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Loss of peroxisome function promotes oxidative stress-induced hematopoiesis Schindhelm, Emma A.; Blake, Amada; Constans, Megan M.; Braaten, Kai; Thorn, Aly L.; Durose, Willa; Lorentson, Maggie; Gupta, Ashish O.; Orchard, Paul J.; Braverman, Nancy; Raymond, Gerald, V; Lund, Troy C. Share Save
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders Cheung, Anthony C. T.; Di Pietro, Erminia; Argyriou, Catherine; Bareke, Eric; D'Souza, Yasmin; Puri, Ratna Dua; Shabeer, P. Muhammed; Ganetzky, Rebecca; Goldstein, Amy; Vanderver, Adeline; Mohan, Shruthi; Majewski, Jacek; Yergeau, Christine; Braverman, Nancy Share Save
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience Groopman, Emily; Goldstein, Jenny; Dickson, Alexa; Zastrow, Diane; Mohan, Shruthi; Thomas-Wilson, Amanda; Caldovic, Ljubica; Kyle, Emily; Yuzyuk, Tatiana; De Biase, Irene; Simpson, Kara; Kanavy, Dona; Spector, Elaine; Pasquali, Marzia; Rehder, Catherine; Stergachis, Andrew; Whirl-Carlo, Michelle; Baudet, Heather; Hung, Christina; Braverman, Nancy E.; Mercimek-Andrews, Saadet; Weaver, Meredith; Craigen, William; Mao, Rong Share Save
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model Parsons, Brendon D.; Medina-Luna, Daniel; Scur, Michal; Pinelli, Marinella; Gamage, Gayani S.; Chilvers, Rebecca A.; Hamon, Yannick; Ahmed, Ibrahim H. I.; Savary, Stephane; Makrigiannis, Andrew P.; Braverman, Nancy E.; Rodriguez-Alcazar, Juan F.; Latz, Eicke; Karakach, Tobias K.; Di Cara, Francesca Share Save
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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E. Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023) Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia Share Save
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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data Thistlethwaite, Lillian R.; Li, Xiqi; Burrage, Lindsay C.; Riehle, Kevin; Hacia, Joseph G.; Braverman, Nancy; Wangler, Michael F.; Miller, Marcus J.; Elsea, Sarah H.; Milosavljevic, Aleksandar Share Save
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The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder Nuebel, Esther; Morgan, Jeffrey T.; Fogarty, Sarah; Winter, Jacob M.; Lettlova, Sandra; Berg, Jordan A.; Chen, Yu-Chan; Kidwell, Chelsea U.; Maschek, J. Alan; Clowers, Katie J.; Argyriou, Catherine; Chen, Lingxiao; Wittig, Ilka; Cox, James E.; Roh-Johnson, Minna; Braverman, Nancy; Bonkowsky, Joshua; Gygi, Steven P.; Rutter, Jared Share Save
Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance Dahabieh, Michael S.; Huang, Fan; Goncalves, Christophe; Flores Gonzalez, Raul Ernesto; Prabhu, Sathyen; Bolt, Alicia; Di Pietro, Erminia; Khoury, Elie; Heath, John; Xu, Zi Yi; Remy-Sarrazin, Joelle; Mann, Koren K.; Orthwein, Alexandre; Boisvert, Francois-Michel; Braverman, Nancy; Miller, Wilson H.; del Rincon, Sonia V. Share Save
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