Genetic advances in sarcomeric cardiomyopathies: state of the art

por Ho, Carolyn Y., Charron, Philippe, Richard, Pascale, Girolami, Francesca, Van Spaendonck-Zwarts, Karin Y., Pinto, Yigal
Publicado 2015

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

por Adalsteinsdottir, Berglind, Burke, Michael, Maron, Barry J, Danielsen, Ragnar, Lopez, Begoña, Diez, Javier, Jarolim, Petr, Seidman, Jonathan, Seidman, Christine E., Ho, Carolyn Y, Gunnarsson, Gunnar Th
Publicado 2020

Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry

por Canepa, Marco, Fumagalli, Carlo, Tini, Giacomo, Vincent-Tompkins, Justin, Day, Sharlene M., Ashley, Euan A., Mazzarotto, Francesco, Ware, James S., Michels, Michelle, Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo
Publicado 2020

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

por Coppini, Raffaele, Ho, Carolyn Y., Ashley, Euan, Day, Sharlene, Ferrantini, Cecilia, Girolami, Francesca, Tomberli, Benedetta, Bardi, Sara, Torricelli, Francesca, Cecchi, Franco, Mugelli, Alessandro, Poggesi, Corrado, Tardiff, Jil, Olivotto, Iacopo
Publicado 2014

Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy

por Nijenkamp, Louise L. A. M., Bollen, Ilse A. E., Niessen, Hans W. M., dos Remedios, Cris G., Michels, Michelle, Poggesi, Corrado, Ho, Carolyn Y., Kuster, Diederik W. D., van der Velden, Jolanda
Publicado 2020

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy

por Aung, Nay, Lopes, Luis R., van Duijvenboden, Stefan, Harper, Andrew R., Goel, Anuj, Grace, Christopher, Ho, Carolyn Y., Weintraub, William S., Kramer, Christopher M., Neubauer, Stefan, Watkins, Hugh C., Petersen, Steffen E., Munroe, Patricia B.
Publicado 2023

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry

por Marstrand, Peter, Han, Larry, Day, Sharlene M., Olivotto, Iacopo, Ashley, Euan A., Michels, Michelle, Pereira, Alexandre C., Wittekind, Samuel G., Helms, Adam, Saberi, Sara, Jacoby, Daniel, Ware, James S., Colan, Steven D., Semsarian, Christopher, Ingles, Jodie, Lakdawala, Neal K., Ho, Carolyn Y.
Publicado 2020

The embryological basis of subclinical hypertrophic cardiomyopathy

por Captur, Gabriella, Ho, Carolyn Y., Schlossarek, Saskia, Kerwin, Janet, Mirabel, Mariana, Wilson, Robert, Rosmini, Stefania, Obianyo, Chinwe, Reant, Patricia, Bassett, Paul, Cook, Andrew C., Lindsay, Susan, McKenna, William J., Mills, Kevin, Elliott, Perry M., Mohun, Timothy J., Carrier, Lucie, Moon, James C.
Publicado 2016

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy

por Marston, Nicholas A, Han, Larry, Olivotto, Iacopo, Day, Sharlene M, Ashley, Euan A, Michels, Michelle, Pereira, Alexandre C, Ingles, Jodie, Semsarian, Christopher, Jacoby, Daniel, Colan, Steven D, Rossano, Joseph W, Wittekind, Samuel G, Ware, James S, Saberi, Sara, Helms, Adam S, Ho, Carolyn Y
Publicado 2021

Advanced assessment of cardiac morphology and prediction of gene carriage by CMR in hypertrophic cardiomyopathy - the HCMNet/UCL collaboration

por Captur, Gaby, Mohun, Timothy J, Finocchiaro, Gherardo, Wilson, Robert, Levine, Jonathan, Conner, Lauren, Lopes, Luis, Patel, Vimal, Sado, Daniel, Li, Chunming, Bassett, Paul, Herrey, Anna S, Tome Esteban, Maite T, McKenna, William J, Seidman, Christine E, Muthurangu, Vivek, Bluemke, David, Ho, Carolyn Y, Elliott, Perry M, Moon, James
Publicado 2014

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

por Harris, Stephanie, Cirino, Allison L., Carr, Christina W., Tafessu, Hiwot M., Parmar, Siddharth, Greenberg, Jeffrey O., Szent‐Gyorgyi, Lara E., Ghazinouri, Roya, Glowny, Michelle G., McNeil, Kara, Kaynor, Efthalia F., Neumann, Catherine, Seidman, Christine E., MacRae, Calum A., Ho, Carolyn Y., Lakdawala, Neal K.
Publicado 2019

