Publications for John Christodoulou
Publications for John Christodoulou
2016
Kondo, M., Gray, L., Pelka, G., Leang, S.,
Christodoulou, J., Tam, P., Hannan, A. (2016).
Affective dysfunction in a mouse model of Rett
syndrome: Therapeutic effects of environmental
stimulation and physical activity. Developmental
Neurobiology, 76(2), 39-43. <a
href="http://dx.doi.org/10.1002/dneu.22308">[M
ore Information]</a>
Smith, T., Ho, G., Christodoulou, J., Price, E.,
Onadim, Z., Gauthier-Villars, M., Dehainault, C.,
Houdayer, C., Parfait, B., Van Minkelen, R., et al
(2016). Extensive Variation in the Mutation Rate
Between and Within Human Genes Associated
with Mendelian Disease. Human Mutation,
37(5), 488-494. <a
href="http://dx.doi.org/10.1002/humu.22967">[
More Information]</a>
Downs, J., Torode, I., Ellaway, C., Jacoby, P.,
Bunting, C., Wong, K., Christodoulou, J.,
Leonard, H. (2016). Family satisfaction
following spinal fusion in Rett syndrome.
Developmental Neurorehabilitation, 19(1),
31-37. <a
href="http://dx.doi.org/10.3109/17518423.2014.
898107">[More Information]</a>
Bjoraker, K., Swanson, M., Coughlin, C.,
Christodoulou, J., Tan, E., Fergeson, M., Dyack,
S., Ahmad, A., Friederich, M., Spector, E., et al
(2016). Neurodevelopmental Outcome and
Treatment Efficacy of Benzoate and
Dextromethorphan in Siblings with Attenuated
Nonketotic Hyperglycinemia. The Journal of
Pediatrics, 170, 234-239. <a
href="http://dx.doi.org/10.1016/j.jpeds.2015.12.0
27">[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>
Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li,
J., Gold, W., Ades, L., Keating, B., Xu, X., Teo,
J., Christodoulou, J., et al (2016). Utility of
next-generation sequencing technologies for the
efficient genetic resolution of haematological
disorders. Clinical Genetics, 89(2), 163-172. <a
href="http://dx.doi.org/10.1111/cge.12573">[Mo
re Information]</a>
2015
Guo, Y., Menezes, M., Menezes, M., Liang, J.,
Li, D., Riley, L., Clarke, N., Andrews, P., Tian,
L., Webster, R., Christodoulou, J., et al (2015).
Delayed diagnosis of congenital myasthenia due
to associated mitochondrial enzyme defect.
Neuromuscular Disorders, 25, 257-261. <a
href="http://dx.doi.org/10.1016/j.nmd.2014.11.0
17">[More Information]</a>
Williamson, S., Ellaway, C., Peters, G., Pelka,
G., Tam, P., Christodoulou, J. (2015). Deletion
of protein tyrosine phosphatase, non-receptor
type 4 (PTPN4) in twins with a Rett
syndrome-like phenotype. European Journal of
Human Genetics, 23(9), 1171-1175. <a
href="http://dx.doi.org/10.1038/ejhg.2014.249">
[More Information]</a>
Schwahn, B., Spronsen, F., Belaidi, A., Bowha,
S., Christodoulou, J., Derks, T., Hennermann, J.,
Jameson, E., König, K., McGregor, T., et al
(2015). Efficacy and safety of cyclic
pyranopterin monophosphate substitution in
severe molybdenum cofactor deficiency type A:
A prospective cohort study. The Lancet,
386(10007), 1955-1963. <a
href="http://dx.doi.org/10.1016/S0140-6736(15)
00124-5">[More Information]</a>
Gold, W., Lacina, T., Cantrill, L., Christodoulou,
J. (2015). MeCP2 deficiency is associated with
reduced levels of tubulin acetylation and can be
restored using HDAC6 inhibitors. Journal of
Molecular Medicine, 93(1), 63-72. <a
href="http://dx.doi.org/10.1007/s00109-014-120
2-x">[More Information]</a>
Menezes, M., Guo, Y., Zhang, J., Riley, L.,
Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z.,
Glessner, J., Davis, R., Sue, C., Alexander, S.,
Christodoulou, J., et al (2015). Mutation in
mitochondrial ribosomal protein S7 (MRPS7)
causes congenital sensorineural deafness,
progressive hepatic and renal failure and lactic
acidemia. Human Molecular Genetics, 24(8),
2297-2307. <a
href="http://dx.doi.org/10.1093/hmg/ddu747">[
More Information]</a>
Ilkovski, B., Pagnamenta, A., O'Grady, G.,
Kinoshita, T., Howard, M., Lek, M., Thomas, B.,
Turner, A., Christodoulou, J., Sillence, D.,
Waddell, L., Brilot-Turville, F., North, K.,
Clarke, N., et al (2015). Mutations in PIGY:
expanding the phenotype of inherited
glycosylphosphatidylinositol deficiencies.
Human Molecular Genetics, 24(21), 6146-6159.
<a
href="http://dx.doi.org/10.1093/hmg/ddv331">[
More Information]</a>
Al Hafid, N., Christodoulou, J. (2015).
Phenylketonuria: a review of current and future
treatments. Translational Pediatrics, 4(4),
Publications for John Christodoulou
304-317. <a
href="http://dx.doi.org/10.3978/j.issn.2224-4336.
