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3. Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect

Author

Claussnitzer, Melina, Parikh, Victoria N., Wagner, Alex H., Arbesfeld, Jeremy A., Bult, Carol J., Firth, Helen V., Muffley, Lara A., Ba, Alex N. Nguyen, Riehle, Kevin, Roth, Frederick P., Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M., and Rubin, Alan F.

Subjects
Quantitative Biology - Other Quantitative Biology
Abstract

Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines has led to a heterogeneous mix of data formats and descriptions, which complicates the downstream use of the resulting datasets. To address these issues and promote reproducibility and reuse of MAVE data, we define a set of minimum information standards for MAVE data and metadata and outline a controlled vocabulary aligned with established biomedical ontologies for describing these experimental designs.

Published
2023

4. Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

Author

Meisner, Joshua K., Renberg, Aaron, Smith, Eric D., Tsan, Yao-Chang, Elder, Brynn, Bullard, Abbey, Merritt, Owen, Zheng, Sean L., Lakdawala, Neal, Owens, Anjali, Ryan, Thomas D., Miller, Erin M., Rossano, Joseph, Lin, Kimberly Y., Claggett, Brian, Ashley, Euan, Michels, Michelle, Lampert, Rachel, Stendahl, John C., Abrahams, Dominic, Semsarian, Christopher, Parikh, Victoria N., Wheeler, Matthew, Ingles, Jodie, Day, Sharlene M., Saberi, Sara, Russell, Mark W., Previs, Michael, Ho, Carolyn, Ware, James S., and Helms, Adam S.

Published
2024
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5. Genetic architecture of cardiac dynamic flow volumes

Author

Gomes, Bruna, Singh, Aditya, O’Sullivan, Jack W., Schnurr, Theresia M., Goddard, Pagé C., Loong, Shaun, Amar, David, Hughes, J. Weston, Kostur, Mykhailo, Haddad, Francois, Salerno, Michael, Foo, Roger, Montgomery, Stephen B., Parikh, Victoria N., Meder, Benjamin, and Ashley, Euan A.

Published
2024
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6. Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry

Author

Maurizi, Niccolò, Antiochos, Panagiotis, Owens, Anjali, Lakdwala, Neal, Saberi, Sara, Russell, Mark W., Fumagalli, Carlo, Skalidis, Ioannis, Lin, Kimberly Y., Nathan, Ashwin S., De Feria Alsina, Alejandro, Reza, Nosheen, Stendahl, John C., Abrams, Dominic, Semsarian, Christopher, Clagget, Brian, Lampert, Rachel, Wheeler, Matthew, Parikh, Victoria N., Ashley, Euan, Michels, Michelle, Rossano, Joseph, Ryan, Thomas D., Ingles, Jodie, Ware, James, Ho, Carolyn Y., Helms, Adam S., Day, Sharlene M., and Olivotto, Iacopo

Published
2024
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7. Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy

Author

Parikh, Victoria N, Ioannidis, Alexander G, Jimenez-Morales, David, Gorzynski, John E, De Jong, Hannah N, Liu, Xiran, Roque, Jonasel, Cepeda-Espinoza, Victoria P, Osoegawa, Kazutoyo, Hughes, Chris, Sutton, Shirley C, Youlton, Nathan, Joshi, Ruchi, Amar, David, Tanigawa, Yosuke, Russo, Douglas, Wong, Justin, Lauzon, Jessie T, Edelson, Jacob, Mas Montserrat, Daniel, Kwon, Yongchan, Rubinacci, Simone, Delaneau, Olivier, Cappello, Lorenzo, Kim, Jaehee, Shoura, Massa J, Raja, Archana N, Watson, Nathaniel, Hammond, Nathan, Spiteri, Elizabeth, Mallempati, Kalyan C, Montero-Martín, Gonzalo, Christle, Jeffrey, Kim, Jennifer, Kirillova, Anna, Seo, Kinya, Huang, Yong, Zhao, Chunli, Moreno-Grau, Sonia, Hershman, Steven G, Dalton, Karen P, Zhen, Jimmy, Kamm, Jack, Bhatt, Karan D, Isakova, Alina, Morri, Maurizio, Ranganath, Thanmayi, Blish, Catherine A, Rogers, Angela J, Nadeau, Kari, Yang, Samuel, Blomkalns, Andra, O’Hara, Ruth, Neff, Norma F, DeBoever, Christopher, Szalma, Sándor, Wheeler, Matthew T, Gates, Christian M, Farh, Kyle, Schroth, Gary P, Febbo, Phil, deSouza, Francis, Cornejo, Omar E, Fernandez-Vina, Marcelo, Kistler, Amy, Palacios, Julia A, Pinsky, Benjamin A, Bustamante, Carlos D, Rivas, Manuel A, and Ashley, Euan A

