المؤلفون: Group, The ITAC Study, Polizzotto, Mark N, Nordwall, Jacqueline, Babiker, Abdel G, Phillips, Andrew, Vock, David M, Eriobu, Nnakelu, Kwaghe, Vivian, Paredes, Roger, Mateu, Lourdes, Ramachandruni, Srikanth, Narang, Rajeev, Jain, Mamta K, Lazarte, Susana M, Baker, Jason V, Frosch, Anne EP, Poulakou, Garyfallia, Syrigos, Konstantinos N, Arnoczy, Gretchen S, McBride, Natalie A, Robinson, Philip A, Sarafian, Farjad, Bhagani, Sanjay, Taha, Hassan S, Benfield, Thomas, Liu, Sean TH, Antoniadou, Anastasia, Jensen, Jens Ulrik Stæhr, Kalomenidis, Ioannis, Susilo, Adityo, Hariadi, Prasetyo, Jensen, Tomas O, Morales-Rull, Jose Luis, Helleberg, Marie, Meegada, Sreenath, Johansen, Isik S, Canario, Daniel, Fernández-Cruz, Eduardo, Metallidis, Simeon, Shah, Amish, Sakurai, Aki, Koulouris, Nikolaos G, Trotman, Robin, Weintrob, Amy C, Podlekareva, Daria, Hadi, Usman, Lloyd, Kathryn M, Røge, Birgit Thorup, Saito, Sho, Sweerus, Kelly, Malin, Jakob J, Lübbert, Christoph, Muñoz, Jose, Cummings, Matthew J, Losso, Marcelo H, Turner, Dan, Shaw-Saliba, Kathryn, Dewar, Robin, Highbarger, Helene, Lallemand, Perrine, Rehman, Tauseef, Gerry, Norman, Arlinda, Dona, Chang, Christina C, Grund, Birgit, Holbrook, Michael R, Holley, Horace P, Hudson, Fleur, McNay, Laura A, Murray, Daniel D, Pett, Sarah L, Shaughnessy, Megan, Smolskis, Mary C, Touloumi, Giota, Wright, Mary E, Doyle, Mittie K, Popik, Sharon, Hall, Christine, Ramanathan, Roshan, Cao, Huyen, Mondou, Elsa, Willis, Todd, Thakuria, Joseph V, Yel, Leman, Higgs, Elizabeth, Kan, Virginia L, Lundgren, Jens D, Neaton, James D, Lane, H Clifford

المصدر: The Lancet. 399(10324)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Emerging Infectious Diseases, Clinical Research, Vaccine Related, Clinical Trials and Supportive Activities, Lung, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adenosine Monophosphate, Alanine, Antibodies, Neutralizing, Antiviral Agents, COVID-19, COVID-19 Vaccines, Double-Blind Method, Female, Hospitalization, Humans, Inpatients, Internationality, Male, Middle Aged, Treatment Outcome, Vaccines, Inactivated, ITAC (INSIGHT 013) Study Group, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3093f0p5

