Direct Tissue Evaluation via Immunofluorescence: in the Diagnosis of Hereditary Transthyretin Cardiac Amyloidosis

Por Fradley, Michael G., Thakuria, Joseph V., Collins, A. Bernard, Moore, Stephanie A., Stone, James R.
Publicado em 2012

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Por Lalani, Seema R, Thakuria, Joseph V, Cox, Gerald F, Wang, Xueqing, Bi, Weimin, Bray, Molly S, Shaw, Chad, Cheung, Sau W, Chinault, A Craig, Boggs, Barbara A, Ou, Zhishuo, Brundage, Ellen K, Lupski, James R, Gentile, Jennifer, Waisbren, Susan, Pursley, Amber, Ma, Lijiang, Khajavi, Mehrdad, Zapata, Gladys, Friedman, Richard, Kim, Jeffrey J, Towbin, JA, Stankiewicz, Pawel, Schnittger, Susanne, Hansmann, Ingo, Ai, Tomohiko, Sood, Subeena, Wehrens, Xander H, Martin, James F, Belmont, John W, Potocki, Lorraine
Publicado em 2008

Ethical and Practical Guidelines for Reporting Genetic Research Results To Study Participants: Updated Guidelines from an NHLBI Working Group

Por 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.
Publicado em 2010

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

Por 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.
Publicado em 2011

A public resource facilitating clinical use of genomes

Por 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.
Publicado em 2012

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

Por Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Publicado no Nat Genet (2016)