Subjects
Biological Sciences, Genetics, Pneumonia & Influenza, Lung, Prevention, Human Genome, Clinical Research, Infectious Diseases, Infection, Good Health and Well Being, COVID-19, Genome, Viral, Genome-Wide Association Study, Humans, Pandemics, SARS-CoV-2
Abstract

The SARS-CoV-2 pandemic has differentially impacted populations across race and ethnicity. A multi-omic approach represents a powerful tool to examine risk across multi-ancestry genomes. We leverage a pandemic tracking strategy in which we sequence viral and host genomes and transcriptomes from nasopharyngeal swabs of 1049 individuals (736 SARS-CoV-2 positive and 313 SARS-CoV-2 negative) and integrate them with digital phenotypes from electronic health records from a diverse catchment area in Northern California. Genome-wide association disaggregated by admixture mapping reveals novel COVID-19-severity-associated regions containing previously reported markers of neurologic, pulmonary and viral disease susceptibility. Phylodynamic tracking of consensus viral genomes reveals no association with disease severity or inferred ancestry. Summary data from multiomic investigation reveals metagenomic and HLA associations with severe COVID-19. The wealth of data available from residual nasopharyngeal swabs in combination with clinical data abstracted automatically at scale highlights a powerful strategy for pandemic tracking, and reveals distinct epidemiologic, genetic, and biological associations for those at the highest risk.

Published
2022

11. Abstract 14249: Sex and Gene Based Differences in Age Related Penetrance of Dilated and Arrhythmogenic Cardiomyopathy

Author

Bart, Nicole K, Stroeks, Sophie, Khan, Sadiya S, Reza, Nosheen, Olivotto, Iacopo, Vissing, Christoffer, Sinnette, Corine, Owens, Anjali T, Fornaro, Alessandra, Mestroni, Luisa, Taylor, Matthew, Helms, Adam S, Prasad, Sanjay K, Saberi, Sara, Shore, Supriya, Verdonschot, Job, sinagra, Gianfranco, Merlo, Marco, Gigli, Marta, Wilsbacher, Lisa D, Heymans, Stephane, Wheeler, Matthew, Ashley, Euan A, Dal Ferro, Matteo, Paldino, Alessia, Day, Sharlene, de Feria, Alejandro, Stevenson, Lynne W, Ho, Carolyn, Claggett, Brian, Ware, James S, Parikh, Victoria N, Tayal, Upasana, and Lakdawala, Neal K

Published
2023
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13. Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure

Author

Cordero, Pablo, Parikh, Victoria N, Chin, Elizabeth T, Erbilgin, Ayca, Gloudemans, Michael J, Shang, Ching, Huang, Yong, Chang, Alex C, Smith, Kevin S, Dewey, Frederick, Zaleta, Kathia, Morley, Michael, Brandimarto, Jeff, Glazer, Nicole, Waggott, Daryl, Pavlovic, Aleksandra, Zhao, Mingming, Moravec, Christine S, Tang, WH Wilson, Skreen, Jamie, Malloy, Christine, Hannenhalli, Sridhar, Li, Hongzhe, Ritter, Scott, Li, Mingyao, Bernstein, Daniel, Connolly, Andrew, Hakonarson, Hakon, Lusis, Aldons J, Margulies, Kenneth B, Depaoli-Roach, Anna A, Montgomery, Stephen B, Wheeler, Matthew T, Cappola, Thomas, and Ashley, Euan A

Subjects
Biological Sciences, Genetics, Human Genome, Biotechnology, Heart Disease, Cardiovascular, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Animals, Benzeneacetamides, Cells, Cultured, Datasets as Topic, Disease Models, Animal, Female, Gene Expression Profiling, Gene Expression Regulation, Gene Knockdown Techniques, Gene Regulatory Networks, Genome-Wide Association Study, Heart Failure, Humans, Male, Metabolic Networks and Pathways, Mice, Mice, Knockout, Middle Aged, Myocytes, Cardiac, Phosphoprotein Phosphatases, Primary Cell Culture, Pyridines, Quantitative Trait Loci, Rats, Rats, Sprague-Dawley, Sequence Analysis, RNA
Abstract

Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and obtain genome-wide genotyping and gene expression measurements for a subset of 313. We build failing and non-failing cardiac regulatory gene networks, revealing important regulators and cardiac expression quantitative trait loci (eQTLs). PPP1R3A emerges as a regulator whose network connectivity changes significantly between health and disease. RNA sequencing after PPP1R3A knockdown validates network-based predictions, and highlights metabolic pathway regulation associated with increased cardiomyocyte size and perturbed respiratory metabolism. Mice lacking PPP1R3A are protected against pressure-overload heart failure. We present a global gene interaction map of the human heart failure transition, identify previously unreported cardiac eQTLs, and demonstrate the discovery potential of disease-specific networks through the description of PPP1R3A as a central regulator in heart failure.

