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Ms Marta Bayly

  • Senior Academic Services Officer School of Pharmacy and Medical Sciences
  • City West Campus (HB5-15)
  • tel +61 8 830 22155
  • email Marta.Bayly@unisa.edu.au
  • About me
  • Research
  • External engagement & recognition
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About me

About me

Ms Marta Bayly

School of Pharmacy and Medical Sciences

With standout facilities and strong industry links, the School prepares students for careers in health and medical science.

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Professional Associations

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Experience

Qualifications

  • Bachelor of Biotechnology Flinders University

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  • Experience
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Research

Research themes

  • Healthy futures

Research focus

  • Medical and Health Sciences
  • Biological Sciences
  • Clinical Sciences
  • Neurosciences
  • Cognitive Sciences

Highlights

Epilepsy and Genetics
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Projects

Excludes commercial-in-confidence projects.

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Outputs

Research since 2008 is shown below. To see earlier years visit Scopus

Open access indicates that an output is open access.

Journal Articles

Year Output
2016

Ricos, MG, Hodgson, B, Pippucci, T, Saidin, A, Ong, YS, Heron, SE, Bayly, MA & Dibbens, LM and 14 other authors and 1 consortium 2016, 'Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy', Annals of Neurology, vol.79,no.1, pp. 120-131.

49 45 3
2015

Muona, M, Berkovic, SF, Dibbens, LM, Oliver, KL, Bayly, MA, Heron, SE & Lehesjoki, A-E and 44 other authors 2015, 'A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy', Nature genetics, vol. 47, pp. 39-46.

Open access 96 102 103
2015

Møller, RS, Heron, SE, Larsen, LH, Lim, CX, Ricos, MG, Bayly, MA & Dibbens, LM and 24 other authors 2015, 'Mutations in KCNT1 cause a spectrum of focal epilepsies', Epilepsia, vol. 56, no. 9, pp. e114-e120.

Open access 40 39 8
2013

Gleich, K, Desmond, MJ, Lee, D, Berkovic, SF, Dibbens, LM, Katerlos, M, Bayly, MA, Fraser, SA, Martinello, P, Vears, DF, Mount, P & Power, DA 2013, 'Abnormal processing of autophagosomes in transformed B lymphocytes form SCARB2-deficient subjects', BioResearch open access, vol. 2, no. 1, pp. 40-46.

4 2
2013

Lomax, LB, Bayly, MA, Hjalgrim, H, Møller, RS, Dibbens, LM & Berkovic, SF and 20 other authors 2013, ''North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation', Brain : a journal of neurology, vol. 136, no. 4, pp. 1146-1154.

Open access 21 21 13
2013

Mullen, SA, Carvill, GL, Bellows, S, Bayly, MA, Berkovic, SF, Dibbens, LM, Scheffer, IE & Mefford, HC 2013, 'Copy number variants are frequent in genetic generalized epilepsy with intellectual disability', Neurology, vol. 81, no. 17, pp. 1507-1514.

Open access 67 66 10
2012

Perandones, C, Micheli, FE, Pellene, LA, Bayly, MA, Berkovic, SF & Dibbens, LM 2012, 'A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2', Movement disorders, vol. 27, no. 9, pp. 1200-1201.

7 7 2
2011

Corbett, MA, Schwake, M, Bahlo, M, Dibbens, LM, Lin, M, Gandolfo, LC, Vears, DF, O'Sullivan, JD, Robertson, T, Bayly, MA, Gardner, AE, Vlaar, AM, Korenke, C, Bloem, BR, de Coo, IF, Verhagen, JM, Lehesjoki, A-E, Gecz, J & Berkovic, SF 2011, 'A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia', American journal of human genetics, vol. 88, no. 5, pp. 657-663.

53 55
2011

Dibbens, L, Kneen, R, Bayly, M, Heron, S, Arsov, T, Damiano, J, Desai, T, Gibbs, J, McKenzie, F, Mulley, J, Ronan, A & Scheffer, I 2011, 'Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations', Neurology, vol. 76, no. 17, pp. 1514-1519.

30 28 4
2011

Dibbens, LM, Karakis, I, Bayly, MA, Costello, DJ, Cole, AJ & Berkovic, SF 2011, 'Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy', Archives of Neurology, vol. 68, no. 6, pp. 812-813.

17 14
2011

Mulley, JC, Scheffer, IE, Desai, T, Bayly, MA, Grinton, BE, Vears, DF, Berkovic, SF & Dibbens, LM 2011, 'Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes', Epilepsia, vol. 52, no. 10, pp. e139-e142.

