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

gan Fradley, Michael G., Thakuria, Joseph V., Collins, A. Bernard, Moore, Stephanie A., Stone, James R.
Cyhoeddwyd 2012

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

gan 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
Cyhoeddwyd 2008

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

gan 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.
Cyhoeddwyd 2010

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

gan 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.
Cyhoeddwyd 2011

A public resource facilitating clinical use of genomes

gan 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.
Cyhoeddwyd 2012

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

gan 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.
Cyhoeddwyd yn Nat Genet (2016)