المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne

المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21

العلاقة: https://doi.org/10.1056/NEJMoa2314761Test; https://pubmed.ncbi.nlm.nih.gov/38838312Test

الإتاحة: https://doi.org/10.1056/NEJMoa2314761Test
https://pubmed.ncbi.nlm.nih.gov/38838312Test

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, Abreu, Maria, Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Armean, Irina M., Atkinson, Elizabeth G., Atzmon, Gil, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Boehnke, Michael, Weersma, Rinse K.

المصدر: Genome Aggregation Database Consortium , Chen , S , Francioli , L C , Goodrich , J K , Collins , R L , Kanai , M , Wang , Q , Alföldi , J , Watts , N A , Vittal , C , Gauthier , L D , Poterba , T , Wilson , M W , Tarasova , Y , Phu , W , Grant , R , Yohannes , M T , Koenig , Z , Farjoun , Y , Banks , E , Donnelly , S , Gabriel , S , Gupta , N ....

مصطلحات موضوعية: Computational biology and bioinformatics, DNA sequencing, Evolutionary genetics, Genetic variation, Genotype

العلاقة: https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest

الإتاحة: https://doi.org/10.1038/s41586-024-07050-7Test
https://hdl.handle.net/11370/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
https://research.rug.nl/en/publications/e43af3d5-8e5a-46dc-9421-1895aaf749bbTest
http://www.scopus.com/inward/record.url?scp=85182477492&partnerID=8YFLogxKTest

المؤلفون: Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., O’Donnell-Luria, Anne, Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison

المصدر: Genetics in Medicine ; volume 24, issue 4, page 784-797 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.12.005Test
https://api.elsevier.com/content/article/PII:S1098360021054642?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021054642?httpAccept=text/plainTest

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, Abreu, Maria, Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Armean, Irina M., Atkinson, Elizabeth G., Atzmon, Gil, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Boehnke, Michael, Bonnycastle, Lori L.

المصدر: Nature ; volume 625, issue 7993, page 92-100 ; ISSN 0028-0836 1476-4687

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41586-023-06045-0Test
https://www.nature.com/articles/s41586-023-06045-0.pdfTest
https://www.nature.com/articles/s41586-023-06045-0Test

المؤلفون: Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Aguet, François, Arachchi, Harindra M., Austin-Tse, Christina A., Babb, Larry, Baxter, Samantha M., Brand, Harrison, Chang, Jaime, Chao, Katherine R., Collins, Ryan L., Cummings, Beryl, Delano, Kayla, DiTroia, Stephanie P., England, Eleina, Evangelista, Emily, Everett, Selin, Francioli, Laurent C., Fu, Jack, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Goodrich, Julia K., Gudmundsson, Sanna, Hall, Stacey J., Huang, Yongqing, Jahl, Steve, Laricchia, Kristen M., Larkin, Kathryn E., Lek, Monkol, Lemire, Gabrielle, Lipson, Rachel B., Lovgren, Alysia Kern, MacArthur, Daniel G., Mangilog, Brian E., Mano, Stacy, Marshall, Jamie L., Mullen, Thomas E., Nguyen, Kevin K., O’Heir, Emily, O’Leary, Melanie C., Osei-Owusu, Ikeoluwa A., de Acha Chavez, Jorge Perez, Pierce-Hoffman, Emma, Rehm, Heidi L., Serrano, Jillian

المساهمون: Department of Health | National Health and Medical Research Council, Hospital Research Foundation, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

المصدر: Nature Medicine ; volume 30, issue 1, page 302-302 ; ISSN 1078-8956 1546-170X

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1038/s41591-023-02487-1Test
https://www.nature.com/articles/s41591-023-02487-1.pdfTest
https://www.nature.com/articles/s41591-023-02487-1Test