Published
2019

14. Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry

Author

Abou Alaiwi, Sarah, Roston, Thomas M., Marstrand, Peter, Claggett, Brian Lee, Parikh, Victoria N., Helms, Adam S., Ingles, Jodie, Lampert, Rachel, Lakdawala, Neal K., Michels, Michelle, Owens, Anjali T., Rossano, Joseph W., Saberi, Sara, Abrams, Dominic J., Ashley, Euan A., Semsarian, Christopher, Stendahl, John C., Ware, James S., Miller, Erin, Ryan, Thomas D., Russell, Mark W., Day, Sharlene M., Olivotto, Iacopo, Vissing, Christoffer R., and Ho, Carolyn Y.

Published
2023
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15. The genetic architecture of Plakophilin 2 cardiomyopathy

Author

Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., and Parikh, Victoria N.

Published
2021
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16. A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers

Author

Electrofysiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Groep Van Tintelen, Child Health, Team Medisch, Carrick, Richard T, Gasperetti, Alessio, Protonotarios, Alexandros, Murray, Brittney, Laredo, Mikael, van der Schaaf, Iris, Dooijes, Dennis, Syrris, Petros, Cannie, Douglas, Tichnell, Crystal, Gilotra, Nisha A, Cappelletto, Chiara, Medo, Kristen, Saguner, Ardan M, Duru, Firat, Hylind, Robyn J, Abrams, Dominic J, Lakdawala, Neal K, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Compagnucci, Paolo, Casella, Michela, Conte, Giulio, Tondo, Claudio, Yazdani, Momina, Ware, James S, Prasad, Sanjay K, Calò, Leonardo, Smith, Eric D, Helms, Adam S, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Peretto, Giovanni, Peters, Stacey, Horton, Ari, Yao, Jessica, Schulze-Bahr, Eric, Dittman, Sven, Carruth, Eric D, Young, Katelyn, Qureshi, Maria, Haggerty, Chris, Parikh, Victoria N, Taylor, Matthew, Mestroni, Luisa, Wilde, Arthur, Sinagra, Gianfranco, Merlo, Marco, Gandjbakhch, Estelle, van Tintelen, J Peter, Te Riele, Anneline S J M, Elliot, Perry, Calkins, Hugh, Wu, Katherine C, James, Cynthia A, Electrofysiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Groep Van Tintelen, Child Health, Team Medisch, Carrick, Richard T, Gasperetti, Alessio, Protonotarios, Alexandros, Murray, Brittney, Laredo, Mikael, van der Schaaf, Iris, Dooijes, Dennis, Syrris, Petros, Cannie, Douglas, Tichnell, Crystal, Gilotra, Nisha A, Cappelletto, Chiara, Medo, Kristen, Saguner, Ardan M, Duru, Firat, Hylind, Robyn J, Abrams, Dominic J, Lakdawala, Neal K, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Compagnucci, Paolo, Casella, Michela, Conte, Giulio, Tondo, Claudio, Yazdani, Momina, Ware, James S, Prasad, Sanjay K, Calò, Leonardo, Smith, Eric D, Helms, Adam S, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Peretto, Giovanni, Peters, Stacey, Horton, Ari, Yao, Jessica, Schulze-Bahr, Eric, Dittman, Sven, Carruth, Eric D, Young, Katelyn, Qureshi, Maria, Haggerty, Chris, Parikh, Victoria N, Taylor, Matthew, Mestroni, Luisa, Wilde, Arthur, Sinagra, Gianfranco, Merlo, Marco, Gandjbakhch, Estelle, van Tintelen, J Peter, Te Riele, Anneline S J M, Elliot, Perry, Calkins, Hugh, Wu, Katherine C, and James, Cynthia A

Published
2024

18. Abstract 12104: Pediatric Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

Author

Abou Alaiwi, Sarah, Roston, Thomas M, Vissing, Christoffer, Marstrand, Peter, Claggett, Brian, Nauffal, Victor, Parikh, Victoria N, Helms, Adam S, Ingles, Jodie, Jacoby, Daniel L, Lakdawala, Neal K, Michels, Michelle, Owens, Anjali T, Ashley, Euan A, Pereira, Alexandre, Rossano, Joseph, Saberi, Sara, Semsarian, Christopher, Ware, James S, Miller, Erin, Wittekind, Samuel, Russell, Mark W, Day, Sharlene, olivotto, iacopo, and Ho, Carolyn

Published
2022
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20. Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.

