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Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency Wasserstein, Melissa; Gallagher, Renata C.; Barbato, Antonio; Guigliani, Roberto; Guelbert, Norberto; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Armstrong, Nicole M.; Srivastav, Shruti; Wisniewska, Urszula; Kumar, Monica Share Save
A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2-A clinical update from the PROVIDE trial Neuhaus, Sarah; Tamburri, Paul; Whitley, Chester B.; Jones, Simon A.; Donald, Aimee; Harmatz, Paul; Blair, David R.; Chang, Irene; Gallagher, Renata C.; Rajan, Deepa S.; Goker-Alpan, Ozlem; Beckerman, Yael; Lopez, Victor A.; Hatch, Daniel; Shaughnessy, Lee Share Save
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial Wasserstein, Melissa P.; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Yarramaneni, Abhimanyu; Armstrong, Nicole M.; Kim, Yong; Kumar, Monica Share Save
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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency Koleske, Megan L.; McInnes, Gregory; Brown, Julia E. H.; Thomas, Neil; Hutchinson, Keino; Chin, Marcus Y.; Koehl, Antoine; Arkin, Michelle R.; Schlessinger, Avner; Gallagher, Renata C.; Song, Yun S.; Altman, Russ B.; Giacomini, Kathleen M. Share Save
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results Wasserstein, Melissa; Lachmann, Robin; Hollak, Carla; Arash-Kaps, Laila; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Eubekir; Tchan, Michel; Villarrubia, Jesus; Chen, Yixin; Furey, Sandy; Thurberg, Beth L.; Zaher, Atef; Kumar, Monica Share Save
Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial Wasserstein, Melissa; Barbato, Antonio; Gallagher, Renata; Giugliani, Roberto; Guelbert, Norberto; Hennermann, Julia; Hollak, Carla; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth; Yarramaneni, Abhimanyu; Rawlings, Andreea; Kim, Yong; Kumar, Monica Share Save
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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes McInnes, Gregory; Sharo, Andrew G.; Koleske, Megan L.; Brown, Julia E. H.; Norstad, Matthew; Adhikari, Aashish N.; Wang, Sheng; Brenner, Steven E.; Halpern, Jodi; Koenig, Barbara A.; Magnus, David C.; Gallagher, Renata C.; Giacomini, Kathleen M.; Altman, Russ B. Share Save
In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial Schwab, Marisa E.; Cohen, Jennifer L.; Lianoglou, Billie; Gallagher, Renata C.; Gonzalez-Velez, Juan M.; Sparks, Teresa N.; Norton, Mary E.; Gelb, Michael H.; Wood, Tim; Kishnani, Priya S.; Harmatz, Paul R.; MacKenzie, Tippi C. Share Save
The role of exome sequencing in newborn screening for inborn errors of metabolism Adhikari, Aashish N.; Gallagher, Renata C.; Wang, Yaqiong; Currier, Robert J.; Amatuni, George; Bassaganyas, Laia; Chen, Flavia; Kundu, Kunal; Kvale, Mark; Mooney, Sean D.; Nussbaum, Robert L.; Randi, Savanna S.; Sanford, Jeremy; Shieh, Joseph T.; Srinivasan, Rajgopal; Sunderam, Uma; Tang, Hao; Vaka, Dedeepya; Zou, Yangyun; Koenig, Barbara A.; Kwok, Pui-Yan; Risch, Neil; Puck, Jennifer M.; Brenner, Steven E. Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing Adhikari, Aashish N.; Currier, Robert J.; Tang, Hao; Turgeon, Coleman T.; Nussbaum, Robert L.; Srinivasan, Rajgopal; Sunderam, Uma; Kwok, Pui-Yan; Brenner, Steven E.; Gavrilov, Dimitar; Puck, Jennifer M.; Gallagher, Renata Share Save
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HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis Sparks, Teresa N.; Lianoglou, Billie R.; Patel, Sachi; Adami, Rebecca; Rangwala, Naseem; Pluym, Ilina D.; Holliman, Kerry; Downum, Sarah; Amezcua, Jessica; Boe, Nina M.; Field, Nancy T.; Gallagher, Renata; Laurent, Louise C.; MacKenzie, Tippi C.; Murphy, Aisling M.; Sanders, Stephan; Slavotinek, Anne M.; Norton, Mary E. Share Save
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder Friederich, Marisa W.; Timal, Sharita; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Bratkovic, Drago; Derks, Terry G. J.; Bick, David; Bouman, Katelijne; Chatfield, Kathryn C.; Damouny-Naoum, Nadine; Dishop, Megan K.; Falik-Zaccai, Tzipora C.; Fares, Fuad; Fedida, Ayalla; Ferrero, Ileana; Gallagher, Renata C.; Garesse, Rafael; Gilberti, Micol; Gonzalez, Cristina; Gowan, Katherine; Habib, Clair; Halligan, Rebecca K.; Kalfon, Limor; Knight, Kaz; Lefeber, Dirk; Mamblona, Laura; Mandel, Hanna; Mory, Adi; Ottoson, John; Paperna, Tamar; Pruijn, Ger J. M.; Rebelo-Guiomar, Pedro F.; Saada, Ann; Sainz, Bruno, Jr.; Salvemini, Hayley; Schoots, Mirthe H.; Smeitink, Jan A.; Szukszto, Maciej J.; ter Horst, Hendrik J.; van den Brandt, Frans; van Spronsen, Francjan J.; Veltman, Joris A.; Wartchow, Eric; Wintjes, Liesbeth T.; Zohar, Yaniv; Fernandez-Moreno, Miguel A.; Baris, Hagit N.; Donnini, Claudia; Minczuk, Michal; Rodenburg, Richard J.; Van Hove, Johan L. K. Share Save
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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors Schillaci, Lori-Anne P.; Greene, Carol L.; Strovel, Erin; Rispoli-Joines, Jessica; Spector, Elaine; Woontner, Michael; Scharer, Gunter; Enns, Gregory M.; Gallagher, Renata; Zinn, Arthur B.; McCandless, Shawn E.; Hoppel, Charles L.; Goodman, Stephen I.; Bedoyan, Jirair K. Share Save
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