Successful Use of Therapeutic Hypothermia in a Pregnant Patient

Por Oguayo, Kevin N., Oyetayo, Ola O., Stewart, David, Costa, Steven M., Jones, Richard O.
Publicado no Tex Heart Inst J (2015)

Serial characterisation of monocyte and neutrophil function after lung resection

Por Jones, Richard O, Brittan, Mairi, Anderson, Niall H, Conway Morris, Andrew, Murchison, John T, Walker, William S, Simpson, A John
Publicado em 2014

Dataset for a case report of a homozygous PEX16 F332del mutation

Por Bacino, Carlos, Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado no Data Brief (2015)

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Por Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado no Mol Genet Metab Rep (2015)

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Por Law, Kelsey B., Bronte-Tinkew, Dana, Di Pietro, Erminia, Snowden, Ann, Jones, Richard O., Moser, Ann, Brumell, John H., Braverman, Nancy, Kim, Peter K.
Publicado no Autophagy (2017)

Differential response to bacteria, and TOLLIP expression, in the human respiratory tract

Por Moncayo-Nieto, Olga Lucia, Wilkinson, Thomas S, Brittan, Mairi, McHugh, Brian J, Jones, Richard O, Conway Morris, Andrew, Walker, William S, Davidson, Donald J, Simpson, A John
Publicado em 2014

A model‐based approach to assess the exposure–response relationship of Lorenzo's oil in adrenoleukodystrophy

Por Ahmed, Mariam A., Kartha, Reena V., Brundage, Richard C., Cloyd, James, Basu, Cynthia, Carlin, Bradley P., Jones, Richard O., Moser, Ann B., Fatemi, Ali, Raymond, Gerald V.
Publicado no Br J Clin Pharmacol (2016)

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Por Ventura, Meredith J., Wheaton, Dianna, Xu, Mingchu, Birch, David, Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Whitney, Annette E., Jones, Richard O., Moser, Ann B., Chen, Rui, Wangler, Michael F.
Publicado no Mol Genet Metab Rep (2016)

Newborn Screening for X-linked Adrenoleukodystrophy: Further evidence high throughput screening is feasible

Por Theda, Christiane, Gibbons, Katy, DeFor, Todd E., Donohue, Pamela K., Golden, W. Christopher, Kline, Antonie D., Gulamali-Majid, Fizza, Panny, Susan R., Hubbard, Walter C., Jones, Richard O., Liu, Anita K., Moser, Ann B., Raymond, Gerald V.
Publicado em 2013

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Por Armangue, Thais, Orsini, Joseph J., Takanohashi, Asako, Gavazzi, Francesco, Conant, Alex, Ulrick, Nicole, Morrissey, Mark A., Nahhas, Norah, Helman, Guy, Gordish-Dressman, Heather, Orcesi, Simona, Tonduti, Davide, Stutterd, Chloe, van Haren, Keith, Toro, Camilo, Iglesias, Alejandro D., van der Knaap, Marjo S., Mansky, Raphaela Goldbach, Moser, Anne B, Jones, Richard O, Vanderver, Adeline
Publicado no Mol Genet Metab (2017)