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收藏Validation and clinical application of transactivation assays for RUNX1 variant classification
Decker, Melanie; Agarwal, Anupriya; Benneche, Andreas; Churpek, Jane; Duployez, Nicolas; Duvall, Adam; Ernst, Martijn P. T.; Foerster, Alisa; Hoberg-Vetti, Hildegunn; Hofmann, Inga; Nash, Michelle; Raaijmakers, Marc H. G. P.; Tvedt, Tor H. A.; Vlachos, Adrianna; Schlegelberger, Brigitte; Illig, Thomas; Ripperger, Tim 分享 收藏 Hematologic complications with age in Shwachman-Diamond syndromeFurutani, Elissa; Liu, Shanshan; Galvin, Ashley; Steltz, Sarah; Malsch, Maggie M.; Loveless, Sara K.; Mount, Leann; Larson, Jordan H.; Queenan, Kelan; Bertuch, Alison A.; Fleming, Mark D.; Gansner, John M.; Geddis, Amy E.; Hanna, Rabi; Keel, Sioban B.; Lau, Bonnie W.; Lipton, Jeffrey M.; Lorsbach, Robert; Nakano, Taizo A.; Vlachos, Adrianna; Wang, Winfred C.; Davies, Stella M.; Weller, Edie; Myers, Kasiani C.; Shimamura, Akiko 分享 收藏 Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia ConsortiumShimano, Kristin A.; Narla, Anupama; Rose, Melissa J.; Gloude, Nicholas J.; Allen, Steven W.; Bergstrom, Katie; Broglie, Larisa; Carella, Beth A.; Castillo, Paul; de Jong, Jill L. O.; Dror, Yigal; Geddis, Amy E.; Huang, James N.; Lau, Bonnie W.; McGuinn, Catherine; Nakano, Taizo A.; Overholt, Kathleen; Rothman, Jennifer A.; Sharathkumar, Anjali; Shereck, Evan; Vlachos, Adrianna; Olson, Timothy S.; Bertuch, Alison A.; Wlodarski, Marcin W.; Shimamura, Akiko; Boklan, Jessica 分享 收藏 Multisystem inflammatory syndrome in children (MIS-C) and the prothrombotic state: Coagulation profiles and rotational thromboelastometry in a MIS-C cohortAl-Ghafry, Maha; Vagrecha, Anshul; Malik, Marium; Levine, Chana; Uster, Eliza; Aygun, Banu; Appiah-Kubi, Abena; Vlachos, Adrianna; Capone, Christine A.; Rajan, Sujatha; Palumbo, Nancy; Misra, Nilanjana; Mitchell, Elizabeth C.; Wolfe, Lawrence C.; Lipton, Jeffrey M.; Shore-Lesserson, Linda; Acharya, Suchitra S. 分享 收藏 Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome不同的遗传途径定义了shwachman-diamond综合征的恶性前造血与代偿性克隆造血Kennedy, Alyssa L.; Myers, Kasiani C.; Bowman, James; Gibson, Christopher J.; Camarda, Nicholas D.; Furutani, Elissa; Muscato, Gwen M.; Klein, Robert H.; Ballotti, Kaitlyn; Liu, Shanshan; Harris, Chad E.; Galvin, Ashley; Malsch, Maggie; Dale, David; Gansner, John M.; Nakano, Taizo A.; Bertuch, Alison; Vlachos, Adrianna; Lipton, Jeffrey M.; Castillo, Paul; Connelly, James; Churpek, Jane; Edwards, John R.; Hijiya, Nobuko; Ho, Richard H.; Hofmann, Inga; Huang, James N.; Keel, Sioban; Lamble, Adam; Lau, Bonnie W.; Norkin, Maxim; Stieglitz, Elliot; Stock, Wendy; Walkovich, Kelly; Boettcher, Steffen; Brendel, Christian; Fleming, Mark D.; Davies, Stella M.; Weller, Edie A.; Bahl, Christopher; Carter, Scott L.; Shimamura, Akiko; Lindsley, R. Coleman 分享 收藏 Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35AGianferante, D. Matthew; Wlodarski, Marcin W.; Atsidaftos, Evangelia; Da Costa, Lydie; Delaporta, Polyxeni; Farrar, Jason E.; Goldman, Frederick D.; Hussain, Maryam; Kattamis, Antonis; Leblanc, Thierry; Lipton, Jeffrey M.; Niemeyer, Charlotte M.; Pospisilova, Dagmar; Quarello, Paola; Ramenghi, Ugo; Sankaran, Vijay G.; Vlachos, Adrianna; Volejnikova, Jana; Alter, Blanche P.; Savage, Sharon A.; Giri, Neelam 分享 收藏 Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitorsAshley, Ryan J.; Yan, Hongxia; Wang, Nan; Hale, John; Dulmovits, Brian M.; Papoin, Julien; Olive, Meagan E.; Udeshi, Nam