المؤلفون: Brown, Kristine E., Everett, Selin, Vitaro, Elizabeth, Bejerano, Shai, Turitz, Amy, Friedman, Alexander M., Mourad, Mirella

المصدر: American Journal of Obstetrics and Gynecology ; volume 230, issue 1, page S421 ; ISSN 0002-9378

الاتاحة: https://doi.org/10.1016/j.ajog.2023.11.816
https://api.elsevier.com/content/article/PII:S0002937823016186?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002937823016186?httpAccept=text/plain

المؤلفون: Brown, Kristine E., Everett, Selin, Vitaro, Elizabeth, Bejerano, Shai, Turitz, Amy, Friedman, Alexander M., Mourad, Mirella

المصدر: American Journal of Obstetrics and Gynecology ; volume 230, issue 1, page S506 ; ISSN 0002-9378

الاتاحة: https://doi.org/10.1016/j.ajog.2023.11.986
https://api.elsevier.com/content/article/PII:S000293782301788X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000293782301788X?httpAccept=text/plain

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 29, issue 1, page 180-189 ; ISSN 1078-8956 1546-170X

الاتاحة: http://dx.doi.org/10.1038/s41591-022-02142-1
https://www.nature.com/articles/s41591-022-02142-1.pdf
https://www.nature.com/articles/s41591-022-02142-1

المؤلفون: Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi, Ullah, Farid, Võsa, Urmo, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Mägi, Reedik, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E., Metspalu, Andres

المصدر: Cell ; volume 185, issue 16, page 3041-3055.e25 ; ISSN 0092-8674

الاتاحة: http://dx.doi.org/10.1016/j.cell.2022.06.036
https://api.elsevier.com/content/article/PII:S0092867422007887?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0092867422007887?httpAccept=text/plain

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

الاتاحة: https://doi.org/10.1038/s41591-023-02487-1
https://www.nature.com/articles/s41591-023-02487-1.pdf
https://www.nature.com/articles/s41591-023-02487-1

المؤلفون: Collins, Ryan, Glessner, Joseph, Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morely, Theodore, Niestroj, Lisa-Marie, Boone, Philip, Everett, Selin, Fu, Jack, Howrigan, Daniel, Karczewski, Konrad, Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin, Trinh, Mi, Ulirsch, Jacob, Ullah, Farid, Võsa, Urmo, Aradhya, Swaroop, Davis, Erica, Finucane, Hilary, Gusella, James, Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin, Sanders, David, Warren, Stephanie, Lal, Dennis, Hodge, Jennelle, Ruderfer, Douglas, Meck, Jeanne, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltan, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael

مصطلحات موضوعية: Genomics, Copy-number variation, Meta-analysis, Dosage sensitivity, Disease association, Genetics, Structural Variation, Data Science

Relation: https://doi.org/10.5281/zenodo.6347672; https://doi.org/10.5281/zenodo.6347673; oai:zenodo.org:6347673

الاتاحة: https://doi.org/10.5281/zenodo.6347673

المؤلفون: Everett, Selin S., Bomback, Miles, Roth, Phil, Goldshtrom, Nimrod, Polin, Richard A., Lyford, Alex, Hays, Thomas

المصدر: Journal of Pediatrics; Oct2024, Vol. 273, pN.PAG-N.PAG, 1p

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., 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, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Rehm, Heidi L., O’Donnell-Luria, Anne

المصدر: Genetics in Medicine; 20220101, Issue: Preprints