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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.


A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.


A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.


Nrf2 target genes can be controlled by neuronal activity in the absence of Nrf2 and astrocytes.

Deighton RF, Márkus NM, Al-Mubarak B, Bell KF, Papadia S, Meakin PJ, Chowdhry S, Hayes JD, Hardingham GE.

Proc Natl Acad Sci U S A. 2014 May 6;111(18):E1818-20. doi: 10.1073/pnas.1402097111. Epub 2014 Apr 21. No abstract available.


SynGAP isoforms exert opposing effects on synaptic strength.

McMahon AC, Barnett MW, O'Leary TS, Stoney PN, Collins MO, Papadia S, Choudhary JS, Komiyama NH, Grant SG, Hardingham GE, Wyllie DJ, Kind PC.

Nat Commun. 2012 Jun 12;3:900. doi: 10.1038/ncomms1900.


Neuronal activity controls the antagonistic balance between peroxisome proliferator-activated receptor-γ coactivator-1α and silencing mediator of retinoic acid and thyroid hormone receptors in regulating antioxidant defenses.

Soriano FX, Léveillé F, Papadia S, Bell KF, Puddifoot C, Hardingham GE.

Antioxid Redox Signal. 2011 Apr 15;14(8):1425-36. doi: 10.1089/ars.2010.3568. Epub 2011 Feb 20.


Implication of TAp73 in the p53-independent pathway of Puma induction and Puma-dependent apoptosis in primary cortical neurons.

Fricker M, Papadia S, Hardingham GE, Tolkovsky AM.

J Neurochem. 2010 Aug;114(3):772-83. doi: 10.1111/j.1471-4159.2010.06804.x. Epub 2010 May 8.


Excitotoxic insults lead to peroxiredoxin hyperoxidation.

Léveillé F, Soriano FX, Papadia S, Hardingham GE.

Oxid Med Cell Longev. 2009 Apr-Jun;2(2):110-3.


Suppression of the intrinsic apoptosis pathway by synaptic activity.

Léveillé F, Papadia S, Fricker M, Bell KF, Soriano FX, Martel MA, Puddifoot C, Habel M, Wyllie DJ, Ikonomidou C, Tolkovsky AM, Hardingham GE.

J Neurosci. 2010 Feb 17;30(7):2623-35. doi: 10.1523/JNEUROSCI.5115-09.2010.


Role of histone acetylation in the activity-dependent regulation of sulfiredoxin and sestrin 2.

Soriano FX, Papadia S, Bell KF, Hardingham GE.

Epigenetics. 2009 Apr 1;4(3):152-8. Epub 2009 Apr 12.


Specific targeting of pro-death NMDA receptor signals with differing reliance on the NR2B PDZ ligand.

Soriano FX, Martel MA, Papadia S, Vaslin A, Baxter P, Rickman C, Forder J, Tymianski M, Duncan R, Aarts M, Clarke P, Wyllie DJ, Hardingham GE.

J Neurosci. 2008 Oct 15;28(42):10696-710. doi: 10.1523/JNEUROSCI.1207-08.2008.


Induction of sulfiredoxin expression and reduction of peroxiredoxin hyperoxidation by the neuroprotective Nrf2 activator 3H-1,2-dithiole-3-thione.

Soriano FX, Léveillé F, Papadia S, Higgins LG, Varley J, Baxter P, Hayes JD, Hardingham GE.

J Neurochem. 2008 Oct;107(2):533-43. doi: 10.1111/j.1471-4159.2008.05648.x. Epub 2008 Sep 16.


Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses.

Papadia S, Soriano FX, Léveillé F, Martel MA, Dakin KA, Hansen HH, Kaindl A, Sifringer M, Fowler J, Stefovska V, McKenzie G, Craigon M, Corriveau R, Ghazal P, Horsburgh K, Yankner BA, Wyllie DJ, Ikonomidou C, Hardingham GE.

Nat Neurosci. 2008 Apr;11(4):476-87. doi: 10.1038/nn2071. Epub 2008 Mar 23.


The dichotomy of NMDA receptor signaling.

Papadia S, Hardingham GE.

Neuroscientist. 2007 Dec;13(6):572-9. Review.


Preconditioning doses of NMDA promote neuroprotection by enhancing neuronal excitability.

Soriano FX, Papadia S, Hofmann F, Hardingham NR, Bading H, Hardingham GE.

J Neurosci. 2006 Apr 26;26(17):4509-18.


Cellular Notch responsiveness is defined by phosphoinositide 3-kinase-dependent signals.

McKenzie G, Ward G, Stallwood Y, Briend E, Papadia S, Lennard A, Turner M, Champion B, Hardingham GE.

BMC Cell Biol. 2006 Feb 28;7:10.


emc has a role in dorsal appendage fate formation in Drosophila oogenesis.

Papadia S, Tzolovsky G, Zhao D, Leaper K, Clyde D, Taylor P, Asscher E, Kirk G, Bownes M.

Mech Dev. 2005 Sep;122(9):961-74.


Nuclear Ca2+ and the cAMP response element-binding protein family mediate a late phase of activity-dependent neuroprotection.

Papadia S, Stevenson P, Hardingham NR, Bading H, Hardingham GE.

J Neurosci. 2005 Apr 27;25(17):4279-87.


Nuclear Ca2+ and CaM kinase IV specify hormonal- and Notch-responsiveness.

McKenzie GJ, Stevenson P, Ward G, Papadia S, Bading H, Chawla S, Privalsky M, Hardingham GE.

J Neurochem. 2005 Apr;93(1):171-85.


Immunomodulatory responses to delta-opioid receptor ligands in human lymphocytes.

Noviello L, Papadia S, Capobianchi MR, Negri L.

Eur J Pharmacol. 1997 Aug 6;332(2):R1-2.

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