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Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
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Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy
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Published in American journal of human genetics (07.09.2023)
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Published in Circulation (New York, N.Y.) (30.09.2014)
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Published in Heart (British Cardiac Society) (01.05.2019)
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Published in Anesthesiology (Philadelphia) (01.03.2015)
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Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data
Glessner, Joseph T., Bick, Alexander G., Ito, Kaoru, Homsy, Jason, Rodriguez-Murillo, Laura, Fromer, Menachem, Mazaika, Erica, Vardarajan, Badri, Italia, Michael, Leipzig, Jeremy, DePalma, Steven R., Golhar, Ryan, Sanders, Stephan J., Yamrom, Boris, Ronemus, Michael, Iossifov, Ivan, Willsey, A. Jeremy, State, Matthew W., Kaltman, Jonathan R., White, Peter S., Shen, Yufeng, Warburton, Dorothy, Brueckner, Martina, Seidman, Christine, Goldmuntz, Elizabeth, Gelb, Bruce D., Lifton, Richard, Seidman, Jonathan, Hakonarson, Hakon, Chung, Wendy K.
Published in Circulation research (17.09.2014)
Published in Circulation research (17.09.2014)
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Journal Article
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Mian, Ahmad, Mazzarotto, Francesco, Roberts, Angharad, Pantazis Theotokis, Mazaika, Erica, Allouba, Mona, De Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M, Ashley, Euan, Colan, Steven D, Michels, Michelle, Pereira, Alexandre C, Jacoby, Daniel, Ho, Carolyn Y, Olivotto, Iacopo, Gunnarsson, Gunnar T, Jefferies, John, Semsarian, Chris, Ingles, Jodie, O'regan, Declan P, Aguib, Yasmine, Yacoub, Magdi H, Cook, Stuart, Barton, Paul Jr, Bottolo, Leonardo, Ware, James S
Published in bioRxiv (30.03.2020)
Published in bioRxiv (30.03.2020)
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Paper
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Mian, Ahmad, 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 Jr, Olivotto, Iacopo, Cook, Stuart A, Ware, James S
Published in bioRxiv (31.07.2018)
Published in bioRxiv (31.07.2018)
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