Dr Gregory Peters

Head, Cytogenetics
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3237
F: +61 2 9845 3238


2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo, A., Zhang, Z., Lee, C., Chen, P., Seng, C., Ariyaratne, P., Rouam, S., Soo, L., Yousoof, S., Prokudin, I., Peters, G., Collins, F., Wilson, M., Kakakios, A., Haddad, G., Menuet, A., Perche, O., Tay, S., Sung, K., Ruan, X., Ruan, Y., Liu, E., Briault, S., Jamieson, R., Davila, S., Cacheux, V. (2014), Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PloS One. 9(3), e90852. [Abstract]


  • Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013), 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics. 21(5), 522-527. [Abstract]
  • Szafranski, P., Dharmadhikari, A., Brosens, E., Gurha, P., Kolodziejska, K., Zhishuo, O., Dittwald, P., Majewski, T., Mohan, K., Chen, B., Person, R., Tibboel, D., de Klein, A., Pinner, J., Chopra, M., Malcolm, G., Peters, G., Arbuckle, S., Guiang, S., Hustead, V., Jessurun, J., Hirsch, R., Witte, D., Maystadt, I., Sebire, N., Fisher, R., Langston, C., Sen, P., Stankiewicz, P. (2013), Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Research. 23(1), 23-33. [Abstract]


  • Dale, R., Grattan-Smith, P., Nicholson, M., Peters, G. (2012), Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Developmental Medicine and Child Neurology. 54(7), 618-623. [Abstract]
  • Palmer, E., Peters, G., Mowat, D. (2012), Chromosome microarray in Australia: a guide for paediatricians. Journal of Paediatrics and Child Health. 48(2), E59-67. [Abstract]
  • Byrne, J., Chen, Y., Martin La Rotta, N., Peters, G. (2012), Challenges in Identifying Candidate Amplification Targets in Human Cancers: Chromosome 8q21 as a Case Study. Genes & Cancer. 3(2), 87-101. [Abstract]


  • Dale, R., Grattan-Smith, P., Fung, V., Peters, G. (2011), Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology. 77(14), 1401-2. [Abstract]
  • Dale, R., Nasti, J., Peters, G. (2011), Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. Movement disorders : official journal of the Movement Disorder Society. , 1774-5. [Abstract]
  • Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K., Carpenter, K., Olsen, R., Mitchell, J., Rhead, W., Peters, G., Christodoulou, J. (2011), Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Human mutation. 32(1), E1976-84. [Abstract]


  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Adès, L., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Dalla Bernardina, B., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., de Brouwer, A., Veltman, J., de Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H., Zuffardi, O., de Vries, B. (2010), The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics. 18(2), 163-170. [Abstract]
  • Mahajan, H., Sharma, R., Darmanian, A., Peters, G. (2010), Fibrosarcomatous variant of dermatofibrosarcoma protuberans showing COL1A1-PDGFB gene fusion, detected using a novel and disease-specific RT-PCR protocol. Pathology. 42(5), 488-491. [Abstract]
  • Balasubramaniam, S., Rudduck, C., Bennetts, B., Peters, G., Wilcken, B., Ellaway, C. (2010), Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. Molecular genetics and metabolism. 99(1), 34-41. [Abstract]


  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G. (2009), Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. , 480-489. [Abstract]


  • Mihelec, M., St Heaps, L., Flaherty, M., Billson, F., Rudduck, C., Tam, P., Grigg, J., Peters, G., Jamieson, R. (2008), Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Research and Human Genetics. 11(4), 412-421. [Abstract]
  • Gabbett, M., Peters, G., Carmichael, J., Darmanian, A., Collins, F. (2008), Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clinical genetics. 73(4), 353-359. [Abstract]
  • Wilson, M., Peters, G., Bennetts, B., McGillivray, G., Wu, Z., Poon, C., Algar, E. (2008), The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. American journal of medical genetics. Part A. 146A, 137-48. [Abstract]
  • Bonaglia, M., Giorda, R., Beri, S., Peters, G., Kirk, E., Hung, D., Ciccone, R., Gottardi, G., Zuffardi, O. (2008), Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant. European Journal of Medical Genetics. 51(2), 148-155. [Abstract]
  • Daniel, A., St Heaps, L., Sylvester, D., Diaz, S., Peters, G. (2008), Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres. Cell & chromosome. 7, 1. [Abstract]