Spectrum of somatic mitochondrial mutations in five cancers
Larman, Tatianna C, DePalma, Steven R, Hadjipanayis, Angela G, Protopopov, Alexei, Zhang, Jianhua, Gabriel, Stacey B, Chin, Lynda, Seidman, Christine E, Kucherlapati, Raju, Seidman, J. G
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (28.08.2012)
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Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles
Martin-Trujillo, Alejandro, Patel, Nihir, Richter, Felix, Jadhav, Bharati, Garg, Paras, Morton, Sarah U, McKean, David M, DePalma, Steven R, Goldmuntz, Elizabeth, Gruber, Dorota, Kim, Richard, Newburger, Jane W, Porter, Jr, George A, Giardini, Alessandro, Bernstein, Daniel, Tristani-Firouzi, Martin, Seidman, Jonathan G, Seidman, Christine E, Chung, Wendy K, Gelb, Bruce D, Sharp, Andrew J
Published in PLoS genetics (20.11.2020)
Published in PLoS genetics (20.11.2020)
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Loss of RNA expression and allele-specific expression associated with congenital heart disease
McKean, David M, Homsy, Jason, Wakimoto, Hiroko, Patel, Neil, Gorham, Joshua, DePalma, Steven R, Ware, James S, Zaidi, Samir, Ma, Wenji, Patel, Nihir, Lifton, Richard P, Chung, Wendy K, Kim, Richard, Shen, Yufeng, Brueckner, Martina, Goldmuntz, Elizabeth, Sharp, Andrew J, Seidman, Christine E, Gelb, Bruce D, Seidman, J G
Published in Nature communications (27.09.2016)
Published in Nature communications (27.09.2016)
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Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
Bick, Alexander G., Flannick, Jason, Ito, Kaoru, Cheng, Susan, Vasan, Ramachandran S., Parfenov, Michael G., Herman, Daniel S., DePalma, Steven R., Gupta, Namrata, Gabriel, Stacey B., Funke, Birgit H., Rehm, Heidi L., Benjamin, Emelia J., Aragam, Jayashri, Taylor, Herman A., Fox, Ervin R., Newton-Cheh, Christopher, Kathiresan, Sekar, O’Donnell, Christopher J., Wilson, James G., Altshuler, David M., Hirschhorn, Joel N., Seidman, J.G., Seidman, Christine
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity
Abou Hassan, Ossama K, Fahed, Akl C, Batrawi, Manal, Arabi, Mariam, Refaat, Marwan M, DePalma, Steven R, Seidman, J G, Seidman, Christine E, Bitar, Fadi F, Nemer, Georges M
Published in Scientific reports (06.03.2015)
Published in Scientific reports (06.03.2015)
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Journal Article
Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
Kamisago, Mitsuhiro, Sharma, Pankaj, Sharma, Sapna D, DePalma, Steven R, Solomon, Scott, McDonough, Barbara, Smoot, Leslie, Mullen, Mary P, Woolf, Paul K, Wigle, E. Douglas, Seidman, Christine E, Seidman, J.G, Jarcho, John, Shapiro, Lawrence R
Published in The New England journal of medicine (07.12.2000)
Published in The New England journal of medicine (07.12.2000)
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Journal Article
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Gensure, Robert C, Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, Depalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G, Cole, William G, Jüppner, Harald
Published in The Journal of clinical investigation (01.05.2005)
Published in The Journal of clinical investigation (01.05.2005)
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Journal Article
Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35
Bahmad, Fayez, DePalma, Steven R., Merchant, Saumil N., Bezerra, Roberta L., Oliveira, Carlos A., Seidman, Christine E., Seidman, Jonathan G.
