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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline Share Save
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Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy Duncan, Christine N.; Bledsoe, Jacob R.; Grzywacz, Bartosz; Beckman, Amy; Bonner, Melissa; Eichler, Florian S.; Kuhl, Joern-Sven; Harris, Marian H.; Slauson, Sarah; Colvin, Richard A.; Prasad, Vinod K.; Downey, Gerald F.; Pierciey, Francis J.; Kinney, Melissa A.; Foos, Marianna; Lodaya, Ankit; Floro, Nicole; Parsons, Geoffrey; Dietz, Andrew C.; Gupta, Ashish O.; Orchard, Paul J.; Thakar, Himal L.; Williams, David A. Share Save
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy Eichler, Florian; Duncan, Christine N.; Musolino, Patricia L.; Lund, Troy C.; Gupta, Ashish O.; De Oliveira, Satiro; Thrasher, Adrian J.; Aubourg, Patrick; Kuehl, Joern-Sven; Loes, Daniel J.; Amartino, Hernan; Smith, Nicholas; Fernandes, Juliana Folloni; Sevin, Caroline; Sankar, Raman; Hussain, Shaun A.; Gissen, Paul; Dalle, Jean-Hugues; Platzbecker, Uwe; Downey, Gerald F.; McNeil, Elizabeth; Demopoulos, Laura; Dietz, Andrew C.; Thakar, Himal L.; Orchard, Paul J.; Williams, David A. Share Save
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy Kornbluh, Alexandra B.; Baldwin, Aaron; Fatemi, Ali; Vanderver, Adeline; Adang, Laura A.; Van Haren, Keith; Sampson, Jacinda; Eichler, Florian S.; Sadjadi, Reza; Engelen, Marc; Orthmann-Murphy, Jennifer L. Share Save
Systemic complications of Aicardi Goutieres syndrome using real-world data de Barcelos, Isabella Peixoto; Jan, Amanda K.; Modesti, Nicholson; Woidill, Sarah; Gavazzi, Francesco; Isaacs, David; D'Aiello, Russell; Sevagamoorthy, Anjana; Charlton, Lauren; Pizzino, Amy; Schmidt, Johanna; van Haren, Keith; Keller, Stephanie; Eichler, Florian; Emrick, Lisa T.; Fraser, Jamie L.; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases da Silva, Joana Ferreira; Tou, Connor J.; King, Emily M.; Eller, Madeline L.; Rufino-Ramos, David; Ma, Linyuan; Cromwell, Christopher R.; Metovic, Jasna; Benning, Friederike M. C.; Chao, Luke H.; Eichler, Florian S.; Kleinstiver, Benjamin P. Share Save
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Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses Kissell, Julie; Rochmann, Camille; Minini, Pascal; Eichler, Florian; Stephen, Christopher D.; Lau, Heather; Toro, Camilo; Johnston, Jean M.; Krupnick, Robert; Hamed, Alaa; Cox, Gerald F. Share Save
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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save
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