Publications for Bruce Bennetts
Publications for Bruce Bennetts
2012
2016
Shinar, Y., Obici, L., Aksentijevich, I., Bennetts,
B., Austrup, F., Ceccherini, I., Costa, J., De
Leener, A., Morris, M., et al (2012). Guidelines
for the genetic diagnosis of hereditary recurrent
fevers. Annals of the Rheumatic Diseases,
71(10), 1599-1605. <a
href="http://dx.doi.org/10.1136/annrheumdis-20
11-201271">[More Information]</a>
Ma, A., Grigg, J., Ho, G., Prokudin, I.,
Farnsworth, E., Holman, K., Cheng, A., Billson,
F., Martin, F., Fraser, C., Christodoulou, J.,
Flaherty, M., Bennetts, B., Jamieson, R., et al
(2016). Sporadic and Familial Congenital
Cataracts: Mutational Spectrum and new
Diagnoses using Next-Generation Sequencing.
Human Mutation, 37(4), 371-384. <a
href="http://dx.doi.org/10.1002/humu.22948">[
More Information]</a>
2015
Wong, K., Jackson, J., Whidborne, R., Mallon,
D., Bennetts, B., D'Orsogna, L. (2015).
Autosomal recessive transmission of TRAPS in a
family with a novel TNFRSF1A mutation.
Scandinavian Journal of Rheumatology, 44(3),
255-256. <a
href="http://dx.doi.org/10.3109/03009742.2015.
1005663">[More Information]</a>
Nash, B., Wright, D., Grigg, J., Bennetts, B.,
Jamieson, R. (2015). Retinal dystrophies,
genomic applications in diagnosis and prospects
for therapy. Translational Pediatrics, 4(2),
139-163. <a
href="http://dx.doi.org/10.3978/j.issn.2224-4336.
2015.04.03">[More Information]</a>
2014
Biggin, A., Briody, J., Ormshaw, E., Wong, K.,
Bennetts, B., Munns, C. (2014). Fracture during
Intravenous Bisphosphonate Treatment in a
Child with Osteogenesis Imperfecta: An
Argument for a More Frequent, Low-Dose
Treatment Regimen. Hormone Research in
Paediatrics, 81(3), 204-210. <a
href="http://dx.doi.org/10.1159/000355111">[M
ore Information]</a>
Bennetts, B., Caramins, M., Hsu, A., Lau, C.,
Mead, S., Meldrum, C., Smith, T., Suthers, G.,
Taylor, G., Cotton, R., et al (2014). Quality
standards for DNA sequence variation databases
to improve clinical management under
development in Australia. Applied and
Translational Genomics, 3(3), 54-57. <a
href="http://dx.doi.org/10.1016/j.atg.2014.07.00
2">[More Information]</a>
2013
Christie, L., Wotton, T., Bennetts, B., Wiley, V.,
Wilcken, B., Rogers, C., Boyle, J., Turner, C.,
Hansen, J., Hunter, M., et al (2013). Maternal
attitudes to newborn screening for fragile X
syndrome. American Journal of Medical
Genetics. Part A, 161A (2), 301-311. <a
href="http://dx.doi.org/10.1002/ajmg.a.35752">[
More Information]</a>
2011
Stark, Z., Storen, R., Bennetts, B., Savarirayan,
R., Jamieson, R. (2011). Isolated
hypogonadotropic hypogonadism with SOX2
mutation and anophthalmia/microphthalmia in
offspring. European Journal of Human Genetics,
19(7), 753-756. <a
href="http://dx.doi.org/10.1038/ejhg.2011.11">[
More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.ymgme.2009.0
8.007">[More Information]</a>
White, R., Ho, G., Schmidt, S., Scheffer, I.,
Fischer, A., Yendle, S., Bienvenu, T., Nectoux,
J., Ellaway, C., Darmanian, A., Cloosterman, D.,
Bennetts, B., Christodoulou, J., et al (2010).
Cyclin-Dependent Kinase-Like 5 (CDKL5)
Mutation Screening in Rett Syndrome and
Related Disorders. Twin Research and Human
Genetics, 13(2), 168-178. <a
href="http://dx.doi.org/10.1375/twin.13.2.168">[
More Information]</a>
2009
Hamvas, A., Nogee, L., Wegner, D., DePass, K.,
Christodoulou, J., Bennetts, B., McQuade, L.,
Gray, P., Deterding, R., Carroll, T. (2009).