Published in Annals of otology, rhinology & laryngology (01.09.2009)
Published in Annals of otology, rhinology & laryngology (01.09.2009)
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Journal Article
Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy
Garcia-Pavia, Pablo, Kim, Yuri, Restrepo-Cordoba, Maria Alejandra, Lunde, Ida G, Wakimoto, Hiroko, Smith, Amanda M, Toepfer, Christopher N, Getz, Kelly, Gorham, Joshua, Patel, Parth, Ito, Kaoru, Willcox, Jonathan A, Arany, Zoltan, Li, Jian, Owens, Anjali T, Govind, Risha, Nuñez, Beatriz, Mazaika, Erica, Bayes-Genis, Antoni, Walsh, Roddy, Finkelman, Brian, Lupon, Josep, Whiffin, Nicola, Serrano, Isabel, Midwinter, William, Wilk, Alicja, Bardaji, Alfredo, Ingold, Nathan, Buchan, Rachel, Tayal, Upasana, Pascual-Figal, Domingo A, de Marvao, Antonio, Ahmad, Mian, Garcia-Pinilla, Jose Manuel, Pantazis, Antonis, Dominguez, Fernando, John Baksi, A, O’Regan, Declan P, Rosen, Stuart D, Prasad, Sanjay K, Lara-Pezzi, Enrique, Provencio, Mariano, Lyon, Alexander R, Alonso-Pulpon, Luis, Cook, Stuart A, DePalma, Steven R, Barton, Paul J.R, Aplenc, Richard, Seidman, Jonathan G, Ky, Bonnie, Ware, James S, Seidman, Christine E
Published in Circulation (New York, N.Y.) (02.07.2019)
Published in Circulation (New York, N.Y.) (02.07.2019)
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Journal Article
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S., Samocha, Kaitlin E., Karczewski, Konrad J., DePalma, Steven R., McKean, David, Wakimoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A., Kim, Richard, Bilguvar, Kaya, López-Giráldez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E., Russell, Mark W., Mital, Seema, Newburger, Jane W., Gaynor, J. William, Breitbart, Roger E., Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J., Kaltman, Jonathan R., Seidman, Jonathan G., Brueckner, Martina, Gelb, Bruce D., Goldmuntz, Elizabeth, Lifton, Richard P., Seidman, Christine E., Chung, Wendy K.
Published in Science (American Association for the Advancement of Science) (04.12.2015)
Published in Science (American Association for the Advancement of Science) (04.12.2015)
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Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Alfares, Ahmed A, Kelly, Melissa A, McDermott, Gregory, Funke, Birgit H, Lebo, Matthew S, Baxter, Samantha B, Shen, Jun, McLaughlin, Heather M, Clark, Eugene H, Babb, Larry J, Cox, Stephanie W, DePalma, Steven R, Ho, Carolyn Y, Seidman, J G, Seidman, Christine E, Rehm, Heidi L
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Journal Article
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Richter, Felix, Morton, Sarah U, Kim, Seong Won, Kitaygorodsky, Alexander, Wasson, Lauren K, Chen, Kathleen M, Zhou, Jian, Qi, Hongjian, Patel, Nihir, DePalma, Steven R, Parfenov, Michael, Homsy, Jason, Gorham, Joshua M, Manheimer, Kathryn B, Velinder, Matthew, Farrell, Andrew, Marth, Gabor, Schadt, Eric E, Kaltman, Jonathan R, Newburger, Jane W, Giardini, Alessandro, Goldmuntz, Elizabeth, Brueckner, Martina, Kim, Richard, Porter, Jr, George A, Bernstein, Daniel, Chung, Wendy K, Srivastava, Deepak, Tristani-Firouzi, Martin, Troyanskaya, Olga G, Dickel, Diane E, Shen, Yufeng, Seidman, Jonathan G, Seidman, Christine E, Gelb, Bruce D
Published in Nature genetics (01.08.2020)
Published in Nature genetics (01.08.2020)
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Truncations of Titin Causing Dilated Cardiomyopathy
