Clinical assessment incorporating a personal genome
Ashley, Euan A, Dr, Butte, Atul J, MD, Wheeler, Matthew T, MD, Chen, Rong, PhD, Klein, Teri E, PhD, Dewey, Frederick E, MD, Dudley, Joel T, Ormond, Kelly E, MSc, Pavlovic, Aleksandra, BS, Morgan, Alexander A, MS, Pushkarev, Dmitry, Neff, Norma F, PhD, Hudgins, Louanne, Prof, Gong, Li, PhD, Hodges, Laura M, PhD, Berlin, Dorit S, PhD, Thorn, Caroline F, PhD, Sangkuhl, Katrin, PhD, Hebert, Joan M, MA, Woon, Mark, BSE, Sagreiya, Hersh, Whaley, Ryan, BS, Knowles, Joshua W, MD, Chou, Michael F, PhD, Thakuria, Joseph V, MD, Rosenbaum, Abraham M, PhD, Zaranek, Alexander Wait, PhD, Church, George M, PhD, Greely, Henry T, Prof, Quake, Stephen R, PhD, Altman, Russ B, Prof
Published in The Lancet (British edition) (01.05.2010)
Published in The Lancet (British edition) (01.05.2010)
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Journal Article
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, Radoje, Sparks, Andrew B., Callow, Matthew J., Halpern, Aaron L., Burns, Norman L., Kermani, Bahram G., Carnevali, Paolo, Nazarenko, Igor, Nilsen, Geoffrey B., Yeung, George, Dahl, Fredrik, Fernandez, Andres, Staker, Bryan, Pant, Krishna P., Baccash, Jonathan, Borcherding, Adam P., Brownley, Anushka, Cedeno, Ryan, Chen, Linsu, Chernikoff, Dan, Cheung, Alex, Chirita, Razvan, Curson, Benjamin, Ebert, Jessica C., Hacker, Coleen R., Hartlage, Robert, Häuser, Brian, Huang, Steve, Jiang, Yuan, Karpinchyk, Vitali, Koenig, Mark, Kong, Calvin, Landers, Tom, Le, Catherine, Liu, Jia, McBride, Celeste E., Morenzoni, Matt, Morey, Robert E., Mutch, Karl, Perazich, Helena, Perry, Kimberly, Peters, Brock A., Peterson, Joe, Pethiyagoda, Charit L., Pothuraju, Kaliprasad, Richter, Claudia, Rosenbaum, Abraham M., Roy, Shaunak, Shafto, Jay, Sharanhovich, Uladzislau, Shannon, Karen W., Sheppy, Conrad G., Sun, Michel, Thakuria, Joseph V., Tran, Anne, Vu, Dylan, Zaranek, Alexander Wait, Wu, Xiaodi, Drmanac, Snezana, Oliphant, Arnold R., Banyai, William C., Martin, Bruce, Ballinger, Dennis G., Church, George M., Reid, Clifford A.
Published in Science (American Association for the Advancement of Science) (01.01.2010)
Published in Science (American Association for the Advancement of Science) (01.01.2010)
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Journal Article
Case 30-2021: A 47-Year-Old Man with Recurrent Unilateral Head and Neck Pain
Lindsay, Mark E, Dudzinski, David M, Yoon, Byung C, Jaff, Michael R, Thakuria, Joseph V
Published in The New England journal of medicine (30.09.2021)
Published in The New England journal of medicine (30.09.2021)
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Journal Article
Conference Proceeding
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
Dewey, Frederick E, Chen, Rong, Cordero, Sergio P, Ormond, Kelly E, Caleshu, Colleen, Karczewski, Konrad J, Whirl-Carrillo, Michelle, Wheeler, Matthew T, Dudley, Joel T, Byrnes, Jake K, Cornejo, Omar E, Knowles, Joshua W, Woon, Mark, Sangkuhl, Katrin, Gong, Li, Thorn, Caroline F, Hebert, Joan M, Capriotti, Emidio, David, Sean P, Pavlovic, Aleksandra, West, Anne, Thakuria, Joseph V, Ball, Madeleine P, Zaranek, Alexander W, Rehm, Heidi L, Church, George M, West, John S, Bustamante, Carlos D, Snyder, Michael, Altman, Russ B, Klein, Teri E, Butte, Atul J, Ashley, Euan A
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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Journal Article
public resource facilitating clinical use of genomes
Ball, Madeleine P, Thakuria, Joseph V, Zaranek, Alexander Wait, Clegg, Tom, Rosenbaum, Abraham M, Wu, Xiaodi, Angrist, Misha, Bhak, Jong, Bobe, Jason, Callow, Matthew J, Cano, Carlos, Chou, Michael F, Chung, Wendy K, Douglas, Shawn M, Estep, Preston W, Gore, Athurva, Hulick, Peter, Labarga, Alberto, Lee, Je-Hyuk, Lunshof, Jeantine E, Kim, Byung Chul, Kim, Jong-Il, Li, Zhe, Murray, Michael F, Nilsen, Geoffrey B, Peters, Brock A, Raman, Anugraha M, Rienhoff, Hugh Y, Robasky, Kimberly, Wheeler, Matthew T, Vandewege, Ward, Vorhaus, Daniel B, Yang, Joyce L, Yang, Luhan, Aach, John, Ashley, Euan A, Drmanac, Radoje, Kim, Seong-Jin, Li, Jin Billy, Peshkin, Leonid, Seidman, Christine E, Seo, Jeong-Sun, Zhang, Kun, Rehm, Heidi L, Church, George M
Published in Proceedings of the National Academy of Sciences - PNAS (24.07.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (24.07.2012)