Author

Zhang, Xiaolei, Theotokis, Pantazis I., Li, Nicholas, Ashley, Euan, Colan, Steven D., Day, Sharlene M., Helms, Adam, Ho, Carolyn Y., Ingles, Jodie, Jacoby, Daniel, Lakdawala, Neal K., Michels, Michelle, Olivotto, Iacopo, Owens, Anjali, Parikh, Victoria N., Pereira, Alexandre C., Rossano, Joseph, Saberi, Sara, Semsarian, Chris, and Wittekind, Samuel

Subjects
AMINO acid separation, MISSENSE mutation, PROTEIN fractionation, PROTEIN domains, GENETIC variation
Abstract

Background: One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale human populations to uncover genes or genomic regions that show a depletion of natural variation, indicative of selection pressure. We refer to this as "genetic constraint". Although existing genetic constraint metrics have been demonstrated to be successful in prioritising genes or genomic regions associated with diseases, their spatial resolution is limited in distinguishing pathogenic variants from benign variants within genes. Methods: We aim to identify missense variants that are significantly depleted in the general human population. Given the size of currently available human populations with exome or genome sequencing data, it is not possible to directly detect depletion of individual missense variants, since the average expected number of observations of a variant at most positions is less than one. We instead focus on protein domains, grouping homologous variants with similar functional impacts to examine the depletion of natural variations within these comparable sets. To accomplish this, we develop the Homologous Missense Constraint (HMC) score. We utilise the Genome Aggregation Database (gnomAD) 125 K exome sequencing data and evaluate genetic constraint at quasi amino-acid resolution by combining signals across protein homologues. Results: We identify one million possible missense variants under strong negative selection within protein domains. Though our approach annotates only protein domains, it nonetheless allows us to assess 22% of the exome confidently. It precisely distinguishes pathogenic variants from benign variants for both early-onset and adult-onset disorders. It outperforms existing constraint metrics and pathogenicity meta-predictors in prioritising de novo mutations from probands with developmental disorders (DD). It is also methodologically independent of these, adding power to predict variant pathogenicity when used in combination. We demonstrate utility for gene discovery by identifying seven genes newly significantly associated with DD that could act through an altered-function mechanism. Conclusions: Grouping variants of comparable functional impacts is effective in evaluating their genetic constraint. HMC is a novel and accurate predictor of missense consequence for improved variant interpretation. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy

Author

Krysov, Vikki A., primary, Wilson, Rachel H., additional, Ten, Nicholas S., additional, Youlton, Nathan, additional, De Jong, Hannah N., additional, Sutton, Shirley, additional, Huang, Yong, additional, Reuter, Chloe M., additional, Grove, Megan E., additional, Wheeler, Matthew T., additional, Ashley, Euan A., additional, and Parikh, Victoria N., additional

Published
2024
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22. Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension

Author

Tai, Yi-Yin, primary, Yu, Qiujun, additional, Tang, Ying, additional, Sun, Wei, additional, Kelly, Neil J., additional, Okawa, Satoshi, additional, Zhao, Jingsi, additional, Schwantes-An, Tae-Hwi, additional, Lacoux, Caroline, additional, Torrino, Stephanie, additional, Al Aaraj, Yassmin, additional, El Khoury, Wadih, additional, Negi, Vinny, additional, Liu, Mingjun, additional, Corey, Catherine G., additional, Belmonte, Frances, additional, Vargas, Sara O., additional, Schwartz, Brian, additional, Bhat, Bal, additional, Chau, B. Nelson, additional, Karnes, Jason H., additional, Satoh, Taijyu, additional, Barndt, Robert J., additional, Wu, Haodi, additional, Parikh, Victoria N., additional, Wang, Jianrong, additional, Zhang, Yingze, additional, McNamara, Dennis, additional, Li, Gang, additional, Speyer, Gil, additional, Wang, Bing, additional, Shiva, Sruti, additional, Kaufman, Brett, additional, Kim, Seungchan, additional, Gomez, Delphine, additional, Mari, Bernard, additional, Cho, Michael H., additional, Boueiz, Adel, additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Trembath, Richard C., additional, Sitbon, Olivier, additional, Humbert, Marc, additional, Graf, Stefan, additional, Morrell, Nicholas W., additional, Rhodes, Christopher J., additional, Wilkins, Martin R., additional, Nouraie, Mehdi, additional, Nichols, William C., additional, Desai, Ankit A., additional, Bertero, Thomas, additional, and Chan, Stephen Y., additional

Published
2024
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23. Vascular stiffness mechanoactivates YAP/TAZ-dependent glutaminolysis to drive pulmonary hypertension

Author

Bertero, Thomas, Oldham, William M, Cottrill, Katherine A, Pisano, Sabrina, Vanderpool, Rebecca R, Yu, Qiujun, Zhao, Jingsi, Tai, Yiyin, Tang, Ying, Zhang, Ying-Yi, Rehman, Sofiya, Sugahara, Masataka, Qi, Zhi, Gorcsan, John, Vargas, Sara O, Saggar, Rajan, Saggar, Rajeev, Wallace, W Dean, Ross, David J, Haley, Kathleen J, Waxman, Aaron B, Parikh, Victoria N, De Marco, Teresa, Hsue, Priscilla Y, Morris, Alison, Simon, Marc A, Norris, Karen A, Gaggioli, Cedric, Loscalzo, Joseph, Fessel, Joshua, and Chan, Stephen Y

