Detalhe da pesquisa
1.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Blood
; 142(24): 2055-2068, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647632
2.
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.
PLoS Genet
; 17(1): e1009284, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465109
3.
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
Blood
; 134(23): 2070-2081, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217188
4.
Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: A case control and allele frequency study.
Transfusion
; 61(8): 2439-2449, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960432
5.
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations.
Nucleic Acids Res
; 44(3): 1449-70, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762977
6.
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Nat Commun
; 14(1): 5023, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596262
7.
Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes.
J Thromb Haemost
; 20(8): 1759-1765, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35514262
8.
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
Thromb Haemost
; 122(8): 1369-1378, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764313
9.
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.
Clin Epigenetics
; 14(1): 39, 2022 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279219
10.
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Genome Med
; 10(1): 95, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526634