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Publications: Tankard, Rick

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Number of items: 10.

Journal Article

Amor, D.J., Stephenson, S.E.M., Mustapha, M., Mensah, M.A., Ockeloen, C.W., Lee, W.S., Tankard, R.M.ORCID: 0000-0002-8847-9401, Phelan, D.G., Shinawi, M., de Brouwer, A.P.M., Pfundt, R., Dowling, C., Toler, T.L., Sutton, V.R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M., Reardon, W., Shaw-Smith, C., Leventer, R.J., Delatycki, M.B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N.J. and Lockhart, P.J. (2019) Pathogenic variants in GPC4 cause Keipert Syndrome. American Journal of Human Genetics, 104 (5). pp. 914-924.

Tankard, R.M.ORCID: 0000-0002-8847-9401, Bennett, M.F., Degorski, P., Delatycki, M.B., Lockhart, P.J. and Bahlo, M. (2018) Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data. The American Journal of Human Genetics, 103 (6). pp. 858-873.

Bahlo, M., Bennett, M.F., Degorski, P., Tankard, R.MORCID: 0000-0002-8847-9401, Delatycki, M.B. and Lockhart, P.J. (2018) Recent advances in the detection of repeat expansions with short-read next-generation sequencing. F1000Research, 7 .

Marsh, A.P.L., Heron, D., Edwards, T.J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M-L, Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R.ORCID: 0000-0002-8847-9401, Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J. and Depienne, C. (2017) Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49 (4). pp. 511-514.

Amor, D.J., Marsh, A.P.L., Storey, E., Tankard, R.ORCID: 0000-0002-8847-9401, Gillies, G., Delatycki, M.B., Pope, K., Bromhead, C., Leventer, R.J., Bahlo, M. and Lockhart, P.J. (2016) Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. Neurology Genetics, 2 (6). e114.

Marsh, A.P.L., Lukic, V., Pope, K., Bromhead, C., Tankard, R.ORCID: 0000-0002-8847-9401, Ryan, M.M., Yiu, E.M., Sim, J.C.H., Delatycki, M.B., Amor, D.J., McGillivray, G., Sherr, E.H., Bahlo, M., Leventer, R.J. and Lockhart, P.J. (2015) Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurology Genetics, 1 (2). e16.

Hildebrand, M.S., Tankard, R.ORCID: 0000-0002-8847-9401, Gazina, E.V., Damiano, J.A., Lawrence, K.M., Dahl, H-H.M., Regan, B.M., Shearer, A.E., Smith, R.J.H., Marini, C., Guerrini, R., Labate, A., Gambardella, A., Tinuper, P., Lichetta, L., Baldassari, S., Bisulli, F., Pippucci, T., Scheffer, I.E., Reid, C.A., Petrou, S., Bahlo, M. and Berkovic, S.F. (2015) PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Annals of Clinical and Translational Neurology, 2 (8). pp. 821-830.

Bahlo, M., Tankard, R.ORCID: 0000-0002-8847-9401, Lukic, V., Oliver, K.L. and Smith, K.R. (2014) Using familial information for variant filtering in high-throughput sequencing studies. Human Genetics, 133 (11). pp. 1331-1341.

Azmanov, D.N., Chamova, T., Tankard, R.ORCID: 0000-0002-8847-9401, Gelev, V., Bynevelt, M., Florez, L., Tzoneva, D., Zlatareva, D., Guergueltcheva, V., Bahlo, M., Tournev, I. and Kalaydjieva, L. (2013) Challenges of diagnostic exome sequencing in an inbred founder population. Molecular Genetics & Genomic Medicine, 1 (2). pp. 71-76.


Tankard, Rick MichaelORCID: 0000-0002-8847-9401 (2017) Identifying disease-causing short tandem repeat expansions in massively parallel sequencing data, with a focus on ataxias. PhD thesis, The University of Melbourne.

This list was generated on Wed Oct 23 12:45:55 2019 UTC.