Subjects
Lung, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Aged, Animals, Child, Collagen, Endothelial Cells, Extracellular Matrix, Female, Glutamic Acid, Humans, Hypertension, Pulmonary, Infant, Intracellular Signaling Peptides and Proteins, Male, Mechanotransduction, Cellular, Middle Aged, Myocytes, Smooth Muscle, Phosphoproteins, Rats, Rats, Sprague-Dawley, Trans-Activators, Transcription Factors, Transcriptional Coactivator with PDZ-Binding Motif Proteins, Vascular Stiffness, Young Adult, Medical and Health Sciences, Immunology
Abstract

Dysregulation of vascular stiffness and cellular metabolism occurs early in pulmonary hypertension (PH). However, the mechanisms by which biophysical properties of the vascular extracellular matrix (ECM) relate to metabolic processes important in PH remain undefined. In this work, we examined cultured pulmonary vascular cells and various types of PH-diseased lung tissue and determined that ECM stiffening resulted in mechanoactivation of the transcriptional coactivators YAP and TAZ (WWTR1). YAP/TAZ activation modulated metabolic enzymes, including glutaminase (GLS1), to coordinate glutaminolysis and glycolysis. Glutaminolysis, an anaplerotic pathway, replenished aspartate for anabolic biosynthesis, which was critical for sustaining proliferation and migration within stiff ECM. In vitro, GLS1 inhibition blocked aspartate production and reprogrammed cellular proliferation pathways, while application of aspartate restored proliferation. In the monocrotaline rat model of PH, pharmacologic modulation of pulmonary vascular stiffness and YAP-dependent mechanotransduction altered glutaminolysis, pulmonary vascular proliferation, and manifestations of PH. Additionally, pharmacologic targeting of GLS1 in this model ameliorated disease progression. Notably, evaluation of simian immunodeficiency virus-infected nonhuman primates and HIV-infected subjects revealed a correlation between YAP/TAZ-GLS activation and PH. These results indicate that ECM stiffening sustains vascular cell growth and migration through YAP/TAZ-dependent glutaminolysis and anaplerosis, and thereby link mechanical stimuli to dysregulated vascular metabolism. Furthermore, this study identifies potential metabolic drug targets for therapeutic development in PH.

Published
2016

24. Brief Report

Author

Parikh, Victoria N, Park, Joseph, Nikolic, Ivana, Channick, Richard, Yu, Paul B, De Marco, Teresa, Hsue, Priscilla Y, and Chan, Stephen Y

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, Immunology, Infectious Diseases, Genetics, Liver Disease, Hepatitis, Clinical Research, Digestive Diseases, Hepatitis - C, Sexually Transmitted Infections, Chronic Liver Disease and Cirrhosis, HIV/AIDS, Biotechnology, Emerging Infectious Diseases, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Adult, Female, HIV Infections, Hepatitis C, Humans, Hypertension, Pulmonary, Male, MicroRNAs, Middle Aged, microRNA, HIV, HCV coinfection, HIV-PAH, Clinical Sciences, Public Health and Health Services, Virology, Clinical sciences, Epidemiology, Public health
Abstract

Dysregulation of microRNA-21 (miR-21) is independently associated with HIV infection, pulmonary arterial hypertension (PAH), and hepatitis C virus (HCV) infection. To assess the expression of miR-21 in these overlapping comorbidities, we measured plasma miR-21 in HIV with and without PAH and then stratified by concomitant HCV infection. MiR-21 was increased in HIV and HIV-PAH versus uninfected subjects, but it did not differ between these groups. HIV/HCV coinfection correlated with even higher miR-21 levels within the HIV-infected population. These data reveal specific regulation of plasma miR-21 in HIV, HIV/HCV coinfection, and PAH and suggest that miR-21 may integrate complex disease-specific signaling in the setting of HIV infection.

Published
2015

25. Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

Author

Ma, Joanne G, primary, O'Neill, Matthew James, additional, Richardson, Ebony, additional, Thomson, Kate, additional, Ingles, Jodie, additional, Muhammad, Ayesha, additional, Solus, Joseph F, additional, Davogustto, Giovanni E, additional, Anderson, Katherine C, additional, Shoemaker, Moore Ben, additional, Stergachis, Andrew B, additional, Floyd, Brendan James, additional, Dunn, Kyla, additional, Parikh, Victoria N, additional, Chubb, Henry, additional, Perrin, Mark, additional, Roden, Dan M, additional, Vandenberg, Jamie I, additional, Ng, Chai Ann, additional, and Glazer, Andrew M, additional

Published
2023
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26. Genetic architecture of cardiac dynamic flow volumes

Author

Gomes, Bruna, primary, Singh, Aditya, additional, O’Sullivan, Jack W., additional, Schnurr, Theresia M., additional, Goddard, Pagé C., additional, Loong, Shaun, additional, Amar, David, additional, Hughes, J. Weston, additional, Kostur, Mykhailo, additional, Haddad, Francois, additional, Salerno, Michael, additional, Foo, Roger, additional, Montgomery, Stephen B., additional, Parikh, Victoria N., additional, Meder, Benjamin, additional, and Ashley, Euan A., additional