المؤلفون: Guo, Michael H., Francioli, Laurent C., Stenton, Sarah L., Goodrich, Julia K., Watts, Nicholas A., Singer-Berk, Moriel, Groopman, Emily, Darnowsky, Philip W., Solomonson, Matthew, Baxter, Samantha, Abreu, Maria, Salinas, Carlos A. Aguilar, Ahmad, Tariq, Albert, Christine M., Alföldi, Jessica, Ardissino, Diego, Armean, Irina M., Atzmon, Gil, Banks, Eric, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Bergelson, Louis, Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Brant, Steven, Calvo, Sarah E., Campos, Hannia, Chambers, John C., Chan, Juliana C., Chao, Katherine R., Chapman, Sinéad, Chasman, Daniel, Chen, Siwei, Chisholm, Rex L., Cho, Judy, Chowdhury, Rajiv, Chung, Mina K., Chung, Wendy K., Cibulskis, Kristian, Cohen, Bruce, Collins, Ryan L., Connolly, Kristen M., Correa, Adolfo, Covarrubias, Miguel

المساهمون: U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

المصدر: Nature Genetics ; volume 56, issue 1, page 152-161 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/s41588-023-01608-3Test
https://www.nature.com/articles/s41588-023-01608-3.pdfTest
https://www.nature.com/articles/s41588-023-01608-3Test

المؤلفون: Baxter, Samantha M, Posey, Jennifer E, Lake, Nicole J, Sobreira, Nara, Chong, Jessica X, Buyske, Steven, Blue, Elizabeth E, Chadwick, Lisa H, Coban-Akdemir, Zeynep H, Doheny, Kimberly F, Davis, Colleen P, Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N, Gerstein, Mark, Gibbs, Richard A, Lifton, Richard P, MacArthur, Daniel G, Matise, Tara C, Lupski, James R, Valle, David, Bamshad, Michael J, Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A, Rehm, Heidi L, O'Donnell-Luria, Anne

المصدر: Journal Articles

مصطلحات موضوعية: Exome, Genetic Association Studies, Genomics, Humans, Phenotype, Exome Sequencing, Genetics and Genomics, Life Sciences, Medicine and Health Sciences, Public Health

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/uthsph_docs/145Test; https://digitalcommons.library.tmc.edu/context/uthsph_docs/article/1138/viewcontent/nihms_1790550.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/uthsph_docs/145Test
https://digitalcommons.library.tmc.edu/context/uthsph_docs/article/1138/viewcontent/nihms_1790550.pdfTest

