Dr Gregory Peters

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

Telephone +61 2 9845 3237
Fax +61 2 9845 3238

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Selected publications

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Book Chapters

  • Peters, G., Pertile, M. (2014). Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data. In Ronald Trent (Eds.), Methods in Molecular Biology: Vol 1168, Clinical Bioinformatics, (pp. 117-156). New York, United States: Humana Press.

Journals

  • 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. [More Information]
  • Szafranski, P., Dharmadhikari, A., Brosens, E., Gurha, P., Kolodziejska, K., Zhishuo, O., Dittwald, P., Majewski, T., Mohan, K., Chen, B., Malcolm, G., Peters, G., et al (2013). Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Research, 23(1), 23-33. [More Information]
  • 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 and Cancer, 3(2), 87-101. [More Information]
  • Palmer, E., Peters, G., Mowat, D. (2012). Chromosome microarray in Australia: a guide for paediatricians. Journal of Paediatrics and Child Health, 48(2), E59-E67. [More Information]
  • 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. [More Information]
  • Dale, R., Grattan-Smith, P., Fung, V., Peters, G. (2011). Clinical/Scientific notes. Neurology, 77(14), 1401-1402. [More Information]
  • Dale, R., Nasti, J., Peters, G. (2011). Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. Movement Disorders, 26(9), 1774-1775. [More Information]
  • Dale, R., Grattan-Smith, P., Fung, V., Peters, G. (2011). Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology, 77(14), 1401-1402. [More Information]
  • 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-E1984. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]
  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Widmer, R., Peters, G., et al (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 46(7), 480-489. [More Information]
  • 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. [More Information]
  • 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; formerly Annales de Genetique (France) (0003-3995), 51(2), 148-155. [More Information]
  • 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. [More Information]
  • Daniels, 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 and chromosome, 7, 1-1-1-8. [More Information]
  • Daniel, A., Darmanian, A., Peters, G., Goodwin, L., Hort, J. (2007). An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies. American Journal of Medical Genetics. Part A, 143(20), 2452-9. [More Information]
  • Algar, E., St Heaps, L., Darmanian, A., Dagar, V., Prawitt, D., Peters, G., Collins, F. (2007). Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Research, 67(5), 2360-2365. [More Information]
  • Peters, G., Bennetts, B., McGillivray, G., Wu, Z., Poon, C., Algar, E. (2007). The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. American Journal of Medical Genetics. Part A, 146, 137-48. [More Information]
  • Mahjoubi, F., Hill, R., Peters, G. (2006). Chromosome microdissection identifies genomic amplifications associated with drug resistance in a leukemia cell line: an approach to understanding drug resistance in cancer. Chromosome Research, 14(3), 263-276. [More Information]
  • Nolen, L., Amor, D., Haywood, A., St. Heaps, L., Willcock, C., Mihelec, M., Tam, P., Billson, F., Grigg, J., Peters, G., Jamieson, R. (2006). Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. American Journal of Medical Genetics. Part A, 140(16), 1711-1718. [More Information]
  • Davey, R., Stordal, B., Peters, G. (2006). Similar chromosomal changes in cisplatin and oxaliplatin-resistant sublines of the H69 SCLC cell line are not associated with platinum resistance. Genes Chromosomes and Cancer, 45. [More Information]
  • Mahjoubi, F., Peters, G., Malafiej, P., Shalhoub, C., Turner, A., Daniel, A., Hill, R. (2005). An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. Cytogenetic and Genome Research, 109(4), 485-490. [More Information]
  • Maclean, K., Smith, J., St Heaps, L., Chia, N., Williams, R., Peters, G., Onikul, E., McCrossin, T., Lehmann, O., Ades, L. (2005). Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics. Part A, 132a (4), 381-385. [More Information]
  • Byrne, J., Balleine, R., Fejzo, M., Mercieca, J., Chiew, Y., Livnat, Y., St.Heaps, L., Peters, G., Byth Wilson, K., Karlan, B., Harnett, P., deFazio, A., et al (2005). Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer. International Journal of Cancer, 117(6), 1049-54. [More Information]
  • Daniel, A., Wu, Z., Darmanian, A., Malafiej, P., Tembe, V., Peters, G., Kennedy, C., Ades, L. (2004). Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism. Prenatal diagnosis, 24(7), 524-536. [More Information]
  • Neas, K., Chia, N., Clarke, M., Peters, G., Ades, L. (2003). A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. Clinical Dysmorphology, 11, 179-181.

Conferences

  • Poon, S., Davis, J., Peters, G. (2006). Convergence or coalescence? Information Technology and the Reshaping of Industry Boundaries. 14th European Conference on Information Systems ECIS 2006, Sweden: Goteborg University.

