The application of a PCR technique for the detection of immunoglobulin heavy chain gene rearrangements in fresh or paraffin-embedded skin tissueHUGHES, Jenny; WESTON, Susan; BENNETTS, Bruce et al.Pathology (Sydney). 2001, Vol 33, Num 2, pp 222-225, issn 0031-3025Article

Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 GenesHAMVAS, Aaron; NOGEE, Lawrence M; KAMMESHEIDT, Anja et al.The Journal of pediatrics. 2009, Vol 155, Num 6, pp 854-859, issn 0022-3476, 6 p.Article

Ectopia lentis phenotypes and the FBN1 geneADES, Lesley C; HOLMAN, Katherine J; BRETT, Maggie S et al.American journal of medical genetics. 2004, Vol 124A, Num 3, pp 284-289, issn 0148-7299, 6 p.Article

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotypeWEAVING, Linda S; WILLIAMSON, Sarah L; CHRISTODOULOU, John et al.American journal of medical genetics. 2003, Vol 118A, Num 2, pp 103-114, issn 0148-7299, 12 p.Article

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14MATTES, Joerg; WHITEHEAD, Bruce; LIEHR, Thomas et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 18, pp 2165-2171, issn 1552-4825, 7 p.Article

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandHARDWICK, Simon A; REUTER, Kirsten; SMITH, Robert L et al.European journal of human genetics. 2007, Vol 15, Num 12, pp 1218-1229, issn 1018-4813, 12 p.Article

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWEAVING, Linda S; CHRISTODOULOU, John; WATSON, Catherine et al.American journal of human genetics. 2004, Vol 75, Num 6, pp 1079-1093, issn 0002-9297, 15 p.Article

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringSTARK, Zornitza; STOREN, Rebecca; BENNETTS, Bruce et al.European journal of human genetics. 2011, Vol 19, Num 7, pp 753-756, issn 1018-4813, 4 p.Article

Association Between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects With Type 1 DiabetesGALLEGO, Patricia H; CRAIG, Maria E; DUFFIN, Anthony C et al.Diabetes care. 2008, Vol 31, Num 8, pp 1585-1589, issn 0149-5992, 5 p.Article

Karyotype, phenotype and parental origin in 19 cases of triploidyDANIEL, Art; ZHANHE WU; LOO, Christine et al.Prenatal diagnosis. 2001, Vol 21, Num 12, pp 1034-1048, issn 0197-3851Article

The Clinical Phenotype of Mosaicism for Genome-Wide Paternal Uniparental Disomy : Two New ReportsWILSON, Meredith; PETERS, Gregory; BENNETTS, Bruce et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 2, pp 137-148, issn 1552-4825, 12 p.Article

Decline in neurophysiological function after 7 years in an adolescent diabetic cohort and the role of aldose reductase gene polymorphismsTHAMOTHARAMPILLAI, Keerthi; CHAN, Albert K. F; BENNETTS, Bruce et al.Diabetes care. 2006, Vol 29, Num 9, pp 2053-2057, issn 0149-5992, 5 p.Article

Allogeneic bone marrow transplantation: cure for familial Mediterranean feverMILLEDGE, John; SHAW, Peter J; MANSOUR, Albert et al.Blood. 2002, Vol 100, Num 3, pp 774-777, issn 0006-4971Article

Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgeryCHIONG, Mary Anne; BENNETTS, Bruce H; STRASSER, Simone I et al.Medical journal of Australia. 2007, Vol 186, Num 8, pp 418-419, issn 0025-729X, 2 p.Article

An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patientsBUGEJA, Matthew J; BOOTH, David R; BENNETTS, Bruce H et al.European journal of human genetics. 2005, Vol 13, Num 7, pp 815-822, issn 1018-4813, 8 p.Article

Investigation of epistasis between the serotonin transporter and norepinephrine transporter genes in anorexia nervosaURWIN, Ruth E; BENNETTS, Bruce H; WILCKEN, Bridget et al.Neuropsychopharmacology (New York, NY). 2003, Vol 28, Num 7, pp 1351-1355, issn 0893-133X, 5 p.Article

Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-α gene and their associations with multiple sclerosisTEUTSCH, Suzy M; BOOTH, David R; BENNETTS, Bruce H et al.European journal of human genetics. 2003, Vol 11, Num 7, pp 509-515, issn 1018-4813, 7 p.Article

Analysis of the CCL3-L1 gene for association with HIV-1 susceptibility and disease progressionBUGEJA, Matthew J; BOOTH, David R; BENNETTS, Bruce H et al.AIDS (London). 2004, Vol 18, Num 7, pp 1069-1071, issn 0269-9370, 3 p.Article

Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype)URWIN, Ruth E; BENNETTS, Bruce H; WILCKEN, Bridget et al.European journal of human genetics. 2003, Vol 11, Num 12, pp 945-950, issn 1018-4813, 6 p.Article