Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots
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., Goldbach Mansky, Raphaela, Moser, Anne B., Jones, Richard O., Vanderver, Adeline
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome
Gui, Junhong, Wang, Tao, Jones, Richard P O, Trump, Dorothy, Zimmer, Thomas, Lei, Ming
Published in PloS one (07.06.2010)
Published in PloS one (07.06.2010)
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Hyperglycemia impairs cytotrophoblast function via stress signaling
R. Cawyer, Chase, MD, MBA, Horvat, Darijana, BS, Leonard, Dean, Allen, Steven R., MD, Jones, Richard O., MD, Zawieja, David C., PhD, Kuehl, Thomas J., PhD, Uddin, Mohammad N., PhD
Published in American journal of obstetrics and gynecology (01.11.2014)
Published in American journal of obstetrics and gynecology (01.11.2014)
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Elevation of (Pro)Renin and (Pro)Renin Receptor in Preeclampsia
Thomason, Jessica, Reyes, Michelle, Allen, Steven R., Jones, Richard O., Beeram, Madhava R., Kuehl, Thomas J., Suzuki, Fumiaki, Uddin, Mohammad Nasir
Published in American journal of hypertension (01.10.2015)
Published in American journal of hypertension (01.10.2015)
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C5a-mediated neutrophil dysfunction is RhoA-dependent and predicts infection in critically ill patients
Morris, Andrew Conway, Brittan, Mairi, Wilkinson, Thomas S., McAuley, Danny F., Antonelli, Jean, McCulloch, Corrienne, Barr, Laura C., McDonald, Neil A., Dhaliwal, Kev, Jones, Richard O., Mackellar, Annie, Haslett, Christopher, Hay, Alasdair W., Swann, David G., Anderson, Niall, Laurenson, Ian F., Davidson, Donald J., Rossi, Adriano G., Walsh, Timothy S., Simpson, A. John
Published in Blood (12.05.2011)
Published in Blood (12.05.2011)
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Newborn Screening for X-Linked Adrenoleukodystrophy
Moser, Ann B, Jones, Richard O, Hubbard, Walter C, Tortorelli, Silvia, Orsini, Joseph J, Caggana, Michele, Vogel, Beth H, Raymond, Gerald V
Published in International journal of neonatal screening (01.12.2016)
Published in International journal of neonatal screening (01.12.2016)
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Intrapulmonary Gallstone
Jones, Richard O., MD, MRCSEd, Turnbull, Grant D, Forty, Jonathan, FRCS
Published in The Annals of thoracic surgery (01.04.2015)
Published in The Annals of thoracic surgery (01.04.2015)
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Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
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.
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy
Sandlers, Yana, Moser, Ann B., Hubbard, Walter C., Kratz, Lisa E., Jones, Richard O., Raymond, Gerald V.
Published in Molecular genetics and metabolism (01.03.2012)
Published in Molecular genetics and metabolism (01.03.2012)
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A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey
Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Published in Molecular genetics and metabolism reports (01.12.2015)
Published in Molecular genetics and metabolism reports (01.12.2015)
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The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders
Law, Kelsey B., Bronte-Tinkew, Dana, Di Pietro, Erminia, Snowden, Ann, Jones, Richard O., Moser, Ann, Brumell, John H., Braverman, Nancy, Kim, Peter K.
Published in Autophagy (04.05.2017)
Published in Autophagy (04.05.2017)
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Innate immune responses after resection for lung cancer via video-assisted thoracoscopic surgery and thoracotomy
Jones, Richard O, Anderson, Niall H, Murchison, John T, Brittan, Mairi, Simon, Ellis J, Casali, Gianluca, Simpson, A John, Walker, William S
Published in Innovations (Philadelphia, Pa.) (01.03.2014)
Published in Innovations (Philadelphia, Pa.) (01.03.2014)
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.
Published in Neuron (Cambridge, Mass.) (20.05.2020)
Published in Neuron (Cambridge, Mass.) (20.05.2020)
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Dataset for a case report of a homozygous PEX16 F332del mutation
Bacino, Carlos, Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Published in Data in brief (01.03.2016)
Published in Data in brief (01.03.2016)
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Differential response to bacteria, and TOLLIP expression, in the human respiratory tract
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
Published in BMJ open respiratory research (01.09.2014)
Published in BMJ open respiratory research (01.09.2014)
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
Wangler, Michael F, Hubert, Leroy, Donti, Taraka R, Ventura, Meredith J, Miller, Marcus J, Braverman, Nancy, Gawron, Kelly, Bose, Mousumi, Moser, Ann B, Jones, Richard O, Rizzo, William B, Sutton, V Reid, Sun, Qin, Kennedy, Adam D, Elsea, Sarah H
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway
Wang, Tao, Holt, Cathy M., Xu, Chiheng, Ridley, Caroline, P O Jones, Richard, Baron, Martin, Trump, Dorothy
Published in Cellular signalling (01.12.2007)
Published in Cellular signalling (01.12.2007)
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Evidence for Steric Regulation of Fibrinogen Binding to Staphylococcus aureus Fibronectin-binding Protein A (FnBPA)
Stemberk, Vaclav, Jones, Richard P.O., Moroz, Olga, Atkin, Kate E., Edwards, Andrew M., Turkenburg, Johan P., Leech, Andrew P., Massey, Ruth C., Potts, Jennifer R.
Published in The Journal of biological chemistry (02.05.2014)
Published in The Journal of biological chemistry (02.05.2014)
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