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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Briere, Lauren C. ; Acosta, Maria T. ; Andrews, Ashley ; Ashley, Euan A. ; Bacino, Carlos A. ; Bale, Jim ; Barbouth, Deborah ; Bennett, Jimmy ; Bivona, Stephanie ; Blue, Elizabeth ; Burke, Elizabeth A. ; Byers, Peter ; Peter Chang, Ta Chen ; Chanprasert, Sirisak ; Coakley, Terra R. ; Cogan, Joy D. ; Colley, Heather A. ; Cope, Heidi ; Craigen, William J. ; Cunningham, Michael ; Dasari, Surendra ; Dell'Angelica, Esteban C. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Earl, Dawn ; Eng, Christine M. ; Fisher, Paul G. ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Hamid, Rizwan ; Hayes, Nichole ; Horike-Pyne, Martha ; Isasi, Rosario ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Jobanputra, Vaidehi ; Kiley, Dana ; Kohler, Jennefer N. ; Korrick, Susan ; Lalani, Seema R. ; Lam, Byron ; Lanpher, Brendan C. ; LeBlanc, Kimberly ; Levitt, Roy ; Lewis, Richard A. ; Liu, Pengfei ; Liu, Xue Zhong ; Longo, Nicola ; Maas, Richard L. ; Macnamara, Ellen F. ; Mao, Rong ; Marom, Ronit ; Martin, Beth A. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; Miller, Danny ; Morava, Eva ; Moretti, Paolo ; Novacic, Donna ; Orengo, James P. ; Pallais, J. Carl ; Phillips, John A. ; Posey, Jennifer E. ; Potocki, Lorraine ; Raskind, Wendy ; Robertson, Amy K. ; Rosenfeld, Jill A. ; Rossignol, Francis ; Ruzhnikov, Maura ; Schaechter, Judy ; Sisco, Kathy ; Solnica-Krezel, Lilianna ; Solomon, Ben ; Spillmann, Rebecca C. ; Stergachis, Andrew ; Sullivan, Kathleen ; Sweetser, David A. ; Sybert, Virginia ; Tabor, Holly K. ; Tarakad, Arjun ; Thorson, Willa ; Vanderver, Adeline ; Velinder, Matt ; Walley, Nicole M. ; Wambach, Jennifer ; Wan, Jijun ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wenger, Tara ; Wheeler, Matthew T. ; Yang, John ; Zhang, Zhe ; Zuchner, Stephan

Genetics in medicine, 2024-06, Vol.26 (6), p.101115, Article 101115 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Zastrow, Diane ; Baugh, Evan ; Wheeler, Matthew T. ; Bernstein, Jonathan A. ; Acosta, Maria T. ; Adam, Margaret ; Amendola, Laura ; Andrews, Ashley ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baldridge, Dustin ; Bale, Jim ; Barbouth, Deborah ; Beck, Anita ; Bennet, Jimmy ; Bernstein, Jonathan A. ; Bivona, Stephanie ; Blue, Elizabeth ; Brokamp, Elly ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byers, Peter ; Carey, John ; Cassini, Thomas ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Cooper, Cynthia M. ; Dasari, Surendra ; Dayal, Jyoti G. ; Doherty, Daniel ; Dorrani, Naghmeh ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Fogel, Brent L. ; Forghani, Irman ; Gochuico, Bernadette ; Golden-Grant, Katie ; Grajewski, Alana ; Gutierrez, Irma ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; Hom, Jason ; Horike-Pyne, Martha ; Huang, Alden ; Huang, Yong ; Introne, Wendy ; Jarvik, Jeffrey ; Jobanputra, Vaidehi ; Karaviti, Lefkothea ; Kiley, Dana ; Kobren, Shilpa N. ; Krasnewich, Donna M. ; Levitt, Roy ; Maduro, Valerie V. ; Malicdan, May Christine V. ; Mao, Rong ; Maravilla, Kenneth ; Marom, Ronit ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Merritt, J. Lawrence ; Moretti, Paolo M. ; Newman, John H. ; Nieves-Rodriguez, Shirley ; Novacic, Donna ; Oglesbee, Devin ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Papp, Jeanette C. ; Parker, Neil H. ; Quinlan, Aaron ; Renteria, Genecee ; Rives, Lynette ; Rodan, Lance H. ; Scott, C. Ron ; Scott, Daryl A. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Sutton, Shirley ; Tan, Queenie K.-G. ; Telischi, Fred ; Toro, Camilo ; Urv, Tiina K. ; Wahl, Colleen E. ; Walker, Melissa ; Wallace, Stephanie ; Wang, Lee-kai ; Wangler, Michael F. ; Westerfield, Monte ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Zuchner, Stephan

Genetics in medicine, 2023-04, Vol.25 (4), p.100353-100353, Article 100353 [Periódico revisado por pares]

United States: Elsevier Inc

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