ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Mark Handley; Kaalak Reddy; J. Wills; Elisabeth Rosser; Archith Kamath; Mihail Halachev; Gavin Falkous; Denise Williams; Phillip Cox; Alison Meynert; Eleanor Raymond; Harris Morrison; Stephen Brown; Emma Allan; Irene Aligianis; Andrew P. Jackson; Bernard H. Ramsahoye; Alex Von Kriegsheim; Robert W Taylor; Andrew J. Finch; David R. FitzPatrick

doi:10.1371/journal.pgen.1007605

ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Mark Handley, Kaalak Reddy, J. Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P. Jackson, Bernard H. Ramsahoye, Alex Von Kriegsheim, Robert W Taylor, Andrew J. FinchDavid R. FitzPatrick

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	PLoS Genetics
Early online date	11 Mar 2019
DOIs	https://doi.org/10.1371/journal.pgen.1007605
Publication status	E-pub ahead of print - 11 Mar 2019

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10.1371/journal.pgen.1007605

ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated CardiomyopathyAccepted author manuscript, 9.89 MBLicence: Creative Commons: Attribution (CC-BY)

MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation
Jackson, A. (Principal Investigator)
1/04/18 → 31/03/23
Project: Research
HGU Core Award Apr 12 - MAr 18
Hastie, N. (Principal Investigator), Adams, I. (Co-investigator), Baldock, R. (Co-investigator), Bickmore, W. (Co-investigator), Caceres, J. (Co-investigator), Dorin, J. (Co-investigator), FitzPatrick, D. (Co-investigator), Haley, C. (Co-investigator), Hill, B. (Co-investigator), Jackson, I. (Co-investigator), Jackson, A. (Co-investigator), Kudla, G. (Co-investigator), Meehan, R. (Co-investigator) & Patton, E. (Co-investigator)
MRC
1/04/12 → 31/03/18
Project: Research

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Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., ... FitzPatrick, D. R. (2019). ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy. PLoS Genetics. Advance online publication. https://doi.org/10.1371/journal.pgen.1007605

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title = "ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy",

author = "Mark Handley and Kaalak Reddy and J. Wills and Elisabeth Rosser and Archith Kamath and Mihail Halachev and Gavin Falkous and Denise Williams and Phillip Cox and Alison Meynert and Eleanor Raymond and Harris Morrison and Stephen Brown and Emma Allan and Irene Aligianis and Jackson, \{Andrew P.\} and Ramsahoye, \{Bernard H.\} and \{Von Kriegsheim\}, Alex and Taylor, \{Robert W\} and Finch, \{Andrew J.\} and FitzPatrick, \{David R.\}",

year = "2019",

month = mar,

day = "11",

doi = "10.1371/journal.pgen.1007605",

language = "English",

journal = "PLoS Genetics",

issn = "1553-7390",

publisher = "Public Library of Science",

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Handley, M, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, E, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, AP, Ramsahoye, BH, Von Kriegsheim, A, Taylor, RW, Finch, AJ & FitzPatrick, DR 2019, 'ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy', PLoS Genetics. https://doi.org/10.1371/journal.pgen.1007605

TY - JOUR

T1 - ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

AU - Handley, Mark

AU - Reddy, Kaalak

AU - Wills, J.

AU - Rosser, Elisabeth

AU - Kamath, Archith

AU - Halachev, Mihail

AU - Falkous, Gavin

AU - Williams, Denise

AU - Cox, Phillip

AU - Meynert, Alison

AU - Raymond, Eleanor

AU - Morrison, Harris

AU - Brown, Stephen

AU - Allan, Emma

AU - Aligianis, Irene

AU - Jackson, Andrew P.

AU - Ramsahoye, Bernard H.

AU - Von Kriegsheim, Alex

AU - Taylor, Robert W

AU - Finch, Andrew J.

AU - FitzPatrick, David R.

PY - 2019/3/11

Y1 - 2019/3/11

U2 - 10.1371/journal.pgen.1007605

DO - 10.1371/journal.pgen.1007605

M3 - Article

SN - 1553-7390

JO - PLoS Genetics

JF - PLoS Genetics

ER -

ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

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Projects

MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation

HGU Core Award Apr 12 - MAr 18

Cite this