Inherited Surfactant Deficiency Caused by
Uniparental Disomy of Rare Mutations in the
Surfactant Protein-B and ATP Binding
Cassette,Subfamily A, Member 3 Genes. The
Journal of Pediatrics, 155(6), 854-859. <a
href="http://dx.doi.org/10.1016/j.jpeds.2009.06.0
06">[More Information]</a>
2008
Gallego, P., Craig, M., Duffin, A., Bennetts, B.,
Jenkins, A., Hofer, S., Lam, A., Donaghue, K.
(2008). Association Between p.Leu54Met
Polymorphism at the Paraoxonase-1 Gene and
Plantar Fascia Thickness in Young Subjects With
Type 1 Diabetes. Diabetes Care, 31(8),
1585-1589. <a
Publications for Bruce Bennetts
href="http://dx.doi.org/10.2337/dc07-2236">[M
ore Information]</a>
2007
Hardwick, S., Reuter, K., Williamson, S.,
Vasudevan, V., Donald, J., Slater, K., Bennetts,
B., Bebbinton, A., Leonard, H., Williams, S.,
Christodoulou, J., et al (2007). Delineation of
large deletions of the MECP2 gene in Rett
syndrome patients, including a familial case with
a male proband. European Journal of Human
Genetics, 15(12), 1218-1229. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17712354">[More Information]</a>
Chiong, M., Bennetts, B., Strasser, S., Wilcken,
B. (2007). Fatal late-onset ornithine
transcarbamylase deficiency after coronary artery
bypass surgery. Medical Journal of Australia,
186(8), 418-419. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17437397">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/ajmg.a.32172">[
More Information]</a>
2006
Bugeja, M., Booth, D., Bennetts, B., Heard, R.,
Rubio, J., Stewart, G. (2006). An investigation of
polymorphisms in the 17q11.2-12 CC chemokine
gene cluster for association with multiple
sclerosis in Australians. BMC Medical Genetics,
7, 64-64. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16872505">[More Information]</a>
Bugeja, M., Booth, D., Bennetts, B., Heard, R.,
Stewart, G. (2006). An investigation of
polymorphisms in the 4q1 3.3-21.1 CXC
chemokine gene cluster for association with
multiple sclerosis in Australians. Multiple
Sclerosis: clinical and laboratory research,
12(6), 710-722. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17262998">[More Information]</a>
Hofer, S., Bennetts, B., Chan, A., Holloway, B.,
Karschimkus, C., Jenkins, A., Silink, M.,
Donaghue, K. (2006). Association between PON
1 polymorphisms, PON activity and diabetes
complications. Journal of Diabetes and Its
Complications, 20(5), 322-328. <a
href="http://dx.doi.org/10.1016/j.jdiacomp.2005.
08.008">[More Information]</a>
Thamotharampillai, K., Chan, A., Bennetts, B.,
Craig, M., Cusumano, J., Silink, M., Oates, P.,
Donaghue, K. (2006). Decline in
Neurophysiological Function After 7 Years in an
Adolescent Diabetic Cohort and the Role of
Aldose Reductase Gene Polymorphisms.
Diabetes Care, 29(9), 2053-2057. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16936152">[More Information]</a>
Ades, L., Sullivan, K., Biggin, A., Haan, E.,
Brett, M., Holman, K., Dixon, J., Robertson, S.,
Holmes, A., Rogers, J., Bennetts, B. (2006).
FBN1, TGFBR1, and the
Marfan-craniosynostosis/mental retardation
disorders revisited. American Journal of Medical
Genetics. Part A, 140(10), 1047-1058. <a
href="http://dx.doi.org/10.1002/ajmg.a.31202">[
More Information]</a>
Chiong, M., Marinaki, M., Duley, J., Bennetts,
B., Ouvrier, R., Christodoulou, J. (2006).
Lesch-Nyhan disease in a 20-year-old man
incorrectly described as developing 'cerebral
palsy' after general anaesthesia in infancy.
Journal of Inherited Metabolic Disease (JIMD),
29(4), 594-DOI 10.1007/s10545-006-0281-4. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16826447">[More Information]</a>
Waddell, L., Wiley, V., Carpenter, K., Bennetts,
B., Angel, L., Andresen, B., Wilcken, B. (2006).