Rata D.; Carr, Steven A.; Vlachos, Adrianna; Lipton, Jeffrey M.; Da Costa, Lydie; Hillyer, Christopher; Kinet, Sandrina; Taylor, Naomi; Mohandas, Narla; Narla, Anupama; Blanc, Lionel 分享 收藏 Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study小儿再生障碍性贫血的免疫抑制治疗: 北美小儿再生障碍性贫血协会研究Rogers, Zora R.; Nakano, Taizo A.; Olson, Timothy S.; Bertuch, Alison A.; Wang, Winfred; Gillio, Alfred; Coates, Thomas D.; Chawla, Anjulika; Castillo, Paul; Kurre, Peter; Gamper, Christopher; Bennett, Carolyn M.; Joshi, Sarita; Geddis, Amy E.; Boklan, Jessica; Nalepa, Grzegorz; Rothman, Jennifer A.; Huang, James N.; Kupfer, Gary M.; Cada, Michaela; Glader, Bertil; Walkovich, Kelly J.; Thompson, Alexis A.; Hanna, Rabi; Vlachos, Adrianna; Malsch, Maggie; Weller, Edie A.; Williams, David A.; Shimamura, Akiko 分享 收藏 The Genetic Landscape of Diamond-Blackfan Anemia (vol 103, pg 930, 2018)Ulirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; Narla, Anupama; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Francoise; Montel-Lehry, Nathalie; Amor, David J.; McCarroll, Steven A.; O'Donnell-Luria, Anne H.; Gupta, Namrata; Gabriel, Stacey B.; MacArthur, Daniel G.; Lander, Eric S.; Lek, Monkol; Da Costa, Lydie; Nathan, David G.; Korostelev, Andrei A.; Do, Ron; Sankaran, Vijay G.; Gazda, Hanna T. 分享 收藏 The Genetic Landscape of Diamond-Blackfan AnemiaUlirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; Narla, Anupama; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Francoise; Montel-Lehry, Nathalie; Amor, David J.; McCarroll, Steven A.; O'Donnell-Luria, Anne H.; Gupta, Namrata; Gabriel, Stacey B.; MacArthur, Daniel G.; Lander, Eric S.; Lek, Monkol; Da Costa, Lydie; Nathan, David G.; Korostelev, Andrei K.; Do, Ron; Sankaran, Vijay G.; Gazda, Hanna T. 分享 收藏 分享 收藏 A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia用于Diamond-Blackfan贫血中不确定意义的遗传变异的临床注释的功能测定Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma 分享 收藏 Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population A Report of the Diamond Blackfan Anemia RegistryVlachos, Adrianna; Osorio, Diana S.; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S.; Gruber, Dorota; Glader, Bertil E.; Onel, Kenan; Farrar, Jason E.; Bodine, David M.; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven R.; Lipton, Jeffrey M. 分享 收藏 分享 收藏 分享 收藏 Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosisFarrar, Jason E.; Quarello, Paola; Fisher, Ross; O'Brien, Kelly A.; Aspesi, Anna; Parrella, Sara; Henson, Adrianna L.; Seidel, Nancy E.; Atsidaftos, Eva; Prakash, Supraja; Bari, Shahla; Garelli, Emanuela; Arceci, Robert J.; Dianzani, Irma; Ramenghi, Ugo; Vlachos, Adrianna; Lipton, Jeffrey M.; Bodine, David M.; Ellis, Steven R. 分享 收藏 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemiaLandowski, Michael; O'Donohue, Marie-Francoise; Buros, Christopher; Ghazvinian, Roxanne; Montel-Lehry, Nathalie; Vlachos, Adrianna; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Atsidaftos, Eva; Lipton, Jeffrey M.; Beggs, Alan H.; Gleizes, Pierre-Emmanuel; Gazda, Hanna T. 分享 收藏 分享 收藏 Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaGazda, Hanna T.; Preti, Milena; Sheen, Mee Rie; O'Donohue, Marie-Francoise; Vlachos, Adrianna; Davies, Stella M.; Kattamis, Antonis; Doherty, Leana; Landowski, Michael; Buros, Christopher; Ghazvinian, Roxanne; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Atsidaftos, Eva; Lipton, Jeffrey M.; Gleizes, Pierre-Emmanuel; Beggs, Alan H. 分享 收藏 
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