Browsing by Author Peters, Gregory

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 18 of 18
Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2016A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblingsPeters, Gregory; Kelly, Amanda L; McGaughran, Julie M.; Nandini, Adayapalam; St Heaps, Luke; Wallis, Mathew J; Childrens Hospital Westmead: Paediatrics & Child HealthA balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings, American Journal of Medical Genetics, Part A, vol.170, 7, 2016,pp 1930-1933
2008Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and GlaucomaBillson, FranK; Grigg, John; Jamieson, Robyn; Peters, Gregory; Tam, Patrick; Flaherty, Maree; Mihelec, Marija; Rudduck, Christina; St Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsChromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma, Twin Research and Human Genetics, vol.11,(4),2008,pp 412-421
2012Chromosome microarray in Australia: a guide for paediatriciansPeters, Gregory; Mowat, David; Palmer, Elizabeth; Children's Hospital Westmead: Paediatrics & Child HealthChromosome microarray in Australia: a guide for paediatricians, Journal of Paediatrics and Child Health, vol.48, 2, 2012,pp E59-E67
2016Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratoriesPeters, Gregory; Adayapalam, N; Bain, N; Bain, S M; Brown, A; Buzzacott, N; Carey, L; Cross, J; Dun, K; et al, Various; Wright, D C; Childrens Hospital Westmead: Paediatrics & Child HealthChromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories, Pathology, vol.48, 6, 2016,pp 586-596
2014Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic DataPeters, Gregory; Pertile, Mark D; Childrens Hospital Westmead: Paediatrics & Child HealthChromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data in Clinical Bioinformatics, Humana Press, 2014, pp. 117-155
2006Chromosome microdissection identifies genomic amplifications associated with drug resistance in a leukemia cell line: an approach to understanding drug resistance in cancer.Peters, Gregory; Hill, Ronald J.; Mahjoubi, Frouzandeh; Children's Hospital Westmead: Paediatrics & Child HealthChromosome microdissection identifies genomic amplifications associated with drug resistance in a leukemia cell line: an approach to understanding drug resistance in cancer., Chromosome Research, vol.14,(3),2006,pp 263-276
2010Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiencyBennetts, Bruce; Ellaway, Carolyn; Peters, Gregory; Wilcken, Bridget; Balasubramaniam, S; Rudduck, Christina; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthContiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, vol.99, 1,pp 34-41
2015Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeChristodoulou, John; Ellaway, Carolyn; Peters, Gregory; Tam, Patrick; Pelka, Gregory J; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsDeletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype, European Journal of Human Genetics, vol.23, 9, 2015,pp 1171-1175
2004Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism.Ades, Lesley; Daniel, Art; Darmanian, Artur; Kennedy, Craig; Malafiej, Paul; Peters, Gregory; Tembe, Varsha; Wu, Zhanhe; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Western Clinical School: Obstetrics & Gynaecology; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Obstetrics & GynaecologyIssues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism., Prenatal diagnosis, vol.24,(7),2004,pp 524-536
2011Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172BCarpenter, Kevin; Christodoulou, John; Ho, Gladys; Peters, Gregory; Inui, Ken-Ichi; Masuda, Satohiro; Mitchell, John J.; Olsen, R. K. J.; Rhead, William; Sim, K. G.; Yonezawa, Atsushi; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMaternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B, Human Mutation, vol.32, 1, 2011,pp E1976-E1984
2012Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre studyDale, Russell; Grattan-Smith, Padraic; Nicholson, Michelle; Peters, Gregory; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Inst. of Clinical Neurosciences; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthMicrodeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study, Developmental Medicine and Child Neurology, vol.54, 7, 2012,pp 618-623
2017Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaDale, Russell; Misra, S; Mohammad, Shekeeb; Peters, Gregory; Carss, Keren; et al, Various; Grozeva, Detelina; Joseph, Agnel; Mencacci, Niccolo; Meyer, Esther; Ng, Joanne; Nichols, John; Papandreou, Apostolos; Rankin, Julia; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia, Nature Genetics, vol.49, 2, 2017,pp 223-237
2016Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsPeters, Gregory; Akdemir, Kadir; Arbuckle, Susan; Dharmadhikari, Avinash V; et al, Various; Gambin, Tomasz; Godiwala, Nihal; Jhangiani, Shalini N; Schuette, Jennifer; Sebastian, Jessica; Szafranski, Przemyslaw; Yatsenko, Svetlana A; Childrens Hospital Westmead: Paediatrics & Child HealthPathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins, Human Genetics, vol.135, 5, 2016,pp 569-586
2009Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromePeters, Gregory; Widmer, Richard; Aftimos, Salim; Darmanian, Artur; et al, various; Ghedia, S; Kirk, E. P. E.; Love, Donald; Ronan, A; Susman, Rachel D.; Tan, T; Wilson, Meredith J.; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Dentistry FacultyPhenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome, Journal of Medical Genetics, vol.46, 7,pp 480-489
2013Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorderMalcolm, Girvan; Peters, Gregory; Brosens, Erwin; Chen, Bo; Dharmadhikari, Avinash V; Dittwald, Piotr; et al, Various; Gurha, Priyatansh; Kolodziejska, Katarzyna E; Majewski, Tadeusz; Mohan, K Naga; Szafranski, Przemyslaw; Zhishuo, Ou; Central Clinical School: Obstetrics & Gynaecology; Children's Hospital Westmead: Paediatrics & Child HealthSmall noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder, Genome Research, vol.23, 1, 2013,pp 23-33
2005Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer.Balleine, Rosemary; Byrne, Jennifer; Byth Wilson, Karen; Chiew, Yoke-Eng; deFazio, Anna; Harnett, Paul; Livnat, Y; Peters, Gregory; Fejzo, Marlena Schoenberg; Karlan, Beth Y; Mercieca, Janelle; Slamon, Dennis J; St.Heaps, Luke; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; School of Public Health: NH&MRC Clinical Trials Centre; Western Clinical School: Obstetrics & Gynaecology; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child HealthTumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer., International Journal of Cancer, vol.117,(6),2005,pp 1049-54
2008Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeresPeters, Gregory; Daniels, Art; Diaz, Sara; St Heaps, Luke; Sylvester, Dianne; Children's Hospital Westmead: Paediatrics & Child HealthTwo mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres, Cell and chromosome, vol.7,(1),2008,pp doi:10.1186/1475-9268-7-1-N/A