المؤلفون: Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alfoldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O'Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J., Abreu, Maria, Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Armean, Irina M., Atkinson, Elizabeth G., Atzmon, Gil, Barnard, John, Baxter, Samantha M., Beaugerie, Laurent, Benjamin, Emelia J., Benjamin, David, Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Brand, Harrison, Brant, Steven, Brookings, Ted, Bryant, Sam, Calvo, Sarah E., Campos, Hannia, Chambers, John C., Chan, Juliana C., Chao, Katherine R., Chapman, Sinead, Chasman, Daniel I., Chisholm, Rex, Cho, Judy, Chowdhury, Rajiv, Chung, Mina K., Chung, Wendy K., Cibulskis, Kristian, Cohen, Bruce, Connolly, Kristen M., Correa, Adolfo, Cummings, Beryl B., Dabelea, Dana, Danesh, John, Darbar, Dawood, Darnowsky, Phil, Denny, Joshua, Duggirala, Ravindranath, Dupuis, Josee, Ellinor, Patrick T., Elosua, Roberto, Emery, James, England, Eleina, Erdmann, Jeanette, Esko, Tonu, Evangelista, Emily, Fatkin, Diane, Florez, Jose, Franke, Andre, Fu, Jack, Farkkila, Martti, Garimella, Kiran, Gentry, Jeff, Getz, Gad, Glahn, David C., Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Gudmundsson, Sanna, Haessly, Andrea, Haiman, Christopher, Hall, Ira, Hanis, Craig L., Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Jalas, Chaim, Kallela, Mikko, Kaplan, Diane, Kaprio, Jaakko, Kathiresan, Sekar, Kenny, Eimear E., Kim, Bong-Jo, Kim, Young Jin, King, Daniel, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lake, Nicole, Langsford, Trevyn, Laricchia, Kristen M., Lehtimaki, Terho, Lek, Monkol, Lipscomb, Emily, Loos, Ruth J. F., Lu, Wenhan, Lubitz, Steven A., Tusie Luna, Teresa, Ma, Ronald C. W., Marcus, Gregory M., Marrugat, Jaume, Mattila, Kari M., McCarroll, Steven, McCarthy, Mark I., McCauley, Jacob L., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Meyers, Deborah, Minikel, Eric V., Mitchell, Braxton D., Mootha, Vamsi K., Naheed, Aliya, Nazarian, Saman, Nilsson, Peter M., O'Donovan, Michael C., Okada, Yukinori, Ongur, Dost, Orozco, Lorena, Owen, Michael J., Palmer, Colin, Palmer, Nicholette D., Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rader, Dan, Rahman, Nazneen, Reiner, Alex, Remes, Anne M., Rhodes, Dan, Rich, Stephen, Rioux, John D., Ripatti, Samuli, Roden, Dan M., Rotter, Jerome I., Sahakian, Nareh, Saleheen, Danish, Salomaa, Veikko, Saltzman, Andrea, Samani, Nilesh J., Samocha, Kaitlin E., Sanchis-Juan, Alba, Scharf, Jeremiah, Schleicher, Molly, Schunkert, Heribert, Schoenherr, Sebastian, Seaby, Eleanor G., Shah, Svati H., Shand, Megan, Sharpe, Ted, Shoemaker, Moore B., Shyong, Tai, Silverman, Edwin K., Singer-Berk, Moriel, Sklar, Pamela, Smith, Jonathan T., Smith, J. Gustav, Soininen, Hilkka, Sokol, Harry, Son, Rachel G., Soto, Jose, Spector, Tim, Stevens, Christine, Stitziel, Nathan O., Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Taylor, Kent D., Teo, Yik Ying, Tsuang, Ming, Tuomi, Tiinamaija, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis, Wang, Lily, Wang, Arcturus, Ware, James S., Watkins, Hugh, Weersma, Rinse K., Weisburd, Ben, Wessman, Maija, Whiffin, Nicola, Wilson, James G., Xavier, Ramnik J.

المصدر: WOS ; WOS:001136836700004

وصف الملف: 92-100

العلاقة: NATURE; 7993; 625; https://www.julkari.fi/handle/10024/148349Test

الإتاحة: https://www.julkari.fi/handle/10024/148349Test

المؤلفون: Pugh, Trevor J., Kelly, Melissa A., Gowrisankar, Sivakumar, Hynes, Elizabeth, Seidman, Michael A., Baxter, Samantha M., Bowser, Mark, Harrison, Bryan, Aaron, Daniel, Mahanta, Lisa M., Lakdawala, Neal K., McDermott, Gregory, White, Emily T., Rehm, Heidi L., Lebo, Matthew, Funke, Birgit H.

المصدر: Genetics in Medicine ; volume 16, issue 8, page 601-608 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/gim.2013.204Test
http://www.nature.com/articles/gim2013204.pdfTest
http://www.nature.com/articles/gim2013204Test
https://api.elsevier.com/content/article/PII:S1098360021048851?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021048851?httpAccept=text/plainTest

المؤلفون: Pais, Lynn S., Snow, Hana, Weisburd, Ben, Zhang, Shifa, Baxter, Samantha M., DiTroia, Stephanie, O'Heir, Emily, England, Eleina, Chao, Katherine R., Lemire, Gabrielle, Osei‐Owusu, Ikeoluwa, VanNoy, Grace E., Wilson, Michael, Nguyen, Kevin, Arachchi, Harindra, Phu, William, Solomonson, Matthew, Mano, Stacy, O'Leary, Melanie, Lovgren, Alysia

المصدر: Human Mutation; Jun2022, Vol. 43 Issue 6, p698-707, 10p