2015.10.07">[More Information]</a>
Mitochondrion, 15, 10-17. <a
href="http://dx.doi.org/10.1016/j.mito.2014.02.0
12">[More Information]</a>
Gold, W., Christodoulou, J. (2015). The utility of
next-generation sequencing in gene discovery for
mutation-negative patients with Rett syndrome.
Frontiers in Cellular Neuroscience, 9, 1-6. <a
href="http://dx.doi.org/10.3389/fncel.2015.0026
6">[More Information]</a>
Menezes, M., Riley, L., Christodoulou, J. (2014).
Mitochondrial Respiratory Chain Disorders in
Childhood: Insights into Diagnosis and
Management in the New Era of Genomic
Medicine. Biochimica et Biophysica Acta.
Molecular and Cell Biology of Lipids, 1840 (4),
1368-1379. <a
href="http://dx.doi.org/10.1016/j.bbagen.2013.12
.025">[More Information]</a>
Fehr, S., Leonard, H., Ho, G., Williams, S., de
Klerk, N., Forbes, D., Christodoulou, J., Downs,
J. (2015). There is variability in the attainment of
developmental milestones in the CDKL5
disorder. Journal of Neurodevelopmental
Disorders, 7(1), 1-13. <a
href="http://dx.doi.org/10.1186/1866-1955-7-2"
>[More Information]</a>
2014
Lim, S., Smith, K., Stroud, D., Compton, A.,
Tucker, E., Dasvarma, A., Gandolfo, L., Marum,
J., McKenzie, M., Peters, H., Procopis, P.,
Wilcken, B., Christodoulou, J., et al (2014). A
Founder Mutation in PET100 Causes Isolated
Complex IV Deficiency in Lebanese Individuals
with Leigh Syndrome. American Journal of
Human Genetics, 94(2), 209-222. <a
href="http://dx.doi.org/10.1016/j.ajhg.2013.12.0
15">[More Information]</a>
Downs, J., Wong, K., Ravikumara, M., Ellaway,
C., Elliott, E., Christodoulou, J., Jacoby, P.,
Leonard, H. (2014). Experience of Gastrostomy
Using a Quality Care Framework: The Example
of Rett Syndrome. Medicine, 93(28), 1-9. <a
href="http://dx.doi.org/10.1097/MD.0000000000
000328">[More Information]</a>
Balasubramaniam, S., Duley, J., Christodoulou,
J. (2014). Inborn errors of pyrimidine
metabolism: clinical update and therapy. Journal
of Inherited Metabolic Disease (JIMD), 37(5),
687-698. <a
href="http://dx.doi.org/10.1007/s10545-014-974
2-3">[More Information]</a>
Guo, Y., Kartawinata, M., Li, J., Pickett, H., Teo,
J., Kilo, T., Barbaro, P., Keating, B., Chen, Y.,
Tian, L., Al-Odaib, A., Reddel, R.,
Christodoulou, J., Bryan, T., et al (2014).
Inherited bone marrow failure associated with
germline mutation of ACD, the gene encoding
telomere protein TPP1. Blood, 124(18),
2767-2774. <a
href="http://dx.doi.org/10.1182/blood-2014-08-5
96445">[More Information]</a>
Gold, W., Williamson, S., Kaur, S., Hargreaves,
I., Land, J., Pelka, G., Tam, P., Christodoulou, J.
(2014). Mitochondrial dysfunction in the skeletal
muscle of a mouse model of Rett syndrome
(RTT): Implications for the disease phenotype.
Miller, D., Menezes, M., Simons, C., Riley, L.,
Cooper, S., Grimmond, S., Thorburn, D.,
Christodoulou, J., Taft, R. (2014). Rapid
identification of a novel complex I MT-ND3
m.10134C>A mutation in a Leigh syndrome
patient. PloS One, 9(8), 1-6. <a
href="http://dx.doi.org/10.1371/journal.pone.010
4879">[More Information]</a>
Ho, G., Alexander, I., Bhattacharya, K.,
Dennison, B., Ellaway, C., Thompson, S.,
Wilcken, B., Christodoulou, J. (2014). The
Molecular Bases of Phenylketonuria (PKU) in
New South Wales, Australia: Mutation Profile
and Correlation with Tetrahydrobiopterin (BH4)
Responsiveness. JIMD Reports, 14, 55-65. <a
href="http://dx.doi.org/10.1007/8904_2013_284"
>[More Information]</a>
Foley, A., Menezes, M., Pandraud, A., Gonzalez,
M., Al-Odaib, A., Abrams, A., Sugano, K.,
Yonezawa, A., Manzur, A., Burns, J., Wang, M.,
Carpenter, K., Lek, M., Gold, W., Ouvrier, R.,
Christodoulou, J., et al (2014). Treatable
childhood neuronopathy caused by mutations in
riboflavin transporter RFVT2. Brain, 137(Pt 1),
44-56. <a
href="http://dx.doi.org/10.1093/brain/awt315">[
More Information]</a>
Trakadis, Y., Alfares, A., Bodamer, O.,
Buyukavici, M., Christodoulou, J., Connor, P.,
Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H.,
Echenne, B., Tchan, M., et al (2014). Update on
transcobalamin deficiency: clinical presentation,
treatment and outcome. Journal of Inherited
Metabolic Disease (JIMD), 37(3), 461-473. <a
href="http://dx.doi.org/10.1007/s10545-013-966
4-5">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1038/ejhg.2012.208">
Publications for John Christodoulou
[More Information]</a>
Garg, P., Carpenter, K., Chong, S.,
Christodoulou, J. (2013). A Pilot Study of the
Effect of (E, E)-2, 4-Undecadienal on the
Offensive Odour of Trimethylamine. JIMD
Reports, 8, 11-15.
