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Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping Kanagal-Shamanna, R; Puiggros, A; Granada, I; Raca, G; Rack, K; Mallo, M; Dewaele, B; Smith, AC; Akkari, Y; Levy, B; Hasserjian, RP; Cisneros, A; Salido, M; Garcia-Manero, G; Yang, H; Iqbal, MA; Kolhe, R; Solé, F; Espinet, B Share Save
Signi fi cance Associated with Phenotype Score Aids in Variant Prioritization for Exome Lee, Brian; Nasanovsky, Lily; Shen, Lishuang; Maglinte, Dennis T.; Pan, Yachen; Gai, Xiaowu; Schmidt, Ryan J.; Raca, Gordana; Biegel, Jaclyn A.; Roytman, Megan; An, Paul; Saunders, Carol J.; Farrow, Emily G.; Shams, Soheil; Ji, Jianling Share Save
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Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma Zhou, Shengmei; Sarabia, Stephen F.; Estrine, Dolores; Ostrow, Dejerianne; Schmidt, Ryan J.; Warren, Mikako; Raca, Gordana; Shillingford, Nick; Wang, Larry; Pawel, Bruce; Stein, James E.; Biegel, Jaclyn A.; Lopez-Terrada, Dolores; Mascarenhas, Leo; Ji, Jianling Share Save
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors Buckley, Jonathan; Schmidt, Ryan J.; Ostrow, Dejerianne; Maglinte, Dennis; Bootwalla, Moiz; Ruble, David; Govindarajan, Ananthanarayanan; Ji, Jianling; Kovach, Alexandra E.; Orgel, Etan; Raca, Gordana; Navid, Fariba; Mascarenhas, Leo; Pawel, Bruce; Robison, Nathan; Gai, Xiaowu; Biegel, Jaclyn A. Share Save
A framework for the clinical implementation of optical genome mapping in hematologic malignancies Levy, Brynn; Kanagal-Shamanna, Rashmi; Sahajpal, Nikhil S.; Neveling, Kornelia; Rack, Katrina; Dewaele, Barbara; Weghuis, Daniel Olde; Stevens-Kroef, Marian; Puiggros, Anna; Mallo, Mar; Clifford, Benjamin; Mantere, Tuomo; Hoischen, Alexander; Espinet, Blanca; Kolhe, Ravindra; Sole, Francesc; Raca, Gordana; Smith, Adam C. Share Save
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Hu, Zunsong; Kovach, Alexandra E.; Yellapantula, Venkata; Ostrow, Dejerianne; Doan, Andrew; Ji, Jianling; Schmidt, Ryan J.; Gu, Zhaohui; Bhojwani, Deepa; Raca, Gordana Share Save
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Analytic Validation of Optical Genome Mapping in Hematological Malignancies Pang, Andy W. C.; Kosco, Karena; Sahajpal, Nikhil S.; Sridhar, Arthi; Hauenstein, Jen; Clifford, Benjamin; Estabrook, Joey; Chitsazan, Alex D.; Sahoo, Trilochan; Iqbal, Anwar; Kolhe, Ravindra; Raca, Gordana; Hastie, Alex R.; Chaubey, Alka Share Save
Response to Spurdle et al Riggs, Erin R.; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa L. Share Save
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Raca, Gordana; Astbury, Caroline; Behlmann, Andrea; De Castro, Mauricio J.; E. Hickey, Scott; Karaca, Ender; Lowther, Chelsea; Rooney Riggs, Erin; A. Seifert, Bryce; C. Thorland, Erik; Deignan, Joshua L. Share Save
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew Share Save
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