Herman, Daniel S, Lam, Lien, Taylor, Matthew R.G, Wang, Libin, Teekakirikul, Polakit, Christodoulou, Danos, Conner, Lauren, DePalma, Steven R, McDonough, Barbara, Sparks, Elizabeth, Teodorescu, Debbie Lin, Cirino, Allison L, Banner, Nicholas R, Pennell, Dudley J, Graw, Sharon, Merlo, Marco, Di Lenarda, Andrea, Sinagra, Gianfranco, Bos, J. Martijn, Ackerman, Michael J, Mitchell, Richard N, Murry, Charles E, Lakdawala, Neal K, Ho, Carolyn Y, Barton, Paul J.R, Cook, Stuart A, Mestroni, Luisa, Seidman, Christine E, Seidman, J.G
Published in The New England journal of medicine (16.02.2012)
Published in The New England journal of medicine (16.02.2012)
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Journal Article
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation
Agarwal, Radhika, Paulo, Joao A, Toepfer, Christopher N, Ewoldt, Jourdan K, Sundaram, Subramanian, Chopra, Anant, Zhang, Qi, Gorham, Joshua, DePalma, Steven R, Chen, Christopher S, Gygi, Steven P, Seidman, Christine E, Seidman, J G
Published in Circulation research (17.09.2021)
Published in Circulation research (17.09.2021)
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Journal Article
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
Glessner, Joseph T, Bick, Alexander G, Ito, Kaoru, Homsy, Jason G, 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 (24.10.2014)
Published in Circulation research (24.10.2014)
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Journal Article
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3 , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere
Agarwal, Radhika, Wakimoto, Hiroko, Paulo, Joao A, Zhang, Qi, Reichart, Daniel, Toepfer, Christopher, Sharma, Arun, Tai, Angela C, Lun, Mingyue, Gorham, Joshua, DePalma, Steven R, Gygi, Steven P, Seidman, J G, Seidman, Christine E
Published in Circulation (New York, N.Y.) (29.11.2022)
Published in Circulation (New York, N.Y.) (29.11.2022)
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Journal Article
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing
Ito, Kaoru, Patel, Parth N., Gorham, Joshua M., McDonough, Barbara, DePalma, Steven R., Adler, Emily E., Lam, Lien, MacRae, Calum A., Mohiuddin, Syed M., Fatkin, Diane, Seidman, Christine E., Seidman, J. G.
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
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Journal Article
Discordant clinical features of identical hypertrophic cardiomyopathy twins
Repetti, Giuliana G, Kim, Yuri, Pereira, Alexandre C, Ingles, Jodie, Russell, Mark W, Lakdawala, Neal K, Ho, Carolyn Y, Day, Sharlene, Semsarian, Christopher, McDonough, Barbara, DePalma, Steven R, Quiat, Daniel, Green, Eric M, Seidman, Christine E, Seidman, J G
Published in Proceedings of the National Academy of Sciences - PNAS (09.03.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (09.03.2021)
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Journal Article
Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery
Fox, Amanda A, Pretorius, Mias, Liu, Kuang-Yu, Collard, Charles D, Perry, Tjorvi E, Shernan, Stanton K, De Jager, Philip L, Hafler, David A, Herman, Daniel S, DePalma, Steven R, Roden, Dan M, Muehlschlegel, Jochen D, Donahue, Brian S, Darbar, Dawood, Seidman, J G, Body, Simon C, Seidman, Christine E
Published in PloS one (30.09.2011)
Published in PloS one (30.09.2011)
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Journal Article
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants
Ito, Kaoru, Bick, Alexander G, Flannick, Jason, Friedman, David J, Genovese, Giulio, Parfenov, Michael G, DePalma, Steven R, Gupta, Namrata, Gabriel, Stacey B, Taylor, Herman A, Fox, Ervin R, Newton-Cheh, Christopher, Kathiresan, Sekar, Hirschhorn, Joel N, Altshuler, David M, Pollak, Martin R, Wilson, James G, Seidman, J.G, Seidman, Christine
Published in Circulation research (28.02.2014)
Published in Circulation research (28.02.2014)
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