Imperial College London
Alternate

ProfessorStuartCook

Faculty of Medicine, Institute of Clinical Sciences

Visiting Professor
 
 
 
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Contact

 

+44 (0)20 3313 1346stuart.cook

 
 
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Location

 

RF 16Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Lahrouchi:2018,
author = {Lahrouchi, N and Raju, H and Lodder, E and Papatheodorou, S and Ware, JS and Papadakis, M and Tadros, R and Skinner, JR and Crawford, J and Love, DR and Pua, CJ and Soh, BY and Bhalshankar, JD and Govind, R and Tfelt-Hansen, J and Winkel, BG and Werf, C and Wijeyeratne, YD and Mellor, G and Till, J and Cohen, M and Tome-Esteban, M and Sharma, S and Wilde, AAM and Cook, SA and Bezzina, CR and Sheppard, MN and Behr, E},
journal = {Journal of the American College of Cardiology},
title = {Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families},
url = {http://hdl.handle.net/10044/1/44696},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Post-mortem genetic testing (‘molecular autopsy’) of sudden arrhythmicdeath syndrome (SADS) cases can establish a clear molecular diagnosis in a substantial minority.This complements family evaluation. Classification of pathogenicity of genetic variants must,however, be stringent in order to avoid the over calling of variants of unknown significance ascausative. Children and young adults presenting with seizures and syncope, especially whenassociated with stress or exercise, require thorough cardiac evaluation in order to not misscatecholaminergic polymorphic ventricular tachycardia. Molecular autopsy should not howeverbe restricted to the young as cases over 35 years old also carry diagnostic variants.
AU  - Lahrouchi,N
AU  - Raju,H
AU  - Lodder,E
AU  - Papatheodorou,S
AU  - Ware,JS
AU  - Papadakis,M
AU  - Tadros,R
AU  - Skinner,JR
AU  - Crawford,J
AU  - Love,DR
AU  - Pua,CJ
AU  - Soh,BY
AU  - Bhalshankar,JD
AU  - Govind,R
AU  - Tfelt-Hansen,J
AU  - Winkel,BG
AU  - Werf,C
AU  - Wijeyeratne,YD
AU  - Mellor,G
AU  - Till,J
AU  - Cohen,M
AU  - Tome-Esteban,M
AU  - Sharma,S
AU  - Wilde,AAM
AU  - Cook,SA
AU  - Bezzina,CR
AU  - Sheppard,MN
AU  - Behr,E
PY  - 2018///
SN  - 1558-3597
TI  - Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families
T2  - Journal of the American College of Cardiology
UR  - http://hdl.handle.net/10044/1/44696
ER  -
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