المؤلفون: Polizzotto, Mark N, Nordwall, Jacqueline, Babiker, Abdel G, Phillips, Andrew, Vock, David M, Eriobu, Nnakelu, Kwaghe, Vivian, Paredes, Roger, Mateu, Lourdes, Ramachandruni, Srikanth, Narang, Rajeev, Jain, Mamta K, Lazarte, Susana M, Baker, Jason V, Frosch, Anne EP, Poulakou, Garyfallia, Syrigos, Konstantinos N, Arnoczy, Gretchen S, McBride, Natalie A, Robinson, Philip A, Sarafian, Farjad, Bhagani, Sanjay, Taha, Hassan S, Benfield, Thomas, Liu, Sean TH, Antoniadou, Anastasia, Jensen, Jens Ulrik Stæhr, Kalomenidis, Ioannis, Susilo, Adityo, Hariadi, Prasetyo, Jensen MD, Tomas O, Morales-Rull, Jose Luis, Helleberg, Marie, Meegada, Sreenath, Johansen, Isik S, Canario, Daniel, Fernández-Cruz, Eduardo, Metallidis, Simeon, Shah, Amish, Sakurai, Aki, Koulouris, Nikolaos G, Trotman, Robin, Weintrob, Amy C, Podlekareva, Daria, Hadi, Usman, Lloyd, Kathryn M, Røge, Birgit Thorup, Saito, Sho, Sweerus, Kelly, Malin, Jakob J, Lübbert, Christoph, Muñoz, Jose, Cummings, Matthew J, Losso, Marcelo H, Turner, Dan, Shaw-Saliba, Kathryn, Dewar, Robin, Highbarger, Helene, Lallemand, Perrine, Rehman, Tauseef, Gerry, Norman, Arlinda, Dona, Chang, Christina C, Grund, Birgit, Holbrook, Michael R, Holley, Horace P, Hudson, Fleur, McNay, Laura A, Murray, Daniel D, Pett, Sarah L, Shaughnessy, Megan, Smolskis, Mary C, Touloumi, Giota, Wright, Mary E, Doyle, Mittie K, Popik, Sharon, Hall, Christine, Ramanathan, Roshan, Cao, Huyen, Mondou, Elsa, Willis, Todd, Thakuria, Joseph V, Yel, Leman, Higgs, Elizabeth, Kan, Virginia L, Lundgren, Jens D, Neaton, James D, Lane, H Clifford

المصدر: The Lancet , 399 (10324) pp. 530-540. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10143099/3/Pett_ITAC%20Main%20Text_Resubmission_Final_Clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10143099/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10143099/3/Pett_ITAC%20Main%20Text_Resubmission_Final_Clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10143099/

المؤلفون: 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

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 109(30)

مصطلحات موضوعية: Human Genome, Genetics, Biotechnology, Generic health relevance, Good Health and Well Being, Cell Line, Data Collection, Databases, Genetic, Genetic Variation, Genome, Human, Humans, Phenotype, Precision Medicine, Sequence Analysis, DNA, Software, genome interpretation, genomic medicine, human genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7b31z687

المؤلفون: 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

المصدر: PLoS genetics. 7(9)

مصطلحات موضوعية: Humans, Thrombophilia, Genetic Predisposition to Disease, Risk Assessment, Pedigree, Sequence Alignment, Sequence Analysis, DNA, DNA Mutational Analysis, Base Sequence, Genotype, Haplotypes, Alleles, Genes, Synthetic, Genome, Human, Reference Standards, Female, Male, Genetic Variation, Genome-Wide Association Study, Biotechnology, Genetics, Human Genome, 2.1 Biological and endogenous factors, Generic health relevance, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3bc617g2

المؤلفون: 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., Bruggenwirth, 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., Mendoza, Cinthya J. Zepeda, Menten, Bjorn, 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, Pina 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.

المصدر: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E ....

مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, DE-NOVO MUTATIONS, SEVERE MENTAL-RETARDATION, OF-FUNCTION MUTATIONS, MICRODELETION SYNDROME, CHROMOSOME REARRANGEMENTS, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, DEVELOPMENTAL DELAY, CANCER GENOMES

الاتاحة: https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://doi.org/10.1038/ng.3720
http://europepmc.org/articles/pmc5307971?pdf=render

المؤلفون: 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.

المصدر: Science, 2010 Jan 01. 327(5961), 78-81.

URL الوصول: https://www.jstor.org/stable/40508296

المؤلفون: 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.

المصدر: Circulation: Cardiovascular Genetics ; volume 3, issue 6, page 574-580 ; ISSN 1942-325X 1942-3268

الاتاحة: http://dx.doi.org/10.1161/circgenetics.110.958827
https://www.ahajournals.org/doi/full/10.1161/CIRCGENETICS.110.958827

المؤلفون: 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, J A, Stankiewicz, Pawel, Schnittger, Susanne, Hansmann, Ingo, Ai, Tomohiko, Sood, Subeena, Wehrens, Xander H, Martin, James F, Belmont, John W, Potocki, Lorraine

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/jmg.2008.061002v1; http://dx.doi.org/10.1136/jmg.2008.061002

الاتاحة: http://jmg.bmj.com/cgi/content/short/jmg.2008.061002v1
https://doi.org/10.1136/jmg.2008.061002

المؤلفون: Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, 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, Mendoza, Cinthya J Zepeda, 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, Aguilar, Raul E Piña, 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

URL: https://doi.org/10.1038/ng.3720
http://hdl.handle.net/1874/343058
https://dspace.library.uu.nl/handle/1874/343058
1061-4036
Nature Genetics
49
1

المؤلفون: 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.

