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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females Bier, Caide; Dickey, Kaelin; Bibb, Brittan; Crutcher, Angela; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Davis-Keppen, Laura; Matthes, Cindy; Tharp, Michelle; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Lah, Melissa; Mcnutt, Markey; Andersson, Hans C. Share Save
First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up Wang, Raymond Y.; Movsesyan, Nina; Kan, Shih-hsin; Beydoun, Tammam; Taylor, Mery; Chang, Richard C.; Phillips, Dawn; Burke, Jenna; Gilmor, Michelle; Cho, Yoonjin; Falabella, Paulo; Pisani, Laura Share Save
BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM Beltran, Carlos Mares; Abdenur, Jose; Chang, Richard; Barrick, Rebekah; Spongberg, Rebecca; Tise, Christina G.; Niehaus, Annie D.; Enns, Gregory Share Save
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes Flex, Elisabetta; Albadri, Shahad; Radio, Francesca Clementina; Cecchetti, Serena; Lauri, Antonella; Priolo, Manuela; Kissopoulos, Marta; Carpentieri, Giovanna; Fasano, Giulia; Venditti, Martina; Magliocca, Valentina; Bellacchio, Emanuele; Welch, Carrie L.; Colombo, Paolo C.; Kochav, Stephanie M.; Chang, Richard; Barrick, Rebekah; Trivisano, Marina; Micalizzi, Alessia; Borghi, Rossella; Messina, Elena; Mancini, Cecilia; Pizzi, Simone; De Santis, Flavia; Rosello, Marion; Specchio, Nicola; Compagnucci, Claudia; McWalter, Kirsty; Chung, Wendy K.; Del Bene, Filippo; Tartaglia, Marco Share Save
Safety of liver biopsy in patients with sickle cell related liver disease: A single-center experience Vittal, Anusha; Alao, Hawwa; Hercun, Julian; Sharma, Bashar; Khan, Arsalan; Sharma, Disha; Lee, Wilson; Kapuria, Devika; Hsieh, Matthew; Tisdale, John; Fitzhugh, Courtney; Kleiner, David; Levy, Elliot; Chang, Richard; Conrey, Anna; Rivera, Elenita; Huang, Amy; Yakov, Gil Ben; Kato, Gregory J.; Gladwin, Mark T.; Thein, Swee Lay; Koh, Christopher; Heller, Theo Share Save
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A.; Scott, Daniel J.; Ziarek, Joshua J.; Gordon, Sarah L.; Baker, Kate Share Save
Durable virological response and functional cure of chronic hepatitis D after long-term peginterferon therapy Hercun, Julian; Kim, Grace E.; Da, Ben L.; Rotman, Yaron; Kleiner, David E.; Chang, Richard; Glenn, Jeffrey S.; Hoofnagle, Jay H.; Koh, Christopher; Heller, Theo Share Save
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel Share Save
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes Simon, Mariella T.; Eftekharian, Shaya S.; Stover, Alexander E.; Osborne, Aaron F.; Braffman, Bruce H.; Chang, Richard C.; Wang, Raymond Y.; Steenari, Maija R.; Tang, Sha; Hwu, Paul Wuh-Liang; Taft, Ryan J.; Benke, Paul J.; Abdenur, Jose E. Share Save
Multimodality Image-Guided Cryoablation for Inoperable Tumor-Induced Osteomalacia Tella, Sri Harsha; Amalou, Hayet; Wood, Bradford J.; Chang, Richard; Chen, Clara C.; Robinson, Cemre; Millwood, Michelle; Guthrie, Lori C.; Xu, Sheng; Levy, Elliot; Krishnasamy, Venkatesh; Gafni, Rachel I.; Collins, Michael T. Share Save
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency Simon, Mariella T.; Ng, Bobby G.; Friederich, Marisa W.; Wang, Raymond Y.; Boyer, Monica; Kircher, Martin; Collard, Renata; Buckingham, Kati J.; Chang, Richard; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Van Hove, Johan L. K.; Freeze, Hudson H.; Abdenur, Jose E. Share Save
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion Stiles, Ashlee R.; Simon, Mariella T.; Stover, Alexander; Eftekharian, Shaya; Khanlou, Negar; Wang, Hanlin L.; Magaki, Shino; Lee, Hane; Partynski, Kate; Dorrani, Nagmeh; Chang, Richard; Martinez-Agosto, Julian A.; Abdenur, Jose E. Share Save
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome Simon, Mariella; Richard, Elodie M.; Wang, Xinjian; Shahzad, Mohsin; Huang, Vincent H.; Qaiser, Tanveer A.; Potluri, Prasanth; Mahl, Sarah E.; Davila, Antonio; Nazli, Sabiha; Hancock, Saege; Yu, Margret; Gargus, Jay; Chang, Richard; Al-sheqaih, Nada; Newman, William G.; Abdenur, Jose; Starr, Arnold; Hegde, Rashmi; Dorn, Thomas; Busch, Anke; Park, Eddie; Wu, Jie; Schwenzer, Hagen; Flierl, Adrian; Florentz, Catherine; Sissler, Marie; Khan, Shaheen N.; Li, Ronghua; Guan, Min-Xin; Friedman, Thomas B.; Wu, Doris K.; Procaccio, Vincent; Riazuddin, Sheikh; Wallace, Douglas C.; Ahmed, Zubair M.; Huang, Taosheng; Riazuddin, Saima Share Save
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Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation Lieu, Michelle T.; Ng, Bobby G.; Rush, Jeffrey S.; Wood, Tim; Basehore, Monica J.; Hegde, Madhuri; Chang, Richard C.; Abdenur, Jose E.; Freeze, Hudson H.; Wang, Raymond Y. Share Save
Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation Miyake, Noriko; Yano, Shoji; Sakai, Chika; Hatakeyama, Hideyuki; Matsushima, Yuichi; Shiina, Masaaki; Watanabe, Yoriko; Bartley, James; Abdenur, Jose E.; Wang, Raymond Y.; Chang, Richard; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Goto, Yu-ichi; Matsumoto, Naomichi Share Save
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