Liu, X., Xie, D., Yuan, H., de Brouwer, A.,
Christodoulou, J., Yan, D. (2013). Hearing loss
and PRPS1 mutations: Wide spectrum of
phenotypes and potential therapy. International
Journal of Audiology, 52(1), 23-28. <a
href="http://dx.doi.org/10.3109/14992027.2012.
736032">[More Information]</a>
Ho, G., Reichardt, J., Christodoulou, J. (2013). In
vitro read-through of phenylalanine hydroxylase
(PAH) nonsense mutations using
aminoglycosides: A potential therapy for
phenylketonuria. Journal of Inherited Metabolic
Disease (JIMD), 36(6), 955-959. <a
href="http://dx.doi.org/10.1007/s10545-013-960
2-6">[More Information]</a>
Gaignard, P., Menezes, M., Schiff, M., Bayot,
A., Rak, M., Oiger de Baulny, H., Su, C.,
Gilleron, M., Lombes, A., Abida, H., Cooper, S.,
Christodoulou, J., et al (2013). Mutations in
CYC1, encoding cytochrome c1 subunit of
respiratory chain complex III, cause
insulin-responsive hyperglycemia. American
Journal of Human Genetics, 93(2), 384-389. <a
href="http://dx.doi.org/10.1016/j.ajhg.2013.06.0
15">[More Information]</a>
Lim, S., Friemel, M., Marum, J., Tucker, E.,
Bruno, D., Riley, L., Christodoulou, J., Kirk, E.,
Boneh, A., DeGennaro, C., et al (2013).
Mutations in LYRM4, encoding iron-sulfur
cluster biogenesis factor ISD11, cause deficiency
of multiple respiratory chain complexes. Human
Molecular Genetics, 22(22), 4460-4473. <a
href="http://dx.doi.org/10.1093/hmg/ddt295">[
More Information]</a>
Tucker, E., Wanschers, B., Szklarczyk, R.,
Mountford, H., Wijeyeratne, X., van den Brand,
M., Leenders, A., Rodenburg, R., Reljic, B.,
Compton, A., Christodoulou, J., et al (2013).
Mutations in the UQCC1-Interacting Protein,
UQCC2, Cause Human Complex III Deficiency
Associated with Perturbed Cytochrome b Protein
Expression. PLoS Genetics, 9(12), 1-15. <a
href="http://dx.doi.org/10.1371/journal.pgen.100
4034">[More Information]</a>
Riley, L., Menezes, M., Rudinger-Thirion, J.,
Duff, R., de Lonlay, P., Rotig, A., Tchan, M.,
Davis, M., Cooper, S., Christodoulou, J. (2013).
Phenotypic variability and identification of novel
YARS2 mutations in YARS2 mitochondrial
myopathy, lactic acidosis and sideroblastic
anaemia. Orphanet Journal of Rare Diseases,
8(1), 1-11. <a
href="http://dx.doi.org/10.1186/1750-1172-8-19
3">[More Information]</a>
Collins, D., Angles, J., Christodoulou, J.,
Spielman, D., Lindsay, S., Boyd, J.,
Krockenberger, M. (2013). Severe Subacute
Necrotizing Encephalopathy (Leigh-like
Syndrome) in American Staffordshire Bull
Terrier Dogs. Journal of Comparative
Pathology, 148(4), 345-353. <a
href="http://dx.doi.org/10.1016/j.jcpa.2012.08.00
8">[More Information]</a>
Fehr, S., Wilson, M., Downs, J., Williams, S.,
Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli,
R., Psoni, S., Christodoulou, J., et al (2013). The
CDKL5 disorder is an independent clinical entity
associated with early-onset encephalopathy.
European Journal of Human Genetics, 21(3),
266-273. <a
href="http://dx.doi.org/10.1038/ejhg.2012.156">
[More Information]</a>
Tchan, M., Wilcken, B., Christodoulou, J.
(2013). The mild form of menkes disease: a 34
year progress report on the original case. JIMD
Reports, 9, 81-84. <a
href="http://dx.doi.org/10.1007/8904_2012_183"
>[More Information]</a>
2012
Williamson, S., Giudici, L., Kilstrup-Nielsen, C.,
Gold, W., Pelka, G., Tam, P., Grimm, A., Prodi,
D., Landsberger, N., Christodoulou, J. (2012). A
novel transcript of cyclin-dependent kinase-like
5 (CDKL5) has an alternative C-terminus and is
the predominant transcript in brain. Human
Genetics, 131(2), 187-200. <a
href="http://dx.doi.org/10.1007/s00439-011-105
8-x">[More Information]</a>
Cotton, R., Auerbach, A., Brown, A., Carrera, P.,
Christodoulou, J., Claustres, M., Compton, J.,
Cox, D., De Baere, E., den Dunnen, J., et al
(2012). A structured simple form for ordering
genetic tests is needed to ensure coupling of
clinical detail (phenotype) with DNA variants
(genotype) to ensure utility in publication and
databases. Human Mutation, 28(10), 931-932. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17726697">[More Information]</a>
Alodaib, A., Carpenter, K., Wiley, V., Wotton,
T., Christodoulou, J., Wilcken, B. (2012).
Homocysteine Measurement in Dried Blood Spot
for Neonatal Detection of Homocystinurias.
JIMD Reports, 5, 1-6.