Open access 9 6
2010

Hynes, K, Tarpey, PS, Dibbens, LM, Bayly, MA, Berkovic, S, Smith, R, Al Raisi, Z, Turner, S, Brown, N, Desai, T, Haan, E, Turner, G, Christodoulou, J, Leonard, H, Gill, D, Stratton, M, Gecz, J & Scheffer, IE 2010, 'Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families ', Journal of Medical Genetics, vol. 47, no. 3, pp. 211-216.

53 46
2009

Dibbens, LM, Michelucci, R, Gambardella, A, Andermann, A, Rubboli, G, Bayly, MA, Joensuu, T, Vears, D, Franceschetti, S, Canafoglia, L, Wallace, R, Bassuk, A, Power, D, Tassinari, C, Andermann, E, Lehesjoki, A & Berkovic, S 2009, 'SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure ', Annals Neurology, vol. 66, no. 4, pp. 532-536.

59 55
2009

Dibbens, LM, Mullen, SA, Helbig, I, Mefford, H, Bayly, MA, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, Sander, T, Eichler, E, Scheffer, IE, Mulley, J & Berkovic, S 2009, 'Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-3631.

165 155 3
2008

Berkovic, SF, Dibbens, LM, Oshlack, A, Silver, JD, Bayly, MA & Bahlo, M and 20 other authors 2008, 'Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis', American journal of human genetics, vol. 82, no. 3, pp. 673-684.

161 145
2008

Dibbens, LM, Tarpey, PS, Hynes, K, Bayly, MA & Gecz, J 2008, 'X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment', Nature genetics, vol. 40, no. 6, pp. 776-781.

227 209 10
2008

Helbig, I, Matigian, N, Vadlamudi, L, Bayly, MA, Bain, M, Diyagama, D, Scheffer, IE, Mulley, J, Holloway, A, Dibbens, LM, Berkovic, S & Hayward, N 2008, 'Gene expression analysis in absence epilepsy using a monozygotic twin design ', Epilepsia, vol. 49, no. 9, pp. 1546-1554.

17 14
2008

Scheffer, IE, Turner, SJ, Dibbens, LM, Bayly, MA & Berkovic, SF and 21 other authors 2008, 'Epilepsy and mental retardation limited to females : an under-recognized disorder', Brain : a journal of neurology, vol. 131, no. 4, pp. 918-927.

106 93 3
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Research

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Current research & highlights

Epilepsy and Genetics
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External engagement & recognition

Collaborations

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Collaborations

Organisation Country
Alder Hey Children's NHS Trust UNITED KINGDOM
Amplexa Genetics DENMARK
Austin Health AUSTRALIA
Bellaria Hospital ITALY
Besta Neurological Institute ITALY
Childrens Hospital at Westmead AUSTRALIA
Cork University Hospital IRELAND
Countess of Chester Hospital UNITED KINGDOM
Danish Epilepsy Centre DENMARK
Erasmus MC, Rotterdam NETHERLANDS
Gold Service, Hunter Genetics AUSTRALIA
Institute for Breathing and Sleep AUSTRALIA
Klinikum Oldenburg GERMANY
Massachusetts General Hospital UNITED STATES
McGill University CANADA
National Administration of Laboratories and Health Institutes of Argentina ARGENTINA
Novocraft Technologies SDN Bhd MALAYSIA
Pathology Queensland AUSTRALIA
Peter MacCallum Cancer Centre AUSTRALIA
Queensland Institute of Medical Research AUSTRALIA
Radboud University Nijmegen NETHERLANDS
SA Pathology AUSTRALIA
St. Lucas Andreas NETHERLANDS
University of Adelaide AUSTRALIA
University of Bologna ITALY
University of Buenos Aires ARGENTINA
University of Helsinki FINLAND
University of Kiel GERMANY
University of Melbourne AUSTRALIA
University of Newcastle AUSTRALIA
University of Queensland AUSTRALIA
University of South Australia AUSTRALIA
University of Southern Denmark DENMARK
University of Sydney AUSTRALIA
University of Washington UNITED STATES
University of Western Australia AUSTRALIA
Walter and Eliza Hall Institute of Medical Research AUSTRALIA
Wellcome Trust Sanger Institute UNITED KINGDOM
Women's and Children's Hospital AUSTRALIA
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Ms Marta Bayly
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