Published
2023
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27. Epistasis regulates genetic control of cardiac hypertrophy

Author

Wang, Qianru, primary, Tang, Tiffany M., additional, Youlton, Nathan, additional, Weldy, Chad S., additional, Kenney, Ana M., additional, Ronen, Omer, additional, Hughes, J. Weston, additional, Chin, Elizabeth T., additional, Sutton, Shirley C., additional, Agarwal, Abhineet, additional, Li, Xiao, additional, Behr, Merle, additional, Kumbier, Karl, additional, Moravec, Christine S., additional, Tang, W. H. Wilson, additional, Margulies, Kenneth B., additional, Cappola, Thomas P., additional, Butte, Atul J., additional, Arnaout, Rima A., additional, Brown, James B., additional, Priest, James R., additional, Parikh, Victoria N., additional, Yu, Bin, additional, and Ashley, Euan A., additional

Published
2023
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29. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Cannie, Douglas E, primary, Syrris, Petros, additional, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Pruny, Jean-François, additional, Ditaranto, Raffaello, additional, Martinez-Veira, Cristina, additional, Larrañaga-Moreira, Jose M, additional, Medo, Kristen, additional, Bermúdez-Jiménez, Francisco José, additional, Ben Yaou, Rabah, additional, Leturcq, France, additional, Mezcua, Ainhoa Robles, additional, Marini-Bettolo, Chiara, additional, Cabrera, Eva, additional, Reuter, Chloe, additional, Limeres Freire, Javier, additional, Rodríguez-Palomares, José F, additional, Mestroni, Luisa, additional, Taylor, Matthew R G, additional, Parikh, Victoria N, additional, Ashley, Euan A, additional, Barriales-Villa, Roberto, additional, Jiménez-Jáimez, Juan, additional, Garcia-Pavia, Pablo, additional, Charron, Philippe, additional, Biagini, Elena, additional, García Pinilla, José M, additional, Bourke, John, additional, Savvatis, Konstantinos, additional, Wahbi, Karim, additional, and Elliott, Perry M, additional

Published
2023
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32. Patient-Specific Induced Pluripotent Stem Cells Implicate Intrinsic Impaired Contractility in Hypoplastic Left Heart Syndrome

Author

Paige, Sharon L., Galdos, Francisco X., Lee, Soah, Chin, Elizabeth T., Ranjbarvaziri, Sara, Feyen, Dries A.M., Darsha, Adrija K., Xu, Sidra, Ryan, Julia A., Beck, Aimee L., Qureshi, M. Yasir, Miao, Yifei, Gu, Mingxia, Bernstein, Daniel, Nelson, Timothy J., Mercola, Mark, Rabinovitch, Marlene, Ashley, Euan A., Parikh, Victoria N., and Wu, Sean M.

Published
2020
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33. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, Elliott, Perry M., Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, and Elliott, Perry M.

Abstract

[Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3–109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2–60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). Conclusions Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

Published
2023

34. Left Ventricular Systolic Dysfunction in Patients Diagnosed with Hypertrophic Cardiomyopathy during Childhood:Insights from the SHaRe Registry

Author

Alaiwi, Sarah Abou, Roston, Thomas M., Marstrand, Peter, Claggett, Brian Lee, Parikh, Victoria N., Helms, Adam S., Ingles, Jodie, Lampert, Rachel, Lakdawala, Neal K., Michels, Michelle, Owens, Anjali T., Rossano, Joseph W., Saberi, Sara, Abrams, Dominic J., Ashley, Euan A., Semsarian, Christopher, Stendahl, John C., Ware, James S., Miller, Erin, Ryan, Thomas D., Russell, Mark W., Day, Sharlene M., Olivotto, Iacopo, Vissing, Christoffer R., Ho, Carolyn Y., Alaiwi, Sarah Abou, Roston, Thomas M., Marstrand, Peter, Claggett, Brian Lee, Parikh, Victoria N., Helms, Adam S., Ingles, Jodie, Lampert, Rachel, Lakdawala, Neal K., Michels, Michelle, Owens, Anjali T., Rossano, Joseph W., Saberi, Sara, Abrams, Dominic J., Ashley, Euan A., Semsarian, Christopher, Stendahl, John C., Ware, James S., Miller, Erin, Ryan, Thomas D., Russell, Mark W., Day, Sharlene M., Olivotto, Iacopo, Vissing, Christoffer R., and Ho, Carolyn Y.