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Journal Article
Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group
Fabsitz, Richard R, McGuire, Amy, Sharp, Richard R, Puggal, Mona, Beskow, Laura M, Biesecker, Leslie G, Bookman, Ebony, Burke, Wylie, Burchard, Esteban Gonzalez, Church, George, Clayton, Ellen Wright, Eckfeldt, John H, Fernandez, Conrad V, Fisher, Rebecca, Fullerton, Stephanie M, Gabriel, Stacey, Gachupin, Francine, James, Cynthia, Jarvik, Gail P, Kittles, Rick, Leib, Jennifer R, OʼDonnell, Christopher, OʼRourke, P Pearl, Rodriguez, Laura Lyman, Schully, Sheri D, Shuldiner, Alan R, Sze, Rebecca K.F, Thakuria, Joseph V, Wolf, Susan M, Burke, Gregory L
Published in Circulation. Cardiovascular genetics (01.12.2010)
Published in Circulation. Cardiovascular genetics (01.12.2010)
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Journal Article
Back to the future: From genome to metabolome
Thakuria, Joseph V., Zaranek, Alexander W., Church, George M., Berry, Gerard T.
Published in Human mutation (01.05.2012)
Published in Human mutation (01.05.2012)
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Journal Article
Personal genomes in progress: from the Human Genome Project to the Personal Genome Project
Lunshof (Co-first author), Jeantine E., Bobe (Co-first author), Jason, Aach, John, Angrist, Misha, V. Thakuria, Joseph, Vorhaus, Daniel B., R. Hoehe (Co-last author), Margret, Church (Co-last author), George M.
Published in Dialogues in clinical neuroscience (2010)
Published in Dialogues in clinical neuroscience (2010)
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Journal Article
Comments and Suggestions for Improvement of the Archon Genomics X PRIZE Validation Protocol
Zaranek, Alexander Wait, Clegg, Tom, Vandewege, Ward, Thakuria, Joseph
Published in Nature precedings (09.03.2011)
Published in Nature precedings (09.03.2011)
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Journal Article
What's New in Genetic Testing for Cancer Susceptibility?
Plichta, Jennifer K, Griffin, Molly, Thakuria, Joseph, Hughes, Kevin S
Published in Oncology (Williston Park, N.Y.) (01.09.2016)
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Published in Oncology (Williston Park, N.Y.) (01.09.2016)
Journal Article
A highly annotated whole-genome sequence of a Korean individual
Seo, Jeong-Sun, Kim, Jong-Il, Ju, Young Seok, Park, Hansoo, Kim, Sheehyun, Lee, Seonwook, Yi, Jae-Hyuk, Mudge, Joann, Miller, Neil A, Hong, Dongwan, Bell, Callum J, Kim, Hye-Sun, Chung, In-Soon, Lee, Woo-Chung, Lee, Ji-Sun, Seo, Seung-Hyun, Yun, Ji-Young, Woo, Hyun Nyun, Lee, Heewook, Suh, Dongwhan, Lee, Seungbok, Kim, Hyun-Jin, Yavartanoo, Maryam, Kwak, Minhye, Zheng, Ying, Lee, Mi Kyeong, Park, Hyunjun, Kim, Jeong Yeon, Gokcumen, Omer, Mills, Ryan E, Zaranek, Alexander Wait, Thakuria, Joseph, Wu, Xiaodi, Kim, Ryan W, Huntley, Jim J, Luo, Shujun, Schroth, Gary P, Wu, Thomas D, Kim, HyeRan, Yang, Kap-Seok, Park, Woong-Yang, Kim, Hyungtae, Church, George M, Lee, Charles, Kingsmore, Stephen F
Published in Nature (London) (20.08.2009)
Published in Nature (London) (20.08.2009)
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Journal Article
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Miller, D T, Shen, Y, Weiss, L A, Korn, J, Anselm, I, Bridgemohan, C, Cox, G F, Dickinson, H, Gentile, J, Harris, D J, Hegde, V, Hundley, R, Khwaja, O, Kothare, S, Luedke, C, Nasir, R, Poduri, A, Prasad, K, Raffalli, P, Reinhard, A, Smith, S E, Sobeih, M M, Soul, J S, Stoler, J, Takeoka, M, Tan, W-H, Thakuria, J, Wolff, R, Yusupov, R, Gusella, J F, Daly, M J, Wu, B-L
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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Journal Article
20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
Lalani, S R, Thakuria, J V, Cox, G F, Wang, X, Bi, W, Bray, M S, Shaw, C, Cheung, S W, Chinault, A C, Boggs, B A, Ou, Z, Brundage, E K, Lupski, J R, Gentile, J, Waisbren, S, Pursley, A, Ma, L, Khajavi, M, Zapata, G, Friedman, R, Kim, J J, Towbin, J A, Stankiewicz, P, Schnittger, S, Hansmann, I, Ai, T, Sood, S, Wehrens, X H, Martin, J F, Belmont, J W, Potocki, L
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Journal Article
Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies
Chiu, Chia-Hua, Thakuria, Joseph, Agrawal, Pankaj B.
