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A synonymous variant is unmasked in thalassaemia

British journal of haematology, 2024-02, Vol.204 (2), p.399-401

2024

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Multiple mechanisms contribute to the phenotypic effects of synonymous variants

Human mutation, 2022-12, Vol.43 (12), p.2324-2325

2022

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Recent advances in (therapeutic protein) drug development

F1000 research, 2017, Vol.6, p.113

2017

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von Willebrand factor/ADAMTS‐13 interactions at birth: implications for thrombosis in the neonatal period

Journal of thrombosis and haemostasis, 2019-03, Vol.17 (3), p.429-440

2019

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Contribution of ADAMTS13‐independent VWF regulation in sickle cell disease

Journal of thrombosis and haemostasis, 2022-09, Vol.20 (9), p.2098-2108

2022

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Protein Therapeutics

1st ed. 2017., 2017

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Understanding the contribution of synonymous mutations to human disease

Nature reviews. Genetics, 2011-10, Vol.12 (10), p.683-691

2011

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A new and updated resource for codon usage tables

BMC bioinformatics, 2017-09, Vol.18 (1), p.391-391, Article 391

2017

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Single Nucleotide Polymorphisms: Human Variation and a Coming Revolution in Biology and Medicine

1, 2022

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Coagulopathy and Thrombosis as a Result of Severe COVID-19 Infection: A Microvascular Focus

Thrombosis and haemostasis, 2020-12, Vol.120 (12), p.1668-1679

2020

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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e840-n/a

2019

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In silico methods for predicting functional synonymous variants

Genome Biology, 2023-05, Vol.24 (1), p.126-126, Article 126

2023

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Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

British journal of haematology, 2013-03, Vol.160 (6), p.825-837

2013

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Ribosome profiling of HEK293T cells overexpressing codon optimized coagulation factor IX [version 2; peer review: 3 approved]

F1000 research, 2020, Vol.9, p.174

2020

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MDR1 Synonymous Polymorphisms Alter Transporter Specificity and Protein Stability in a Stable Epithelial Monolayer

Cancer research (Chicago, Ill.), 2014-01, Vol.74 (2), p.598-608

2014

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Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct Minima

Journal of molecular biology, 2008-11, Vol.383 (2), p.281-291

2008

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Mouse embryo CoCoPUTs: novel murine transcriptomic-weighted usage website featuring multiple strains, tissues, and stages

BMC bioinformatics, 2024-09, Vol.25 (1), p.294-14, Article 294

2024

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Gene variants of coagulation related proteins that interact with SARS-CoV-2

PLoS computational biology, 2021-03, Vol.17 (3), p.e1008805

2021

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Analysis of 3.5 million SARS-CoV-2 sequences reveals unique mutational trends with consistent nucleotide and codon frequencies

Virology journal, 2023-02, Vol.20 (1), p.31-22, Article 31

2023

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A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

International journal of molecular sciences, 2019-11, Vol.20 (22), p.5734

2019

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Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage

Genome medicine, 2021-07, Vol.13 (1), p.122-122, Article 122

2021

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Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 Gene

PloS one, 2015-07, Vol.10 (7), p.e0132433-e0132433

2015

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Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches

PloS one, 2012-06, Vol.7 (6), p.e38864

2012

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Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins

STAR protocols, 2022-09, Vol.3 (3), p.101648, Article 101648

2022

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An Optimized Purification Design for Extracting Active ADAMTS13 from Conditioned Media

Processes, 2022-02, Vol.10 (2), p.322

2022

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A synonymous variant is unmasked in thalassaemia

Multiple mechanisms contribute to the phenotypic effects of synonymous variants

Recent advances in (therapeutic protein) drug development

von Willebrand factor/ADAMTS‐13 interactions at birth: implications for thrombosis in the neonatal period

Contribution of ADAMTS13‐independent VWF regulation in sickle cell disease

Protein Therapeutics

Understanding the contribution of synonymous mutations to human disease

A new and updated resource for codon usage tables

Single Nucleotide Polymorphisms: Human Variation and a Coming Revolution in Biology and Medicine

Coagulopathy and Thrombosis as a Result of Severe COVID-19 Infection: A Microvascular Focus

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

In silico methods for predicting functional synonymous variants

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Ribosome profiling of HEK293T cells overexpressing codon optimized coagulation factor IX [version 2; peer review: 3 approved]

MDR1 Synonymous Polymorphisms Alter Transporter Specificity and Protein Stability in a Stable Epithelial Monolayer

Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct Minima

Mouse embryo CoCoPUTs: novel murine transcriptomic-weighted usage website featuring multiple strains, tissues, and stages

Gene variants of coagulation related proteins that interact with SARS-CoV-2

Analysis of 3.5 million SARS-CoV-2 sequences reveals unique mutational trends with consistent nucleotide and codon frequencies

A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage

Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 Gene

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches

Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins

An Optimized Purification Design for Extracting Active ADAMTS13 from Conditioned Media

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