المصدر: Ball , M P , Thakuria , J V , Zaranek , A W , Clegg , T , Rosenbaum , A M , Wu , X , Angrist , M , Bhak , J , Bobe , J , Callow , M J , Cano , C , Chou , M F , Chung , W K , Douglas , S M , Estep , P W , Gore , A , Hulick , P , Labarga , A , Lee , J-H , Lunshof , J E , Kim , B C , Kim , J-I , ....

مصطلحات موضوعية: genome interpretation, genomic medicine, human genetics

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f9cc3f26-30d4-4620-a570-14e9be84afb6
https://doi.org/10.1073/pnas.1201904109

المؤلفون: 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 T., 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, Madeline 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.

Relation: 7;9;2011; PMID:21935354; Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JT, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA (2011) Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genetics 7(9): e1002280.; http://hdl.handle.net/10255/dryad.34659

الاتاحة: http://hdl.handle.net/10255/dryad.34659
https://doi.org/10.5061/dryad.34q0d

المؤلفون: 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.

المصدر: ftpubmed

مصطلحات موضوعية: Article, socio, envir

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090664

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090664

المؤلفون: 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, Morgan, Alexander A, Pushkarev, Dmitry, Neff, Norma F, Hudgins, Louanne, Gong, Li, Hodges, Laura M, Berlin, Dorit S, Thorn, Caroline F, Sangkuhl, Katrin, Hebert, Joan M, Woon, Mark, Sagreiya, Hersh, Whaley, Ryan, Knowles, Joshua W, Chou, Michael, Thakuria, Joseph V, Rosenbaum, Abraham M, Zaranek, Alexander Wait, Church, George, Greely, Henry T, Quake, Stephen R, Altman, Russ B

مصطلحات موضوعية: Research Subject Categories::MEDICINE::Dermatology and venerology,clinical genetics, internal medicine::Clinical genetics, internal medicine::Internal medicine::Molecular medicine (genetics and pathology)

وصف الملف: application/pdf

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2937184/; The Lancet; Quick submit: 2017-08-08T12:52:26-0400; Ashley, Euan A, Atul J Butte, Matthew T Wheeler, Rong Chen, Teri E Klein, Frederick E Dewey, Joel T Dudley et al. "Clinical Assessment Incorporating a Personal Genome." The Lancet 375, no. 9725 (2010): 1525-1535. DOI:10.1016/s0140-6736(10)60452-7; https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37372762

الاتاحة: https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37372762
https://doi.org/10.1016/s0140-6736(10)60452-7

المؤلفون: 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 T., 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, Madeline 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.

Relation: http://hdl.handle.net/10255/dryad.35119

الاتاحة: http://hdl.handle.net/10255/dryad.35119
https://doi.org/10.5061/dryad.34q0d/3

المؤلفون: 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 T., 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, Madeline 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.

Relation: http://hdl.handle.net/10255/dryad.35120

الاتاحة: http://hdl.handle.net/10255/dryad.35120
https://doi.org/10.5061/dryad.34q0d/4

المؤلفون: 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., de Vries, Bert B A., Earl, Dawn L., Ferguson, Heather L., Harris, David J., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Margolin, Lauren, Grady, Margo, Graham, Brett H., Griffis, Cristin, Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Moya, Graciela, Mason, Tamara, 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., Masser-Frye, Diane, Nieuwint, Aggie W., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Parkash, Sandhya, Liao, Eric C., Ordulu, Zehra, Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., McClellan, Michael W., Mendoza, Cinthya J. Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Wiley, Susan, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J., Aberg, Erika, Wilson, Anna, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Yerena-de Vega, Maria de la Concepcion A., Adley, Rhett, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, Alkuraya, Fowzan S., van Der Burgt, Ineke, Alcaraz-Estrada, Sofia L., 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., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Gripp, Karen W., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Gropman, Andrea L., 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, Hanson-Kahn, Andrea, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezső, Deardorff, Matthew A., Dheedene, Annelies, D'Hooghe, Marc