De Greef, E., Christodoulou, J., Alexander, I.,
Shun, A., O'Loughlin, E., Thorburn, D., Jermyn,
V., Stormon, M. (2012). Mitochondrial
Respiratory Chain Hepatopathies:
Role of Liver Transplantation. A Case Series of
Publications for John Christodoulou
Five Patients. JIMD Reports, 4, 5-12.
Huppke, P., Brendel, C., Korenke, G.,
Marquardt, I., Donsante, A., Yi, L., Hicks, J.,
Steinbach, P., Wilson, C., Elpeleg, O.,
Christodoulou, J., et al (2012). Molecular and
Biochemical Characterization of a Unique
Mutation in CCS, the Human Copper Chaperone
to Superoxide Dismutase. Human Mutation,
33(8), 1207-1215. <a
href="http://dx.doi.org/10.1002/humu.22099">[
More Information]</a>
Calvo, S., Compton, A., Hershman, S., Lim, S.,
Lieber, D., Tucker, E., Laskowski, A., Garone,
C., Liu, S., Jaffe, D., Christodoulou, J., et al
(2012). Molecular diagnosis of infantile
mitochondrial disease with targeted
next-generation sequencing. Science
Translational Medicine, 4(118), 1-15. <a
href="http://dx.doi.org/10.1126/scitranslmed.300
3310">[More Information]</a>
Huppke, P., Brendel, C., Kalscheuer, V.,
Korenke, G., Marquardt, I., Freisinger, P.,
Christodoulou, J., Hillebrand, M., Pitelet, G.,
Wilson, C., et al (2012). Mutations in SLC33A1
cause a lethal autosomal-recessive disorder with
congenital cataracts, hearing loss, and low serum
copper and ceruloplasmin. American Journal of
Human Genetics, 90(1), 61-68. <a
href="http://dx.doi.org/10.1016/j.ajhg.2011.11.0
30">[More Information]</a>
Christodoulou, J., Ho, G., Gold, W., Williamson,
S. (2012). Pathogenicity of C-terminal mutations
in CDKL5. Journal of Pediatric Epilepsy, 1,
185-186. <a
href="http://dx.doi.org/10.3233/PEP-2012-029">
[More Information]</a>
Moran, R., van Kuilenburg, A., Duley, J.,
Nabuurs, S., Retno-Fitri, A., Christodoulou, J.,
Roelofsen, J., Yntema, H., Friedman, N., van
Bokhoven, H., et al (2012).
Phosphoribosylpyrophosphate s
Synthetase Superactivity and Recurrent
Infections is Caused by a p.Val142Leu Mutation
in PRS-I. American Journal of Medical Genetics.
Part A, 158A (2), 455-460. <a
href="http://dx.doi.org/10.1002/ajmg.a.34428">[
More Information]</a>
Georgiou, T., Ho, G., Vogazianos, M.,
Dionysiou, M., Nicolaou, A., Chappa, G.,
Nicolaides, P., Stylianidou, G., Christodoulou, J.,
Drousiotou, A. (2012). The spectrum of
mutations identified in Cypriot patients with
phenylalanine hydroxylase deficiency detected
through neonatal screening. Clinical
Biochemistry, 45(7-8), 588-592. <a
href="http://dx.doi.org/10.1016/j.clinbiochem.20
12.01.026">[More Information]</a>
Armani, R., Archer, H., Clarke, A., Vasudevan,
P., Zweier, C., Ho, G., Williamson, S.,
Cloosterman, D., Yang, N., Christodoulou, J.
(2012). Transcription factor 4 and myocyte
enhancer factor 2C mutations are not common
causes of Rett syndrome. American Journal of
Medical Genetics. Part A, 158A (4), 713-719. <a
href="http://dx.doi.org/10.1002/ajmg.a.34206">[
More Information]</a>
Christodoulou, J. (2012). Trimethylaminuria: An
under-recognised and socially debilitating
metabolic disorder. Journal of Paediatrics and
Child Health, 48(3), E153-E155. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
0.01978.x">[More Information]</a>
2011
Alodaib, A., Carpenter, K., Wiley, V., Sim, K.,
Christodoulou, J., Wilcken, B. (2011). An
improved ultra performance liquid
chromatography-tandem mass spectrometry
method for the determination of alloisoleucine
and branched chain amino acids in dried blood
samples. Annals of Clinical Biochemistry, 48(5),
468-470. <a
href="http://dx.doi.org/10.1258/acb.2011.010283
">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/humu.21399">[
More Information]</a>
Tucker, E., Hershman, S., Kohrer, C.,
Belcher-Timme, C., Patel, J., Goldberger, O.,
Christodoulou, J., Silberstein, J., McKenzie, M.,
Ryan, M., et al (2011). Mutations in MTFMT
underlie a human disorder of formylation causing
impaired mitochondrial translation. Cell
Metabolism, 14(3), 428-434. <a
href="http://dx.doi.org/10.1016/j.cmet.2011.07.0
10">[More Information]</a>
Duley, J., Christodoulou, J., de Brouwer, A.
(2011). The PRPP Synthetase Spectrum: What
Does it Demonstrate About Nucleotide
Syndromes? Nucleosides, Nucleotides and
Nucleic Acids: An International Journal for
Rapid Communication, 30(12), 1129-1139. <a
href="http://dx.doi.org/10.1080/15257770.2011.
