Search Results - "Jirikowic, Jean"

Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth by Lowery, Jan T., Axell, Lisen, Ku, Lisa, Todd, Emily B., Kao, Dave, Rafaels, Nick, Taylor, Matt R.G., Kudron, Elizabeth, Wicks, Stephen, Jirikowic, Jean, Shalowitz, Elise, Crooks, Kristy R.

“…To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. Enrollment in the biobank is…”
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Tafazzin Gene Mutations Are Uncommon Causes of Dilated Cardiomyopathy in Adults by Taylor, Matthew, Slavov, Dobromir, Salcedo, Ernesto, Zhu, Xiao, Ferguson, Deborah, Jirikowic, Jean, Di Lenarda, Andrea, Sinagra, Gianfranco, Mestroni, Luisa

“…Barth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin (TAZ) mutations…”
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Natural history of Danon disease by Boucek, Dana, Jirikowic, Jean, Taylor, Matthew

“…Danon disease is a rare but serious cardiac and skeletal myopathy leading to substantial morbidity and early mortality due to arrhythmia and cardiomyopathy…”
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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine by Wiley, Laura K., Shortt, Jonathan A., Roberts, Emily R., Lowery, Jan, Kudron, Elizabeth, Lin, Meng, Mayer, David, Wilson, Melissa, Brunetti, Tonya M., Chavan, Sameer, Phang, Tzu L., Pozdeyev, Nikita, Lesny, Joseph, Wicks, Stephen J., Moore, Ethan T., Morgenstern, Joshua L., Roff, Alanna N., Shalowitz, Elise L., Stewart, Adrian, Williams, Cole, Edelmann, Michelle N., Hull, Madelyne, Patton, J. Tacker, Axell, Lisen, Ku, Lisa, Lee, Yee Ming, Jirikowic, Jean, Tanaka, Anna, Todd, Emily, White, Sarah, Peterson, Brett, Hearst, Emily, Zane, Richard, Greene, Casey S., Mathias, Rasika, Coors, Marilyn, Taylor, Matthew, Ghosh, Debashis, Kahn, Michael G., Brooks, Ian M., Aquilante, Christina L., Kao, David, Rafaels, Nicholas, Crooks, Kristy R., Hess, Steve, Barnes, Kathleen C., Gignoux, Christopher R.

“…Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records,…”
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Phenotypic Expression, Natural History and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants by Gigli, Marta, Stolfo, Davide, Graw, Sharon, Merlo, Marco, Gregorio, Caterina, Chen, Suet Nee, Dal Ferro, Matteo, Paldino, Alessia, De Angelis, Giulia, Brun, Francesca, Jirikowic, Jean, Salcedo, Ernesto E., Turja, Sylvia, Fatkin, Diane, Johnson, Renee, van Tintelen, J. Peter, Te Riele, Anneline S.J.M., Wilde, Arthur, Lakdawala, Neal K., Picard, Kermshlise, Miani, Daniela, Muser, Daniele, Severini, Giovanni Maria, Calkins, Hugh, James, Cynthia A., Murray, Brittney, Tichnell, Crystal, Parikh, Victoria N., Ashley, Euan A., Reuter, Chloe, Song, Jiangping, Judge, Daniel, McKenna, William J., Taylor, Matthew R.G., Sinagra, Gianfranco, Mestroni, Luisa

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Association of Titin Variations With Late-Onset Dilated Cardiomyopathy by Cannatà, Antonio, Merlo, Marco, Dal Ferro, Matteo, Barbati, Giulia, Manca, Paolo, Paldino, Alessia, Graw, Sharon, Gigli, Marta, Stolfo, Davide, Johnson, Renee, Roy, Darius, Tharratt, Kevin, Bromage, Daniel I, Jirikowic, Jean, Abbate, Antonio, Goodwin, Allison, Rao, Krishnasree, Marawan, Amr, Carr-White, Gerry, Robert, Leema, Parikh, Victoria, Ashley, Euan, McDonagh, Theresa, Lakdawala, Neal K, Fatkin, Diane, Taylor, Matthew R G, Mestroni, Luisa, Sinagra, Gianfranco

“…Dilated cardiomyopathy (DCM) is frequently caused by genetic factors. Studies identifying deleterious rare variants have predominantly focused on early-onset…”
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Clinical and genetic characterization of adult patients presenting with non-syndromic vascular aneurysms and dissections by D'Souza, Ryan S, Slavov, Dobromir, Graw, Sharon, Jirikowic, Jean, Todd, Emily, Rogers, Robert K, Taylor, Matthew R

“…Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to…”
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Functional performance and muscle strength phenotypes in men and women with Danon disease by Stevens-Lapsley, Jennifer E., Kramer, Laurel R., Balter, Jaclyn E., Jirikowic, Jean, Boucek, Dana, Taylor, Matthew

“…Danon disease is a rare X‐linked myopathy that is characterized clinically by a triad of cardiomyopathy, skeletal myopathy, and cognitive impairment. The…”
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NATURAL HISTORY OF THE DANON DISEASE PHENOTYPE IN A LARGE AFFECTED POPULATION by Mestroni, Luisa, Boucek, Dana, Jirikowic, Jean, Wells, Cara, Taylor, Matthew R.G

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High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability by Taylor, Matthew R.G., Jirikowic, Jean, Wells, Cara, Springer, Michelle, McGavran, Loris, Lunt, Brenda, Swisshelm, Karen

“…Array comparative genomic hybridization is now a widely used clinical tool for the evaluation of intellectual disability. The current 10% yield of positive…”
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