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The impact of clinical genome sequencing in a global population with suspected rare genetic disease Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; del Campo, Miguel; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Pena; Lumaka, Aime; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D.; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S.; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E.; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S.; Perry, Denise L.; Belmont, John; Taft, Ryan J. 分享 收藏
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Recommendations for whole genome sequencing in diagnostics for rare diseases Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M. 分享 收藏
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Best practices for the interpretation and reporting of clinical genome sequencing Austin-Tse, Chrissy; Jobanputra, Vaidehi; Perry, Denise; Bick, David; Taft, Ryan; Venner, Eric; Gibbs, Richard; Young, Ted; Barnett, Sarah; Belmont, John; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna (Kasia); Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David; Rehman, Atteeq; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton; Rehm, Heidi 分享 收藏
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease A Randomized Clinical Trial Krantz, Ian D.; Medne, Livija; Weatherly, Jamila M.; Wild, Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P.; Abdul-Rahman, Omar; Euteneuer, Joshua C.; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adamj.; Vargas-Shiraishi, Ofelia M.; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A.; Baldridge, Dustin; Cole, F. Sessions; Wegner, Daniel J.; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J.; Pivnick, Eniko K.; Ward, Jewell C.; Talati, Ajay; Brown, Chester W.; Belmont, Johnw.; Ortega, Julia L.; Robinson, Keisha D.; Brocklehurst, W. Tyler; Perry, Denise L.; Ajay, Subramanian S.; Hagelstrom, R. Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J. 分享 收藏
Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort 儿童急性淋巴细胞白血病成年幸存者体重指数的遗传变异: 来自儿童癌症幸存者研究和圣犹大终生队列的报告 Richard, Melissa A.; Brown, Austin L.; Belmont, John W.; Scheurer, Michael E.; Arroyo, Vidal M.; Foster, Kayla L.; Kern, Kathleen D.; Hudson, Melissa M.; Leisenring, Wendy M.; Okcu, M. Fatih; Sapkota, Yadav; Yasui, Yutaka; Morton, Lindsay M.; Chanock, Stephen J.; Robison, Leslie L.; Armstrong, Gregory T.; Bhatia, Smita; Oeffinger, Kevin C.; Lupo, Philip J.; Kamdar, Kala Y. 分享 收藏
Edematous severe acute malnutrition is characterized by hypomethylation of DNA Schulze, Katharina V.; Swaminathan, Shanker; Howell, Sharon; Jajoo, Aarti; Lie, Natasha C.; Brown, Orgen; Sadat, Roa; Hall, Nancy; Zhao, Liang; Marshall, Kwesi; May, Thaddaeus; Reid, Marvin E.; Taylor-Bryan, Carolyn; Wang, Xueqing; Belmont, John W.; Guan, Yongtao; Manary, Mark J.; Trehan, Indi; McKenzie, Colin A.; Hanchard, Neil A. 分享 收藏
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy Schulze, Katharina, V; Bhatt, Amit; Azamian, Mahshid S.; Sundgren, Nathan C.; Zapata, Gladys E.; Hernandez, Patricia; Fox, Karin; Kaiser, Jeffrey R.; Belmont, John W.; Hanchard, Neil A. 分享 收藏
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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum Emrick, Lisa T.; Rosenfeld, Jill A.; Lalani, Seema R.; Jain, Mahim; Desai, Nilesh K.; Larson, Austin; Kripps, Kimberly; Vanderver, Adeline; Taft, Ryan J.; Bluske, Krista; Perry, Denise; Nagakura, Honey; Immken, LaDonna L.; Burrage, Lindsay C.; Bacino, Carlos A.; Belmont, John W.; Lee, Brendan 分享 收藏
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Gross, Andrew M.; Ajay, Subramanian S.; Rajan, Vani; Brown, Carolyn; Bluske, Krista; Burns, Nicole J.; Chawla, Aditi; Coffey, Alison J.; Malhotra, Alka; Scocchia, Alicia; Thorpe, Erin; Dzidic, Natasa; Hovanes, Karine; Sahoo, Trilochan; Dolzhenko, Egor; Lajoie, Bryan; Khouzam, Amirah; Chowdhury, Shimul; Belmont, John; Roller, Eric; Ivakhno, Sergii; Tanner, Stephen; McEachern, Julia; Hambuch, Tina; Eberle, Michael; Hagelstrom, R. Tanner; Bentley, David R.; Perry, Denise L.; Taft, Ryan J. 分享 收藏
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Genetic architecture of laterality defects revealed by whole exome sequencing Li, Alexander H.; Hanchard, Neil A.; Azamian, Mahshid; D'Alessandro, Lisa C. A.; Coban-Akdemir, Zeynep; Lopez, Keila N.; Hall, Nancy J.; Dickerson, Heather; Nicosia, Annarita; Fernbach, Susan; Boone, Philip M.; Gambin, Tomaz; Karaca, Ender; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N.; Doddapaneni, Harshavardhan; Huy, Jianhong; Dinh, Huyen; Jayaseelan, Joy; Muzny, Donna; Lalani, Seema; Towbin, Jeffrey; Penny, Daniel; Fraser, Charles; Martin, James; Lupski, James R.; Gibbs, Richard A.; Boerwinklels, Eric; Ware, Stephanie M.; Belmont, John W. 分享 收藏
DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study Lupo, Philip J.; Brown, Austin L.; Arroyo, Vidal M.; Kamdar, Kala Y.; Belmont, John W.; Scheurer, Michael E.; Leisenring, Wendy M.; Gramatges, M. Monica; Okcu, M. Fatih; Yasui, Yutaka; Oeffinger, Kevin C.; Robison, Leslie L.; Armstrong, Gregory T.; Bhatia, Smita 分享 收藏
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