Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
Katneni, Upendra K., Liss, Aaron, Holcomb, David, Katagiri, Nobuko H., Hunt, Ryan, Bar, Haim, Ismail, Amra, Komar, Anton A., Kimchi‐Sarfaty, Chava
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
Get full text
Journal Article
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura
Hing, Zachary A., Schiller, Tal, Wu, Andrew, Hamasaki‐Katagiri, Nobuko, Struble, Evi Budo, Russek‐Cohen, Estelle, Kimchi‐Sarfaty, Chava
Published in British journal of haematology (01.03.2013)
Published in British journal of haematology (01.03.2013)
Get full text
Journal Article
Ribosome profiling of HEK293T cells overexpressing codon optimized coagulation factor IX [version 2; peer review: 3 approved]
Alexaki, Aikaterini, Kames, Jacob, Hettiarachchi, Gaya K, Athey, John C, Katneni, Upendra K, Hunt, Ryan C, Hamasaki-Katagiri, Nobuko, Holcomb, David D, DiCuccio, Michael, Bar, Haim, Komar, Anton A, Kimchi-Sarfaty, Chava
Published in F1000 research (2020)
Published in F1000 research (2020)
Get full text
Journal Article
A new and updated resource for codon usage tables
Athey, John, Alexaki, Aikaterini, Osipova, Ekaterina, Rostovtsev, Alexandre, Santana-Quintero, Luis V, Katneni, Upendra, Simonyan, Vahan, Kimchi-Sarfaty, Chava
Published in BMC bioinformatics (02.09.2017)
Published in BMC bioinformatics (02.09.2017)
Get full text
Journal Article
Coagulopathy and Thrombosis as a Result of Severe COVID-19 Infection: A Microvascular Focus
Katneni, Upendra K., Alexaki, Aikaterini, Hunt, Ryan C., Schiller, Tal, DiCuccio, Michael, Buehler, Paul W., Ibla, Juan C., Kimchi-Sarfaty, Chava
Published in Thrombosis and haemostasis (01.12.2020)
Published in Thrombosis and haemostasis (01.12.2020)
Get full text
Journal Article
In silico methods for predicting functional synonymous variants
Lin, Brian C, Katneni, Upendra, Jankowska, Katarzyna I, Meyer, Douglas, Kimchi-Sarfaty, Chava
Published in Genome Biology (22.05.2023)
Published in Genome Biology (22.05.2023)
Get full text
Journal Article
MDR1 Synonymous Polymorphisms Alter Transporter Specificity and Protein Stability in a Stable Epithelial Monolayer
KING LEUNG FUNG, PAN, James, OHNUMA, Shinobu, LUND, Paul E, PIXLEY, Jessica N, KIMCHI-SARFATY, Chava, AMBUDKAR, Suresh V, GOTTESMAN, Michael M
Published in Cancer research (Chicago, Ill.) (15.01.2014)
Published in Cancer research (Chicago, Ill.) (15.01.2014)
Get full text
Journal Article
Mouse embryo CoCoPUTs: novel murine transcriptomic-weighted usage website featuring multiple strains, tissues, and stages
Fumagalli, Sarah E, Smith, Sean, Ghazanchyan, Tigran, Meyer, Douglas, Paul, Rahul, Campbell, Collin, Santana-Quintero, Luis, Golikov, Anton, Ibla, Juan, Bar, Haim, Komar, Anton A, Hunt, Ryan C, Lin, Brian, DiCuccio, Michael, Kimchi-Sarfaty, Chava
Published in BMC bioinformatics (06.09.2024)
Published in BMC bioinformatics (06.09.2024)
Get full text
Journal Article
Gene variants of coagulation related proteins that interact with SARS-CoV-2
Holcomb, David, Alexaki, Aikaterini, Hernandez, Nancy, Hunt, Ryan, Laurie, Kyle, Kames, Jacob, Hamasaki-Katagiri, Nobuko, Komar, Anton A, DiCuccio, Michael, Kimchi-Sarfaty, Chava
Published in PLoS computational biology (17.03.2021)
Published in PLoS computational biology (17.03.2021)
Get full text
Journal Article
Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct Minima
Tsai, Chung-Jung, Sauna, Zuben E., Kimchi-Sarfaty, Chava, Ambudkar, Suresh V., Gottesman, Michael M., Nussinov, Ruth
Published in Journal of molecular biology (07.11.2008)
Published in Journal of molecular biology (07.11.2008)
Get full text
Journal Article
Analysis of 3.5 million SARS-CoV-2 sequences reveals unique mutational trends with consistent nucleotide and codon frequencies
Fumagalli, Sarah E, Padhiar, Nigam H, Meyer, Douglas, Katneni, Upendra, Bar, Haim, DiCuccio, Michael, Komar, Anton A, Kimchi-Sarfaty, Chava
Published in Virology journal (17.02.2023)
Published in Virology journal (17.02.2023)
Get full text
Journal Article
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Hunt, Ryan, Hettiarachchi, Gaya, Katneni, Upendra, Hernandez, Nancy, Holcomb, David, Kames, Jacob, Alnifaidy, Redab, Lin, Brian, Hamasaki-Katagiri, Nobuko, Wesley, Aaron, Kafri, Tal, Morris, Christina, Bouché, Laura, Panico, Maria, Schiller, Tal, Ibla, Juan, Bar, Haim, Ismail, Amra, Morris, Howard, Komar, Anton, Kimchi-Sarfaty, Chava
Published in International journal of molecular sciences (15.11.2019)
Published in International journal of molecular sciences (15.11.2019)
Get full text
Journal Article
Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage
Meyer, Douglas, Kames, Jacob, Bar, Haim, Komar, Anton A, Alexaki, Aikaterini, Ibla, Juan, Hunt, Ryan C, Santana-Quintero, Luis V, Golikov, Anton, DiCuccio, Michael, Kimchi-Sarfaty, Chava
Published in Genome medicine (28.07.2021)
Published in Genome medicine (28.07.2021)
Get full text
Journal Article
Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 Gene
Sarachana, Tewarit, Dahiya, Neetu, Simhadri, Vijaya L, Pandey, Gouri Shankar, Saini, Surbhi, Guelcher, Christine, Guerrera, Michael F, Kimchi-Sarfaty, Chava, Sauna, Zuben E, Atreya, Chintamani D
Published in PloS one (15.07.2015)
Published in PloS one (15.07.2015)
Get full text
Journal Article