Using familial information for variant filtering in high-throughput sequencing studies

by Bahlo, Melanie, Tankard, Rick, Lukic, Vesna, Oliver, Karen L., Smith, Katherine R.
Published 2014

Challenges of diagnostic exome sequencing in an inbred founder population

by Azmanov, Dimitar N, Chamova, Teodora, Tankard, Rick, Gelev, Vladimir, Bynevelt, Michael, Florez, Laura, Tzoneva, Dochka, Zlatareva, Dora, Guergueltcheva, Velina, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Published 2013

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

by Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Published 2016

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

by Hildebrand, Michael S, Tankard, Rick, Gazina, Elena V, Damiano, John A, Lawrence, Kate M, Dahl, Hans-Henrik M, Regan, Brigid M, Shearer, Aiden Eliot, Smith, Richard J H, Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Published 2015

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

by Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Published 2015