Medium-chain acyl-CoA dehydrogenase
deficiency: genotype-biochemical phenotype
correlations. Molecular Genetics and
Metabolism, 87(1), 32-39. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16291504">[More Information]</a>
Thamotharampillai, K., Craig, M., Chan, A.,
Bennetts, B., Silink, M., Cusumano, J.,
Donaghue, K. (2006). The role of aldose
reductase gene (AKR1B1) polymorphisms in
neurophysiological decline in adolescents with
type 1 diabetes - a seven-year longitudinal study.
Hormone Research, 65(Suppl. 4), 16-16.
2005
Bugeja, M., Booth, D., Bennetts, B., Heard, R.,
Burgner, D., Stewart, G. (2005). An investigation
of NOS2A promoter polymorphisms in
Australian multiple sclerosis patients. European
Journal of Human Genetics, 13(7), 815-822. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15856071">[More Information]</a>
Biggin, A., Henke, R., Bennetts, B., Thorburn,
D., Christodoulou, J. (2005). Mutation screening
Publications for Bruce Bennetts
of the mitochondrial genome using denaturing
high-performance liquid chromatography.
Molecular Genetics and Metabolism, 84(1),
61-74. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15639196">[More Information]</a>
Neas, K., Bennetts, B., Carpenter, K., White, R.,
Kirk, E., Wilson, M., Kelley, R., Baric, I.,
Christodoulou, J. (2005). OPA3 mutation
screening in patients with unexplained
3-methylglutaconic aciduria. Journal of Inherited
Metabolic Disease (JIMD), 28(4), 525-532. <a
href="http://dx.doi.org/10.1007/s10545-005-052
5-8">[More Information]</a>
Donaghue, K., Margan, S., Chan, A., Holloway,
B., Silink, M., Rangel, T., Bennetts, B. (2005).
The association of aldose reductase gene
(AKR1B1)
polymorphisms with diabetic neuropathy in
adolescents. Diabetic Medicine, 22(10),
1315-1320. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16176189">[More Information]</a>
2004
Ginn, S., Smyth, C., Wong, M., Bennetts, B.,
Rowe, P., Alexander, I. (2004). A Novel
Splice-Site Mutation In The Common Gamma
Chain (Gammac) Gene Il2Rg Results In
X-Linked Severe Combined Immunodeficiency
With An Atypical Nk+ Phenotype. Human
Mutation, 23(5), 522-523.
Bugeja, M., Booth, D., Bennetts, B., Guerin, J.,
Kaldor, J., Stewart, G. (2004). Analysis Of The
Ccl3-L1 Gene For Association With Hiv-1
Susceptibility And Disease Progression. AIDS,
18(7), 1069-1071.
Teutsch, S., Booth, D., Bennetts, B., Heard, R.,
Stewart, G. (2004). Association Of Common T
Cell Activation Gene Polymorphisms With
Multiple Sclerosis In Australian Patients. Journal
of Neuroimmunology, 148(2), 218-30. <a
href="http://dx.doi.org/10.1016/j.jneuroim.2003.
12.003">[More Information]</a>
Biggin, A., Holman, K., Brett, M., Bennetts, B.,
Ades, L. (2004). Detection Of Thirty Novel
FBN1 Mutations In Patients With Marfan
Syndrome Or A Related Fibrillinopathy. Human
Mutation, 23(1), 99-106.
Clarke, A., Pelka, G., Tam, P., Lahooti, H.,
Ellaway, C., Bennetts, B., Watson, C., et al
(2004). Mutations Of Cdkl5 Cause A Severe
Neurodevelopmental Disorder With Infantile
Spasms And Mental Retardation. American
Journal of Human Genetics, 75, 1079-1093.
2003
Ban, M., Sawcer, S., Heard, R., Bennetts, B.,
Adams, S., Booth, D., Perich, V., Setakis, E.,
Compston, A., Stewart, G. (2003). A
genome-wide screen for linkage disequilibrium
in Australian HLA-DRB1*1501 positive
multiple sclerosis patients. Journal of
Neuroimmunology, 143(1-2), 60-64. <a
href="http://dx.doi.org/10.1016/j.jneuroim.2003.
08.012">[More Information]</a>
Weaving, L., Williamson, S., Bennetts, B.,
Davis, M., Ellaway, C., Leonard, H., Thong, M.,
Delatycki, M., Thompson, E., Laing, N.,
Christodoulou, J. (2003). Effects of MECP2
mutation type, location and X-inactivation in
modulating Rett Syndrome phenotype. American
Journal of Medical Genetics. Part A, 118A,
103-114.