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Cytogenetics, Structural Variation, Balanced Chromosomal Abnormality, Congenital Anomaly, Intellectual Disability, Autism, Translocation, Inversion, Chromothripsis, Topologically Associated Domain (TAD), MEF2C, Cytogenetic Abnormalities, Human Congenital Anomalies, Doenças Genómicas, Doenças Genéticas

وصف الملف: application/pdf

Relation: 1061-4036

الاتاحة: http://hdl.handle.net/10400.18/4461

المؤلفون: Fradley, Michael G.¹ mfradley@partners.org, Thakuria, Joseph V.², Collins, A. Bernard³, Moore, Stephanie A.¹, Stone, James R.³

المصدر: Texas Heart Institute Journal. 2012, Vol. 39 Issue 1, p71-75. 5p. 6 Color Photographs, 2 Black and White Photographs.

مصطلحات موضوعية: *PROTEIN precursors, *PROTEINS, *IMMUNOGLOBULINS, *TRANSTHYRETIN

المؤلفون: Lindsay, Mark E.^1,2,3, Dudzinski, David M.^1,2, Yoon, Byung C.^4,5, Jaff, Michael R.^2,6, Thakuria, Joseph V.³

المصدر: New England Journal of Medicine. 9/30/2021, Vol. 385 Issue 14, p1317-1325. 9p.

مصطلحات موضوعية: *NECK pain, *AORTIC dissection, *HEADACHE, *PERIPHERAL vascular diseases, *TAKAYASU arteritis, *MEDICAL personnel, *VERTEBRAL artery dissections

المؤلفون: Michelle Whirl-Carrillo, Carlos Bustamante, Matthew T. Wheeler, Atul J. Butte, Emidio Capriotti, Katrin Sangkuhl, Kelly E. Ormond, Konrad J. Karczewski, Joshua W. Knowles, Joel T. Dudley, Russ B. Altman, Euan A. Ashley, Joan M. Hebert, Aleksandra Pavlovic, Mark Woon, Madeleine Ball, Teri E. Klein, Joseph V. Thakuria, Sergio Cordero, Anne West, John West, Jake K. Byrnes, Colleen Caleshu, George M. Church, Omar E. Cornejo, Heidi L. Rehm, Alexander Wait Zaranek, Frederick E. Dewey, Li Gong, Sean P. David, Michael Snyder, Rong Chen, Caroline F. Thorn

المساهمون: 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, Copenhaver, Gregory P

المصدر: PLoS genetics, vol 7, iss 9
PLoS Genetics, Vol 7, Iss 9, p e1002280 (2011)
PLoS Genetics

مصطلحات موضوعية: Male, Cancer Research, DNA Mutational Analysis, Genome-wide association study, 0302 clinical medicine, Genes, Synthetic, 2.1 Biological and endogenous factors, Thrombophilia, Aetiology, Genetics (clinical), Genetics, 0303 health sciences, Genome, Reference Standards, 3. Good health, Pedigree, 030220 oncology & carcinogenesis, Female, Sequence Analysis, Research Article, Human, Biotechnology, lcsh:QH426-470, Genotype, Biology, Risk Assessment, DNA sequencing, 03 medical and health sciences, Genetic, Genetic Mutation, Genetic variation, Humans, Genetic Predisposition to Disease, Allele, Genotyping, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Alleles, 030304 developmental biology, Base Sequence, Genome, Human, Haplotype, Synthetic, Human Genome, Genetic Variation, Human Genetics, DNA, Sequence Analysis, DNA, Ecology, Evolution, Behavior and Systematic, lcsh:Genetics, Genes, Haplotypes, Genetics of Disease, Human genome, Generic health relevance, Sequence Alignment, Reference genome, Developmental Biology, Genome-Wide Association Study

وصف الملف: ELETTRONICO; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64e93193f1b83fad175697e60fabd6e
https://pubmed.ncbi.nlm.nih.gov/21969036