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.
Transfusion
; 62(4): 758-763, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098548
10.
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Blood Cells Mol Dis
; 87: 102527, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341511
11.
Diffusivelike Motions in a Solvent-Free Protein-Polymer Hybrid.
Phys Rev Lett
; 126(8): 088102, 2021 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709739
12.
Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.
Transfusion
; 61(3): 931-938, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377204
13.
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion
; 61(8): 2468-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110623
14.
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
J Med Genet
; 57(10): 708-716, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161152
15.
Cofactors are essential constituents of stable and seeding-active tau fibrils.
Proc Natl Acad Sci U S A
; 115(52): 13234-13239, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30538196
16.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
17.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
18.
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens.
Transfus Med Hemother
; 47(1): 23-32, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32110191
19.
Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors.
Transfus Med Hemother
; 47(1): 54-60, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32110194
20.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Hum Mutat
; 40(10): 1856-1873, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131953