Abstract

BACKGROUND: The development of left ventricular systolic dysfunction (LVSD) in hypertrophic cardiomyopathy (HCM) is rare but serious and associated with poor outcomes in adults. Little is known about the prevalence, predictors, and prognosis of LVSD in patients diagnosed with HCM as children. METHODS:Data from patients with HCM in the international, multicenter SHaRe (Sarcomeric Human Cardiomyopathy Registry) were analyzed. LVSD was defined as left ventricular ejection fraction <50% on echocardiographic reports. Prognosis was assessed by a composite of death, cardiac transplantation, and left ventricular assist device implantation. Predictors of developing incident LVSD and subsequent prognosis with LVSD were assessed using Cox proportional hazards models. RESULTS: We studied 1010 patients diagnosed with HCM during childhood (<18 years of age) and compared them with 6741 patients with HCM diagnosed as adults. In the pediatric HCM cohort, median age at HCM diagnosis was 12.7 years (interquartile range, 8.0-15.3), and 393 (36%) patients were female. At initial SHaRe site evaluation, 56 (5.5%) patients with childhood-diagnosed HCM had prevalent LVSD, and 92 (9.1%) developed incident LVSD during a median follow-up of 5.5 years. Overall LVSD prevalence was 14.7% compared with 8.7% in patients with adult-diagnosed HCM. Median age at incident LVSD was 32.6 years (interquartile range, 21.3-41.6) for the pediatric cohort and 57.2 years (interquartile range, 47.3-66.5) for the adult cohort. Predictors of developing incident LVSD in childhood-diagnosed HCM included age <12 years at HCM diagnosis (hazard ratio [HR], 1.72 [CI, 1.13-2.62), male sex (HR, 3.1 [CI, 1.88-5.2), carrying a pathogenic sarcomere variant (HR, 2.19 [CI, 1.08-4.4]), previous septal reduction therapy (HR, 2.34 [CI, 1.42-3.9]), and lower initial left ventricular ejection fraction (HR, 1.53 [CI, 1.38-1.69] per 5% decrease). Forty percent of pa

Published
2023

35. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Abstract

Background: Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSPtv cardiomyopathy. Methods: Individuals with DSPtv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers. Clinical data and family history information were collected. Event-free survival from ventricular arrhythmia was assessed. Variant location was compared between cases and controls, and literature review of reported DSPtv performed. Results: There were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a DSPtv, of which 146 were considered clinically affected. Ventricular arrhythmia (sudden cardiac arrest, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) occurred in 56 (33%) individuals. DSPtv location and proband status were independent risk factors for ventricular arrhythmia. Further, gene region was important with variants in cases (cohort n=98; Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%]; P<0.0001). Conclusions: In the largest series of individuals with DSPtv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management.

Published
2023

36. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Published
2023

37. Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation

Author

Zaleta-Rivera, Kathia, Dainis, Alexandra, Ribeiro, Alexandre J.S., Cordero, Pablo, Rubio, Gabriel, Shang, Ching, Liu, Jing, Finsterbach, Thomas, Parikh, Victoria N., Sutton, Shirley, Seo, Kinya, Sinha, Nikita, Jain, Nikhil, Huang, Yong, Hajjar, Roger J., Kay, Mark A., Szczesna-Cordary, Danuta, Pruitt, Beth L., Wheeler, Matthew T., and Ashley, Euan A.

Published
2019
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38. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

Author

Parikh, Victoria N., Caleshu, Colleen, Reuter, Chloe, Lazzeroni, Laura C., Ingles, Jodie, Garcia, John, McCaleb, Kristen, Adesiyun, Tolulope, Sedaghat-Hamedani, Farbod, Kumar, Saurabh, Graw, Sharon, Gigli, Marta, Stolfo, Davide, Dal Ferro, Matteo, Ing, Alexander Y., Nussbaum, Robert, Funke, Birgit, Wheeler, Matthew T., Hershberger, Ray E., Cook, Stuart, Steinmetz, Lars M., Lakdawala, Neal K., Taylor, Matthew R.G., Mestroni, Luisa, Merlo, Marco, Sinagra, Gianfranco, Semsarian, Christopher, Meder, Benjamin, Judge, Daniel P., and Ashley, Euan

Published
2019
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42. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant

Author

Hoorntje, Edgar T., primary, Burns, Charlotte, additional, Marsili, Luisa, additional, Corden, Ben, additional, Parikh, Victoria N., additional, te Meerman, Gerard J., additional, Gray, Belinda, additional, Adiyaman, Ahmet, additional, Bagnall, Richard D., additional, Barge-Schaapveld, Daniela Q.C.M., additional, van den Berg, Maarten P., additional, Bootsma, Marianne, additional, Bosman, Laurens P., additional, Correnti, Gemma, additional, Duflou, Johan, additional, Eppinga, Ruben N., additional, Fatkin, Diane, additional, Fietz, Michael, additional, Haan, Eric, additional, Jongbloed, Jan D.H., additional, Hauer, Arnaud D., additional, Lam, Lien, additional, van Lint, Freyja H.M., additional, Lota, Amrit, additional, Marcelis, Carlo, additional, McCarthy, Hugh J., additional, van Mil, Anneke M., additional, Oldenburg, Rogier A., additional, Pachter, Nicholas, additional, Planken, R. Nils, additional, Reuter, Chloe, additional, Semsarian, Christopher, additional, van der Smagt, Jasper J., additional, Thompson, Tina, additional, Vohra, Jitendra, additional, Volders, Paul G.A., additional, van Waning, Jaap I., additional, Whiffin, Nicola, additional, van den Wijngaard, Arthur, additional, Amin, Ahmad S., additional, Wilde, Arthur A.M., additional, van Woerden, Gijs, additional, Yeates, Laura, additional, Zentner, Dominica, additional, Ashley, Euan A., additional, Wheeler, Matthew T., additional, Ware, James S., additional, van Tintelen, J. Peter, additional, and Ingles, Jodie, additional