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

por Thompson, Andrea D., Helms, Adam S., Kannan, Anamika, Yob, Jaime, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Mazzarotto, Francesco, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
Publicado 2021

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

por Ho, Carolyn Y., Day, Sharlene M., Ashley, Euan A., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Cirino, Allison L., Fox, Jonathan C., Lakdawala, Neal K., Ware, James S., Caleshu, Colleen A., Helms, Adam S., Colan, Steven D., Girolami, Francesca, Cecchi, Franco, Seidman, Christine E., Sajeev, Gautam, Signorovitch, James, Green, Eric M., Olivotto, Iacopo
Publicado 2018

Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy

por Ho, Jennifer E, Shi, Ling, Day, Sharlene M, Colan, Steven D, Russell, Mark W, Towbin, Jeffrey A, Sherrid, Mark V, Canter, Charles E, Jefferies, John Lynn, Murphy, Anne, Taylor, Matthew, Mestroni, Luisa, Cirino, Allison L, Sleeper, Lynn A, Jarolim, Peter, Lopez, Begoña, Gonzalez, Arantxa, Diez, Javier, Orav, E John, Ho, Carolyn Y
Publicado 2017

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

por Vassy, Jason L, Lautenbach, Denise M, McLaughlin, Heather M, Kong, Sek Won, Christensen, Kurt D, Krier, Joel, Kohane, Isaac S, Feuerman, Lindsay Z, Blumenthal-Barby, Jennifer, Roberts, J Scott, Lehmann, Lisa Soleymani, Ho, Carolyn Y, Ubel, Peter A, MacRae, Calum A, Seidman, Christine E, Murray, Michael F, McGuire, Amy L, Rehm, Heidi L, Green, Robert C
Publicado 2014

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

por Helms, Adam S., Thompson, Andrea D., Glazier, Amelia A., Hafeez, Neha, Kabani, Samat, Rodriguez, Juliani, Yob, Jaime M., Woolcock, Helen, Mazzarotto, Francesco, Lakdawala, Neal K., Wittekind, Samuel G., Pereira, Alexandre C., Jacoby, Daniel L., Colan, Steven D., Ashley, Euan A., Saberi, Sara, Ware, James S., Ingles, Jodie, Semsarian, Christopher, Michels, Michelle, Olivotto, Iacopo, Ho, Carolyn Y., Day, Sharlene M.
Publicado 2020

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

por Norrish, Gabrielle, Qu, Chen, Field, Ella, Cervi, Elena, Khraiche, Diala, Klaassen, Sabine, Ojala, Tiina H, Sinagra, Gianfranco, Yamazawa, Hirokuni, Marrone, Chiara, Popoiu, Anca, Centeno, Fernando, Schouvey, Sylvie, Olivotto, Iacopo, Day, Sharlene M, Colan, Steve, Rossano, Joseph, Wittekind, Samuel G, Saberi, Sara, Russell, Mark, Helms, Adam, Ingles, Jodie, Semsarian, Christopher, Elliott, Perry M, Ho, Carolyn Y, Omar, Rumana Z, Kaski, Juan P
Publicado 2021

Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model

por Axelsson Raja, Anna, Wakimoto, Hiroko, DeLaughter, Daniel M., Reichart, Daniel, Gorham, Joshua, Conner, David A., Lun, Mingyue, Probst, Clemens K., Sakai, Norihiko, Knipe, Rachel S., Montesi, Sydney B., Shea, Barry, Adam, Leonard P., Leinwand, Leslie A., Wan, William, Choi, Esther Sue, Lindberg, Eric L., Patone, Giannino, Noseda, Michela, Hübner, Norbert, Seidman, Christine E., Tager, Andrew M., Seidman, J. G., Ho, Carolyn Y.
Publicado 2022

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

por 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., Ho, Carolyn Y.
Publicado 2023

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

por Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Ahmad, Mian, Mazaika, Erica, Allouba, Mona, Zhang, Xiaolei, de Marvao, Antonio, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Thomson, Kate L., Watkins, Hugh, Barton, Paul J. R., Olivotto, Iacopo, Cook, Stuart A., Ware, James S.
Publicado 2019