Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death

Por Lahrouchi, Najim, Lodder, Elisabeth M, Mansouri, Maria, Tadros, Rafik, Zniber, Layla, Adadi, Najlae, Clur, Sally-Ann B, van Spaendonck-Zwarts, Karin Y, Postma, Alex V, Sefiani, Abdelaziz, Ratbi, Ilham, Bezzina, Connie R
Publicado no Eur J Hum Genet (2017)

TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

Por Devalla, Harsha D, Gélinas, Roselle, Aburawi, Elhadi H, Beqqali, Abdelaziz, Goyette, Philippe, Freund, Christian, Chaix, Marie‐A, Tadros, Rafik, Jiang, Hui, Le Béchec, Antony, Monshouwer‐Kloots, Jantine J, Zwetsloot, Tom, Kosmidis, Georgios, Latour, Frédéric, Alikashani, Azadeh, Hoekstra, Maaike, Schlaepfer, Jurg, Mummery, Christine L, Stevenson, Brian, Kutalik, Zoltan, de Vries, Antoine AF, Rivard, Léna, Wilde, Arthur AM, Talajic, Mario, Verkerk, Arie O, Al‐Gazali, Lihadh, Rioux, John D, Bhuiyan, Zahurul A, Passier, Robert
Publicado no EMBO Mol Med (2016)

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Por Lahrouchi, Najim, Raju, Hariharan, Lodder, Elisabeth M., Papatheodorou, Efstathios, Ware, James S., Papadakis, Michael, Tadros, Rafik, Cole, Della, Skinner, Jonathan R., Crawford, Jackie, Love, Donald R., Pua, Chee J., Soh, Bee Y., Bhalshankar, Jaydutt D., Govind, Risha, Tfelt-Hansen, Jacob, Winkel, Bo G., van der Werf, Christian, Wijeyeratne, Yanushi D., Mellor, Greg, Till, Jan, Cohen, Marta C., Tome-Esteban, Maria, Sharma, Sanjay, Wilde, Arthur A.M., Cook, Stuart A., Bezzina, Connie R., Sheppard, Mary N., Behr, Elijah R.
Publicado no J Am Coll Cardiol (2017)