Published
2023
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43. Genetic architecture of cardiac dynamic flow volumes

Author

Gomes, Bruna, primary, Singh, Aditya, additional, O’Sullivan, Jack W, additional, Amar, David, additional, Kostur, Mykhailo, additional, Haddad, Francois, additional, Salerno, Michael, additional, Parikh, Victoria N., additional, Meder, Benjamin, additional, and Ashley, Euan A., additional

Published
2022
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44. Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy

Author

De Jong, Hannah N., primary, Dewey, Frederick E., additional, Cordero, Pablo, additional, Victorio, Rachelle A., additional, Kirillova, Anna, additional, Huang, Yong, additional, Madhvani, Roshni, additional, Seo, Kinya, additional, Werdich, Andreas A., additional, Lan, Feng, additional, Orcholski, Mark, additional, Liu, W. Robert, additional, Erbilgin, Ayca, additional, Wheeler, Matthew T., additional, Chen, Rui, additional, Pan, Stephen, additional, Kim, Young M., additional, Bommakanti, Krishna, additional, Marcou, Cherisse A., additional, Bos, J. Martijn, additional, Haddad, Francois, additional, Ackerman, Michael, additional, Vasan, Ramachandran S., additional, MacRae, Calum, additional, Wu, Joseph C., additional, de Jesus Perez, Vinicio, additional, Snyder, Michael, additional, Parikh, Victoria N., additional, and Ashley, Euan A., additional

Published
2022
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48. Abstract 11792: Low Penetrance Sarcomere Variants Indicate an Additive Genetic Risk Model in Hypertrophic Cardiomyopathy

Author

Smith, Eric, primary, Elder, Brynn, additional, Chen, Gabriela, additional, Tsan, Yao-chang, additional, Stendahl, John, additional, Ingles, Jodie, additional, Parikh, Victoria N, additional, Wittekind, Samuel, additional, Colan, Steven, additional, Lakdawala, Neal K, additional, Owens, Anjali T, additional, Jacoby, Daniel L, additional, Day, Sharlene, additional, Semsarian, Christopher, additional, olivotto, iacopo, additional, Ho, Carolyn, additional, Russell, Mark W, additional, Saberi, Sara, additional, Ware, James S, additional, and Helms, Adam S, additional

Published
2021
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49. Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants

Author

Gigli, Marta, primary, Stolfo, Davide, additional, Graw, Sharon L., additional, Merlo, Marco, additional, Gregorio, Caterina, additional, Nee Chen, Suet, additional, Dal Ferro, Matteo, additional, PaldinoMD, Alessia, additional, De Angelis, Giulia, additional, Brun, Francesca, additional, Jirikowic, Jean, additional, Salcedo, Ernesto E., additional, Turja, Sylvia, additional, Fatkin, Diane, additional, Johnson, Renee, additional, van Tintelen, J. Peter, additional, Te Riele, Anneline S.J.M., additional, Wilde, Arthur A.M., additional, Lakdawala, Neal K., additional, Picard, Kermshlise, additional, Miani, Daniela, additional, Muser, Daniele, additional, Maria Severini, Giovanni, additional, Calkins, Hugh, additional, James, Cynthia A., additional, Murray, Brittney, additional, Tichnell, Crystal, additional, Parikh, Victoria N., additional, Ashley, Euan A., additional, Reuter, Chloe, additional, Song, Jiangping, additional, Judge, Daniel P., additional, McKenna, William J., additional, Taylor, Matthew R.G., additional, Sinagra, Gianfranco, additional, and Mestroni, Luisa, additional

Published
2021
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50. Abstract 11709: The Impact of Hypertension on Disease Expression in Hypertrophic Cardiomyopathy

Author

Roston, Thomas M, primary, olivotto, iacopo, additional, Day, Sharlene, additional, Parikh, Victoria N, additional, Michels, Michelle, additional, Ingles, Jodie, additional, Semsarian, Christopher, additional, Jacoby, Daniel L, additional, Colan, Steven D, additional, Rossano, Joseph, additional, Wittekind, Samuel, additional, Ware, James S, additional, Zhang, Lin, additional, Saberi, Sara, additional, Helms, Adam S, additional, and Ho, Carolyn, additional

Published
2021
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