Urwin, R., Bennetts, B., Wilcken, B.,
Lampropoulos, B., Beumont, P., Russell, J.,
Tanner, S., Nunn, K. (2003). Gene-gene
interaction between the monoamine oxidase A
gene and solute carrier family 6
(neurotransmitter transporter, noradrenalin)
member 2 gene in anorexia nervose (restrictive
subtype). European Journal of Human Genetics,
11(12), 945-950.
Teutsch, S., Booth, D., Bennetts, B., Heard, R.,
Stewart, G. (2003). Identification of 11 novel and
common single nucleotide polymorphisms in the
interleukin-7 receptor-alpha gene and their
associations with multiple sclerosis. European
Journal of Human Genetics, 11(7), 509-515.
Wiley, V., Carpenter, K., Bennetts, B., Wilcken,
B. (2003). Information overload - new
technologies, can we store the data? Southeast
Asian Journal of Tropical Medicine and Public
Health, 34(S3), 59-62.
Urwin, R., Bennetts, B., Wilcken, B., Beumont,
P., Russell, J., Nunn, K. (2003). Investigation of
epistasis between the serotonin transporter and
norepinephrine transproter genes in anorexia
nervosa. Neuropsychopharmacology, 28(7),
1351-1355.
Ades, L., Holman, K., Brett, M., Edwards, M.,
Bennetts, B. (2004). Ectopia Lentis Phenotypes
And The Fbn1 Gene. American Journal of
Medical Genetics. Part A, 126A (3), 284-289.
Christodoulou, J., Grimm, A., Maher, T.,
Bennetts, B. (2003). RettBASE: the IRSA
MECP2 variation database-A new mutation
database in evolution. Human Mutation, 21(5),
466-472.
Weaving, L., Christodoulou, J., Williamson, S.,
Friend, K., McKenzie, O., Archer, H., Evans, J.,
2002
Publications for Bruce Bennetts
Ban, M., Stewart, G., Bennetts, B., Heard, R.,
Simmons, R., Maranian, M., Compston, A.,
Sawcer, S. (2002). A genome screen for linkage
in Australian sibling-pairs with multiple
sclerosis. Genes and Immunity, 3(8), 464-469.
Milledge, J., Shaw, P., Mansour, A., Williamson,
S., Bennetts, B., Roscioli, T., Curtin, J.,
Christodoulou, J. (2002). Allogeneic bone
marrow transplantation: cure for familial
Mediterranean fever. Blood, 100(3), 774-777.
Urwin, R., Bennetts, B., Wilcken, B.,
Lampropolous, B., Beumont, P., Clarke, S.,
Russell, J., Tanner, S., Nunn, K. (2002).
Anorexia nervosa (restrictive subtype) is
associated with a polymorphism in the novel
noreprinephrine transporter gene promoter
polymorphic region. Molecular Psychiatry, 7(6),
652-657.
Buhler, M., Craig, M., Donaghue, K., Badhwar,
P., Willis, J., Manolios, N., Tait, B., Silink, M.,
Bennetts, B., Stewart, G. (2002). CCR5
Genotyping in an Australian and New Zealand
type 1 Diabetes Cohort. Autoimmunity, 65(7),
457-461.
Kao, Y., Donaghue, K., Chan, A., Bennetts, B.,
Knight, J., Silink, M. (2002). Paraoxonase gene
cluster is a genetic marker for early
microvascular complications in Type 1 diabetes.
Diabetic Medicine, 19(3), 212-215.
2001
Bennetts, B., Donaghue, K., Silink, M.,
Kordonouri, O., James, R., Chan, A., Kao, Y.,
Danne, T. (2001). Modulation by blood glucose
levels of activity and concentration of
paraoxonase in young patients with Type 1
diabetes mellitus. Metabolism: Clinical and
Experimental, 50, 657-660.
Hughes, J., Weston, S., Bennetts, B., Angulo,,
R., Prasad, M., Jaworski, R., Jolles, S., Kossard,
S., Fox, S., Benson, E. (2001). The application of
a PCR technique for the detection of
immunoglobulin heavy chain gene
rearrangements in fresh or paraffin-embedded
skin tissue. Pathology, 33, 222-225.
2000
Huang, Q., Teutsch, S., Buhler, M., Bennetts, B.,
Heard, R., Manolios, N., Stewart, G. (2000).
Evaluation of the Apo-1/Fas promoter Mva 1
polymorphism in multiple sclerosis. Multiple
Sclerosis: clinical and laboratory research, 6(1),
14-18.