591747">[More Information]</a>
2010
Harikrishnan, K., Bayles, R., Ciccotosto, G.,
Maxwell, S., Cappai, R., Pelka, G., Tam, P.,
Christodoulou, J., El-Osta, A. (2010). Alleviating
Publications for John Christodoulou
Transcriptional Inhibition of the Norepinephrine
Slc6a2 Transporter Gene in Depolarized
Neurons. The Journal of Neuroscience, 30(4),
1494-1501. <a
href="http://dx.doi.org/10.1523/JNEUROSCI.46
75-09.2010">[More Information]</a>
YARS2, Causes Myopathy, Lactic Acidosis, and
Sideroblastic Anemia-MLASA Syndrome.
American Journal of Human Genetics, 87(1),
52-59. <a
href="http://dx.doi.org/10.1016/j.ajhg.2010.06.0
01">[More Information]</a>
de Brouwer, A., Dudley, J., Christodoulou, J.
(2010). Arts Syndrome. Australian Rural Doctor.
Chung, S., Vanbellinghen, J., Mullins, J.,
Robinson, A., Hantke, J., Hammond, C., Gilbert,
D., Freilinger, M., Ryan, M., Kruer, M.,
Christodoulou, J., et al (2010).
Pathophysiological Mechanisms of Dominant
and Recessive GLRA1 Mutations in
Hyperekplexia. The Journal of Neuroscience,
30(28), 9612-9620. <a
href="http://dx.doi.org/10.1523/JNEUROSCI.17
63-10.2010">[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>
Gibson, J., Slobedman, B., Harikrishnan, K.,
Williamson, S., Minchenko, D., El-Osta, A.,
Stern, J., Christodoulou, J. (2010). Downstream
targets of methyl CpG binding protein 2 and their
abnormal expression in the frontal cortex of the
human Rett syndrome brain. BMC Neuroscience,
11(53), 53-1-53-16. <a
href="http://dx.doi.org/10.1186/1471-2202-11-5
3">[More Information]</a>
Hynes, K., Tarpey, P., Dibbens, L., Bayly, M.,
Berkovic, S., Smith, R., Al Raisi, Z., Turner, S.,
Brown, N., Desai, T., Christodoulou, J., et al
(2010). Epilepsy and mental retardation limited
to females with PCDH19 mutations can present
de novo or in single generation families. Journal
of Medical Genetics, 47(3), 211-216. <a
href="http://dx.doi.org/10.1136/jmg.2009.06881
7">[More Information]</a>
Relf, B., Larkin, E., de Torres, C., Baur, L.,
Christodoulou, J., Waters, K. (2010).
Genome-wide linkage of obstructive sleep
apnoea and high-density lipoprotein cholesterol
in a Filipino family: bivariate linkage analysis of
obstructive sleep apnoea. Journal of Sleep
Research, 19(2), 349-357. <a
href="http://dx.doi.org/10.1111/j.1365-2869.200
9.00797.x">[More Information]</a>
Trent, R., Otlowski, M., Ralston, M., Lonsdale,
L., Young, M., Suthers, G., Griffiths, P.,
Delatycki, M., Christodoulou, J.,
Barlow-Stewart, K. (2010). Medical Genetic
Testing: Information for health professionals,
NHMRC Publication reference: E99, (pp. vi 94). Canberra, Australia: Australian Government
National Health and Medical Research Council.
Riley, L., Cooper, S., Hickey, P.,
Rudinger-Thirion, J., McKenzie, M., Compton,
A., Lim, S., Thorburn, D., Ryan, M., Giege, R.,
Christodoulou, J., et al (2010). Mutation of the
Mitochondrial Tyrosyl-tRNA Synthetase Gene,
de Brouwer, A., van Bokhoven, H., Nabuurs, S.,
Arts, W., Christodoulou, J., Duley, J. (2010).
PRPS1 mutations: four distinct syndromes and
potential treatment. American Journal of Human
Genetics, 86(4), 506-518. <a
href="http://dx.doi.org/10.1016/j.ajhg.2010.02.0
24">[More Information]</a>
Neul, J., Kaufmann, W., Glaze, D.,
Christodoulou, J., Clarke, A., Bahi-Buisson, N.,
Leonard, H., Bailey, M., Schanen, N., Zappella,
M., et al (2010). Rett syndrome: revised
diagnostic criteria and nomenclature. Annals of
Neurology, 68(6), 944-950. <a
href="http://dx.doi.org/10.1002/ana.22124">[Mo
re Information]</a>
Bebbington, A., Percy, A., Christodoulou, J.,
Ravine, D., Ho, G., Jacoby, P., Anderson, A.,
Pineda, M., Ben Zeev, B., Bahi-Buisson, N., et al
(2010). Updating the profile of C-terminal
MECP2 deletions in Rett syndrome. Journal of
Medical Genetics, 47, 242-248. <a
href="http://dx.doi.org/10.1136/jmg.2009.07255
3">[More Information]</a>
2009
Bijarnia, S., Vimpani, A., Smith, R., Pacey, V.,
O'Grady, H., Christodoulou, J., Sillence, D.
