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

Research

Research themes

Healthy futures

Research focus

Medical and Health Sciences
Biological Sciences
Clinical Sciences
Neurosciences
Cognitive Sciences

Highlights

Epilepsy and Genetics

Research

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. 40 36 4
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 80 86 104
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 37 36 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. 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 20 14
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 59 59 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. 48 48
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. 27 27 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. 15 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 8 5
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. 50 45
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. 58 54
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. 162 152
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. 154 141
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. 215 200 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. 101 89 3

External engagement & recognition

Collaborations

External engagement & recognition

Collaborations

Organisation	Country
Alder Hey Children's NHS Trust	UNITED KINGDOM
Amplexa Genetics	DENMARK
Austin Health	AUSTRALIA
Bellaria Hospital	ITALY
Besta Neurological Institute	ITALY
Consiglio Nazionale delle Ricerche (National Research Council)	ITALY
Cork University Hospital	IRELAND
Countess of Chester Hospital	UNITED KINGDOM
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
Royal Alexandra Hospital for Children	AUSTRALIA
SA Pathology	AUSTRALIA
St. Lucas Andreas	NETHERLANDS
University of Adelaide	AUSTRALIA
University of Bologna	ITALY
University of Buenos Aires	ARGENTINA
University of Dundee	UNITED KINGDOM
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 South Denmark	DENMARK
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

About me

About me

School of Pharmacy and Medical Sciences

About me

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Research

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Outputs

Journal Articles

Current research & highlights

External engagement & recognition

Collaborations

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