2014

  • Peters, G., Pertile, M. (2014). Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data. In Ronald Trent (Eds.), Methods in Molecular Biology: Vol 1168, Clinical Bioinformatics, (pp. 117-156). New York, United States: Humana Press.

2013

  • 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. [More Information]
  • Szafranski, P., Dharmadhikari, A., Brosens, E., Gurha, P., Kolodziejska, K., Zhishuo, O., Dittwald, P., Majewski, T., Mohan, K., Chen, B., Malcolm, G., Peters, G., et al (2013). Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Research, 23(1), 23-33. [More Information]

2012

  • 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 and Cancer, 3(2), 87-101. [More Information]
  • Palmer, E., Peters, G., Mowat, D. (2012). Chromosome microarray in Australia: a guide for paediatricians. Journal of Paediatrics and Child Health, 48(2), E59-E67. [More Information]
  • 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. [More Information]

2011

  • Dale, R., Grattan-Smith, P., Fung, V., Peters, G. (2011). Clinical/Scientific notes. Neurology, 77(14), 1401-1402. [More Information]
  • Dale, R., Nasti, J., Peters, G. (2011). Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. Movement Disorders, 26(9), 1774-1775. [More Information]
  • Dale, R., Grattan-Smith, P., Fung, V., Peters, G. (2011). Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology, 77(14), 1401-1402. [More Information]
  • 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-E1984. [More Information]

2010

  • 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. [More Information]
  • 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. [More Information]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]

2009

  • Tan, T., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E., Love, D., Ronan, A., Darmanian, A., Widmer, R., Peters, G., et al (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 46(7), 480-489. [More Information]

2008

  • 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. [More Information]
  • 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; formerly Annales de Genetique (France) (0003-3995), 51(2), 148-155. [More Information]
  • 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. [More Information]
  • Daniels, 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 and chromosome, 7, 1-1-1-8. [More Information]

2007

  • Daniel, A., Darmanian, A., Peters, G., Goodwin, L., Hort, J. (2007). An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies. American Journal of Medical Genetics. Part A, 143(20), 2452-9. [More Information]
  • Algar, E., St Heaps, L., Darmanian, A., Dagar, V., Prawitt, D., Peters, G., Collins, F. (2007). Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Research, 67(5), 2360-2365. [More Information]
  • Peters, G., Bennetts, B., McGillivray, G., Wu, Z., Poon, C., Algar, E. (2007). The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. American Journal of Medical Genetics. Part A, 146, 137-48. [More Information]

2006

  • Mahjoubi, F., Hill, R., Peters, G. (2006). Chromosome microdissection identifies genomic amplifications associated with drug resistance in a leukemia cell line: an approach to understanding drug resistance in cancer. Chromosome Research, 14(3), 263-276. [More Information]
  • Poon, S., Davis, J., Peters, G. (2006). Convergence or coalescence? Information Technology and the Reshaping of Industry Boundaries. 14th European Conference on Information Systems ECIS 2006, Sweden: Goteborg University.
  • Nolen, L., Amor, D., Haywood, A., St. Heaps, L., Willcock, C., Mihelec, M., Tam, P., Billson, F., Grigg, J., Peters, G., Jamieson, R. (2006). Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. American Journal of Medical Genetics. Part A, 140(16), 1711-1718. [More Information]
  • Davey, R., Stordal, B., Peters, G. (2006). Similar chromosomal changes in cisplatin and oxaliplatin-resistant sublines of the H69 SCLC cell line are not associated with platinum resistance. Genes Chromosomes and Cancer, 45. [More Information]

2005

  • Mahjoubi, F., Peters, G., Malafiej, P., Shalhoub, C., Turner, A., Daniel, A., Hill, R. (2005). An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. Cytogenetic and Genome Research, 109(4), 485-490. [More Information]
  • Maclean, K., Smith, J., St Heaps, L., Chia, N., Williams, R., Peters, G., Onikul, E., McCrossin, T., Lehmann, O., Ades, L. (2005). Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics. Part A, 132a (4), 381-385. [More Information]
  • Byrne, J., Balleine, R., Fejzo, M., Mercieca, J., Chiew, Y., Livnat, Y., St.Heaps, L., Peters, G., Byth Wilson, K., Karlan, B., Harnett, P., deFazio, A., et al (2005). Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer. International Journal of Cancer, 117(6), 1049-54. [More Information]

2004

  • Daniel, A., Wu, Z., Darmanian, A., Malafiej, P., Tembe, V., Peters, G., Kennedy, C., Ades, L. (2004). Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism. Prenatal diagnosis, 24(7), 524-536. [More Information]

2003

  • Neas, K., Chia, N., Clarke, M., Peters, G., Ades, L. (2003). A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. Clinical Dysmorphology, 11, 179-181.

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