(2009). Combined enzyme replacement and
haematopoietic stem cell transplantation in
Hurler syndrome. Journal of Paediatrics and
Child Health, 45, 469-472. <a
href="http://dx.doi.org/10.1111/j.1440-1754.200
9.01537.x">[More Information]</a>
Shanti, B., Silink, M., Bhattacharya, K., Howard,
N., Carpenter, K., Fietz, M., Clayton, P.,
Christodoulou, J. (2009). Congenital disorder of
glycosylation type Ia: Heterogeneity in the
clinical presentation from multivisceral failure to
hyperinsulinaemic hypoglycaemia as leading
symptoms in three infants with
phosphomannomutase deficiency. Journal of
Inherited Metabolic Disease (JIMD), Short
Report #166 - online, 1-11. <a
Publications for John Christodoulou
href="http://dx.doi.org/10.1007/s10545-009-118
0-2">[More Information]</a>
Wilcken, B., Haas, M., Joy, P., Wiley, V.,
Bowling, F., Carpenter, K., Christodoulou, J.,
Cowley, D., Ellaway, C., Fletcher, J., et al
(2009). Expanded Newborn Screening: Outcome
in Screened and Unscreened Patients at Age 6
Years. Pediatrics (English Edition), 124(2),
e241-e248. <a
href="http://dx.doi.org/10.1542/peds.2008-0586"
>[More Information]</a>
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>
Ben Zeev, B., Bebbington, A., Ho, G., Leonard,
H., De Klerk, N., Gak, E., Vecksler, M.,
Christodoulou, J. (2009). The common BDNF
polymorphism may be a modifier of disease
severity in Rett syndrome. Neurology, 72(14),
1242-1247. <a
href="http://dx.doi.org/10.1212/01.wnl.0000345
664.72220.6a">[More Information]</a>
2008
de Brouwer, A., Duley, J., Christodoulou, J.
(2008). Arts Syndrome. GeneReviews.
Ho, G., Walter, J., Christodoulou, J. (2008).
Costeff optic atrophy syndrome: New clinical
case and novel molecular findings. Journal of
Inherited Metabolic Disease (JIMD), 31(SUPPL.
2), S419-S423. <a
href="http://dx.doi.org/10.1007/s10545-008-098
1-z">[More Information]</a>
Kondo, M., Gray, L., Pelka, G., Christodoulou,
J., Tam, P., Hannan, A. (2008). Environmental
enrichment ameliorates a motor coordination
deficit in a mouse model of Rett syndrome Mecp2 gene dosage effects and BDNF
expression. European Journal of Neuroscience,
27(12), 3342-3350. <a
href="http://dx.doi.org/10.1111/j.1460-9568.200
8.06305.x">[More Information]</a>
Bijarnia, S., Wiley, V., Carpenter, K.,
Christodoulou, J., Ellaway, C., Wilcken, B.
(2008). Glutaric aciduria type I: outcome
following detection by newborn screening.
Journal of Inherited Metabolic Disease (JIMD),
31(4), 503-507. <a
href="http://dx.doi.org/10.1007/s10545-008-091
2-z">[More Information]</a>
Singh, J., Saxena, A., Christodoulou, J., Raine,
D. (2008). MECP2 genomic structure and
function: insights from ENCODE. Nucleic Acids
Research, 36(19), 6035-6047. <a
href="http://dx.doi.org/10.1093/nar/gkn591">[M
ore Information]</a>
Sugiana, C., Pagliarini, D., McKenzie, M.,
Kirby, D., Salemi, R., Abu-Amero, K., Dahl, H.,
Hutchison, W., Vascotto, K., Smith, S.,
Christodoulou, J., et al (2008). Mutation of
C20orf7 disrupts complex I assembly and causes
lethal neonatal mitochondrial disease. American
Journal of Human Genetics, 83(4), 468-478. <a
href="http://dx.doi.org/10.1016/j.ajhg.2008.09.0
09">[More Information]</a>
Alexander, I., Cunningham, S., Logan, G.,
Christodoulou, J. (2008). Potential of AAV
vectors in the treatment of metabolic disease.
Gene Therapy, 15(11), 831-839. <a
href="http://dx.doi.org/10.1038/gt.2008.64">[M
ore Information]</a>
2007
de Brouwer, A., Williams, K., Duley, J., van
Kuilenburg, A., Nabuurs, S., Egmont-Peterson,
M., Lugtenberg, D., Zoetekouw, L., Banning,
M., Roeffen, M., Ouvrier, R., Christodoulou, J.,
et al (2007). Arts Syndrome Is Caused by
Loss-of-Function Mutations in PRPS1. American
Journal of Human Genetics, 81(3), 507-518. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17701896">[More Information]</a>
Singh-Grewal, D., Chaitow, J., Aksentijevich, I.,
Christodoulou, J. (2007). Coexistent MEFV and
CIAS1 mutations manifesting as familial
Mediterranean fever plus deafness. Annals of the
Rheumatic Diseases, 66(11), 1541-1541. <a
href="http://dx.doi.org/10.1136/ard.2007.075655
">[More Information]</a>
Archer, H., Evans, J., Leonard, H., Colvin, L.,
Ravine, D., Christodoulou, J., Williamson, S.,
Charman, T., Bailey, M., Sampson, J., et al
(2007). Correlation between clinical severity in
patients with Rett syndrome with a p.R168X or
p.T158M MECP2 mutation, and the direction
and degree of skewing of X-chromosome
inactivation. Journal of Medical Genetics, 44(2),
148-152. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16905679">[More Information]</a>
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
Publications for John Christodoulou
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17712354">[More Information]</a>
Chan, P., Duraisamy, S., Miller, P., Newell, J.,
McBride, C., Bond, J., Raevaara, T., Ollila, S.,
Nystrom, M., Grimm, A., Christodoulou, J., et al
(2007). Interpreting missense variants:
Comparing computational methods in human
disease genes CDKN2A, MLH1, MSH2,
MECP2, and tyrosinase (TYR). Human
Mutation, 28(7), 683-693. <a
href="http://dx.doi.org/10.1002/humu.20492">[
More Information]</a>
Chiong, M., Carpenter, K., Christodoulou, J.