Published in Indian journal of pediatrics (01.02.2010)
Published in Indian journal of pediatrics (01.02.2010)
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Journal Article
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence: e1002280
Dewey, Frederick E, Chen, Rong, Cordero, Sergio P, Ormond, Kelly E, Caleshu, Colleen, Karczewski, Konrad J, Whirl-Carrillo, Michelle, Wheeler, Matthew T, Dudley, Joel T, Byrnes, Jake K, Cornejo, Omar E, Knowles, Joshua W, Woon, Mark, Sangkuhl, Katrin, Gong, Li, Thorn, Caroline F, Hebert, Joan M, Capriotti, Emidio, David, Sean P, Pavlovic, Aleksandra, West, Anne, Thakuria, Joseph V, Ball, Madeleine P, Zaranek, Alexander W, Rehm, Heidi L, Church, George M, West, John S, Bustamante, Carlos D, Snyder, Michael, Altman, Russ B, Klein, Teri E, Butte, Atul J, Ashley, Euan A
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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Journal Article
Clinical evaluation incorporating a personal genome
Ashley, Euan A., Butte, Atul J., Wheeler, Matthew T., Chen, Rong, Klein, Teri E., Dewey, Frederick E., Dudley, Joel T., Ormond, Kelly E., Pavlovic, Aleksandra, Hudgins, Louanne, Gong, Li, Hodges, Laura M., Berlin, Dorit S., Thorn, Caroline F., Sangkuhl, Katrin, Hebert, Joan M., Woon, Mark, Sagreiya, Hersh, Whaley, Ryan, Morgan, Alexander A., Pushkarev, Dmitry, Neff, Norma F, Knowles, Joshua W., Chou, Mike, Thakuria, Joseph, Rosenbaum, Abraham, Zaranek, Alexander Wait, Church, George, Greely, Henry T., Quake, Stephen R., Altman, Russ B.
Published in The Lancet (British edition) (01.05.2010)
Published in The Lancet (British edition) (01.05.2010)
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Journal Article
Subglossopalatal Synechia in Association with Cardiac and Digital Anomalies
Oh, Albert K., Thakuria, Joseph, Kimonis, Virginia, Mulliken, John B.
Published in The Cleft palate-craniofacial journal (01.03.2008)
Published in The Cleft palate-craniofacial journal (01.03.2008)
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Journal Article
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders
Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi, Soul, Janet, Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Peter, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin
Published in Journal of medical genetics (01.11.2008)
Published in Journal of medical genetics (01.11.2008)
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Journal Article
Ethical and Practical Guidelines for Reporting Genetic Research Results To Study Participants: Updated Guidelines from an NHLBI Working Group
Fabsitz, Richard R., McGuire, Amy, Sharp, Richard R., Puggal, Mona, Beskow, Laura M., Biesecker, Leslie G., Bookman, Ebony, Burke, Wylie, Burchard, Esteban Gonzalez, Church, George, Clayton, Ellen Wright, Eckfeldt, John H., Fernandez, Conrad V., Fisher, Rebecca, Fullerton, Stephanie M., Gabriel, Stacey, Gachupin, Francine, James, Cynthia, Jarvik, Gail P., Kittles, Rick, Leib, Jennifer R., O’Donnell, Christopher, O'Rourke, P. Pearl, Rodriguez, Laura Lyman, Schully, Sheri D., Shuldiner, Alan R., Sze, Rebecca K.F., Thakuria, Joseph V., Wolf, Susan M., Burke, Gregory L.
Published in Circulation. Cardiovascular genetics (01.12.2010)
Published in Circulation. Cardiovascular genetics (01.12.2010)
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Journal Article