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1by Turner, Tychele N., Hormozdiari, Fereydoun, Duyzend, Michael H., McClymont, Sarah A., Hook, Paul W., Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A., Zody, Michael C., Nelson, Bradley J., Huddleston, John, Sandstrom, Richard, Smith, Joshua D., Hanna, David, Swanson, James M., Faustman, Elaine M., Bamshad, Michael J., Stamatoyannopoulos, John, Nickerson, Deborah A., McCallion, Andrew S., Darnell, Robert, Eichler, Evan E.Get full text
Published in American journal of human genetics
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4by Norton, Nadine, Li, Duanxiang, Rieder, Mark J., Siegfried, Jill D., Rampersaud, Evadnie, Züchner, Stephan, Mangos, Steve, Gonzalez-Quintana, Jorge, Wang, Libin, McGee, Sean, Reiser, Jochen, Martin, Eden, Nickerson, Deborah A., Hershberger, Ray E.Get full text
Published in American journal of human genetics
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5by Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, Milewicz, Dianna M.Get full text
Published in American journal of human genetics
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7by LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, KatiaGet full text
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8by Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.Get full text
Published in American journal of human genetics
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9by Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.Get full text
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10by Itsara, Andy, Cooper, Gregory M., Baker, Carl, Girirajan, Santhosh, Li, Jun, Absher, Devin, Krauss, Ronald M., Myers, Richard M., Ridker, Paul M., Chasman, Daniel I., Mefford, Heather, Ying, Phyllis, Nickerson, Deborah A., Eichler, Evan E.Get full text
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11by Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Santos-Cortez, Regie L., Zhao, Ren, Cai, Bo, Veeraraghavan, Sudha, Prakash, Siddharth K., Johnson, Ralph J., Muilenburg, Ann, Willing, Marcia, Jondeau, Guillaume, Boileau, Catherine, Pannu, Hariyadarshi, Moran, Rocio, Debacker, Julie, Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Leal, Suzanne M., Raman, C.S., Swindell, Eric C., Milewicz, Dianna M.Get full text
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14by Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddharth K., Leal, Suzanne M., Bamshad, Michael J., Nickerson, Deborah A., Natowicz, Marvin, Rifkin, Daniel B., Milewicz, Dianna M.Get full text
Published in American journal of human genetics
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17by Van De Weghe, Julie C., Rusterholz, Tamara D.S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Dobyns, William B., Alkuraya, Fowzan S., Roepman, Ronald, Bachmann-Gagescu, Ruxandra, Doherty, DanGet full text
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18by Allenspach, Eric J, Soveg, Frank, Finn, Laura S, So, Lomon, Gorman, Jacquelyn A, Rosen, Aaron B I, Skoda-Smith, Suzanne, Wheeler, Marsha M, Barrow, Kaitlyn A, Rich, Lucille M, Debley, Jason S, Bamshad, Michael J, Nickerson, Deborah A, Savan, Ram, Torgerson, Troy R, Rawlings, David JGet full text
Published in The Journal of experimental medicine
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19Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndromeby Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.Get full text
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20by Meitlis, Iana, Allenspach, Eric J., Bauman, Bradly M., Phan, Isabelle Q., Dabbah, Gina, Schmitt, Erica G., Camp, Nathan D., Torgerson, Troy R., Nickerson, Deborah A., Bamshad, Michael J., Hagin, David, Luthers, Christopher R., Stinson, Jeffrey R., Gray, Jessica, Lundgren, Ingrid, Church, Joseph A., Butte, Manish J., Jordan, Mike B., Aceves, Seema S., Schwartz, Daniella M., Milner, Joshua D., Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A., Starita, Lea M., Rawlings, David J., Snow, Andrew L., James, Richard G.Get full text
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