(2007). Low citrulline may not be diagnostic of
ornithine transcarbamylase deficiency: a case
report. Journal of Inherited Metabolic Disease
(JIMD), 30(3), 405-405. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17407001">[More Information]</a>
Jian, L., Nagarajan, L., de Klerk, N., Ravine, D.,
Christodoulou, J., Leonard, H. (2007). Seizures
in Rett syndrome: An overview from a one-year
calendar study. European Journal of Paediatric
Neurology, 11(5), 310-317. <a
href="http://dx.doi.org/10.1016/j.ejpn.2007.02.0
08">[More Information]</a>
Schindeler, S., Ghosh-Jerath, S., Thompson, S.,
Rocca, A., Joy, P., Kemp, A., Rae, C., Green, K.,
Wilcken, B., Christodoulou, J. (2007). The
effects of large neutral amino acid supplements
in PKU: An MRS and neuropsychological study.
Molecular Genetics and Metabolism, 91, 48-54.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17368065">[More Information]</a>
Chiong, M., Sim, K., Carpenter, K., Rhead, W.,
Ho, G., Olsen, R., Christodoulou, J. (2007).
Transient multiple acyl-CoA dehydrogenation
deficiency in a newborn female caused by
maternal riboflavin deficiency. Molecular
Genetics and Metabolism, 92(39479), 109-114.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17689999">[More Information]</a>
2006
Kure, S., Kato, K., Dinopoulos, A., Gail, C.,
deGrauw, T., Christodoulou, J., Bzduch, V.,
Kalmanchey, R., Fekete, G., Trojovsky, A., et al
(2006). Comprehensive mutation analysis of
GLDC, AMT, and GCSH in nonketotic
hyperglycinemia. Human Mutation, 27(4),
343-352. <a
href="http://dx.doi.org/10.1002/humu.20293">[
More Information]</a>
Christodoulou, J., Craig, H., Walker, D.,
Weaving, L., Pearson, C., McInnes, R. (2006).
Deletion hotspot in the argininosuccinate lyase
gene: Association with topoisomerase II and
DNA polymerase α sites. Human Mutation,
27(11), 1065-1071. <a
href="http://dx.doi.org/10.1002/humu.20352">[
More Information]</a>
Kankirawatana, P., Leonard, H., Ellaway, C.,
Scurlock, J., Mansour, A., Makris, C., Dure, L.,
Friez, M., Lane, J., Kiraly-Borri, C., Jackson, J.,
Christodoulou, J., et al (2006). Early progressive
encephalopathy in boys and MECP2 mutations.
Neurology, 67(1), 164-166.
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>
Saxena, A., de Lagarde, D., Leonard, H.,
Williamson, S., Vasudevan, V., Christodoulou,
J., Thompson, E., Macleod, P., Ravine, D.
(2006). Lost in translation: translational
interference from a recurrent mutation in exon 1
of MECP2. Journal of Medical Genetics, 43(6),
470-477. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16155192">[More Information]</a>
Pelka, G., Watson, C., Radziewic, T., Hayward,
M., Lahooti, H., Christodoulou, J., Tam, P.
(2006). Mecp2 deficiency is associated with
learning and cognitive deficits and altered gene
activity in the hippocampal region of mice.
Brain, 129(Pt 4), 887-898. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16467389">[More Information]</a>
Archer, H., Evans, J., Millar, D., Thompson, P.,
Kerr, A., Leonard, H., Christodoulou, J., Ravine,
D., Lazarou, L., Grove, L., et al (2006). NTNG1
mutations are a rare cause of Rett syndrome.
American Journal of Medical Genetics. Part A,
140A (7), 691-694. <a
href="http://dx.doi.org/10.1002/ajmg.a.31133">[
More Information]</a>
Tredano, M., Cooper, D., Stuhrmann, M.,
Christodoulou, J., Chuzhanova, N.,
Roudot-Thoraval, F., Boelle, P., Elion, J.,
Jeanpierre, M., Feingold, J., et al (2006). Origin
of the prevalent SFTPB indel g.1549C > GAA
(121ins2) mutation causing surfactant protein B
(SP-B) deficiency. American Journal of Medical
Publications for John Christodoulou
Genetics. Part A, 140A (1), 62-69. <a
href="http://dx.doi.org/10.1002/ajmg.a.31050">[
More Information]</a>
Ager, S., Fyfe, S., Christodoulou, J., Jacoby, P.,
Schmitt, L., Leonard, H. (2006). Predictors of
scoliosis in Rett syndrome. Journal of Child
Neurology, 21(9), 809-813.
Jian, L., Nagarajan, L., de Klerk, N., Ravine, D.,
Bower, C., Anderson, A., Williamson, S.,
Christodoulou, J., Leonard, H. (2006). Predictors
of seizure onset in Rett syndrome. The Journal of
Pediatrics, 149(4), 542-547. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17011329">[More Information]</a>
Laurvick, C., de Klerk, N., Bower, C.,
Christodoulou, J., Ravine, D., Ellaway, C.,
Williamson, S., Leonard, H. (2006). Rett
syndrome in Australia: A review of the
epidemiology. The Journal of Pediatrics, 148(3),
347-352.
Williamson, S., Christodoulou, J. (2006). Rett
syndrome: new clinical and molecular insights.
European Journal of Human Genetics, 14(8),
896-903. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16865103">[More Information]</a>
2005
Pelka, G., Watson, C., Christodoulou, J., Tam, P.
(2005). Distinct expression profiles of Mecp2
transcripts with different lengths of 3'UTR in the
brain and visceral organs during mouse
development. Genomics, 85(4), 441-452. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15780747">[More Information]</a>
Evans, J., Archer, H., Colley, J., Ravn, K.,
Nielsen, J., Kerr, A., Williams, E.,
Christodoulou, J., Gecz, J., Jardine, P., et al
(2005). Early onset seizures and Rett-like
features associated with mutations in CDKL5.
European Journal of Human Genetics, 13(10),
1113-20. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16015284">[More Information]</a>
Leonard, H., Moore, H., Carey, M., Fyfe, S.,
Hall, S., Robertson, L., Wu, X., Bao, X., Pan, H.,
Christodoulou, J., Williamson, S., et al (2005).
Genotype and early development in Rett
syndrome: the value of international data. Brain
and Development, 27(Suppl 1), S59-S68. <a
href="http://dx.doi.org/10.1016/j.braindev.2005.
03.023">[More Information]</a>
Leonard, H., de Klerk, N., Robertson, I., Fyfe, S.,
Christodoulou, J., Weaving, L., Davis, M.,
Mulroy, S., Colvin, L. (2005). Health service use
in Rett syndrome. Journal of Child Neurology,
20(1), 42-50. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15791922">[More Information]</a>
Biggin, A., Henke, R., Bennetts, B., Thorburn,
D., Christodoulou, J. (2005). Mutation screening
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>
Mancuso, M., Ferraris, S., Pancrudo, J.,
Feigenbaum, A., Raiman, J., Christodoulou, J.,
Thorburn, D., DiMauro, S. (2005). New DGK
gene mutations in the hepatocerebral form of
mitochondrial DNA depletion syndrome. JAMA
Neurology, 62(5), 745-747. <a
href="http://dx.doi.org/10.1001/archneur.62.5.74
5">[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>
Jian, L., Archer, H., Ravine, D., Kerr, A., de
Klerk, N., Christodoulou, J., Bailey, M.,
Laurvick, C., Leonard, H. (2005). p.R270X
MECP2 mutation and mortality in Rett
syndrome. European Journal of Human
Genetics, 13(11), 1235-1238. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16077729">[More Information]</a>
Barclay, A., Sholler, G., Christodoulou, J., Shun,
A., Arbuckle, S., Dorney, S., Stormon, M.
(2005). Pulmonary hypertension - A new
manifestation of mitochondrial disease. Journal
of Inherited Metabolic Disease (JIMD), 28(6),
1081-1089. <a
href="http://dx.doi.org/10.1007/s10545-005-448
4-x">[More Information]</a>
Watson, C., Pelka, G., Radziewic, T.,
Shahbazian, M., Christodoulou, J., Williamson,
S., Tam, P. (2005). Reduced proportion of
Purkinje cells expressing
paternally derived mutant Mecp2 308 allele in
female mouse cerebellum is not due to a skewed
primary pattern of X-chromosome inactivation.
Human Molecular Genetics, 14(13), 1851-1861.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
Publications for John Christodoulou
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15888476">[More Information]</a>
Christodoulou, J., Williamson, S., Ellaway, C.
(2005). Rett Syndrome. In Jurgen Fuchs &
Maurizio Podda (Eds.), Encyclopedia of Medical
Genomics and Proteomics, (pp. 1-7). Europe:
Marcel Dekker.
Weaving, L., Ellaway, C., Gécz, J.,
Christodoulou, J. (2005). Rett syndrome: clinical
review and genetic update. Journal of Medical
Genetics, 42(1), 1-7. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15635068">[More Information]</a>
Mitchell, J., Wilcken, B., Alexander, I., Ellaway,
C., O'Grady, H., Wiley, V., Earl, J.,
Christodoulou, J. (2005).
Tetrahydrobiopterin-responsive phenylketonuria:
The New South Wales experience. Molecular
Genetics and Metabolism, 86(Suppl 1), S81-S85.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16091307">[More Information]</a>
Gibson, J., Williamson, S., Arbuckle, S.,
Christodoulou, J. (2005). X chromosome
inactivation patterns in brain in Rett syndrome:
implications for the disease phenotype. Brain
and Development, 27(4), 266-270. <a
href="http://dx.doi.org/10.1016/j.braindev.2004.
07.002">[More Information]</a>
2004
Shaw, C., Stankiewicz, P., Christodoulou, J.,
Smith, E., Jones, K., Lupski, J. (2004). A Girl
With Duplication 17p10-p12 Associated With A
Dicentric Chromosome. American Journal of
Medical Genetics. Part A, 124A (2), 173-178.
Christodoulou, J., Wilcken, B. (2004).
Biochemical Genetic Emergencies. In Henry
Kilham & David Isaacs (Eds.), The Childrens
Hospital at Westmead Handbook: Clinical
practice guidelines for paediatrics, (pp.
104-111). Sydney: McGraw-Hill Education.
Rae, C., Joy, P., Harasty, J., Kemp, A., Kuan, S.,
Christodoulou, J., Cowell, C., Coltheart, M.
(2004). Enlarged Temporal Lobes In Turner
Syndrome: An X-Chromosome Effect? Cerebral
Cortex, 14(2), 156-164.
Weaving, L., Christodoulou, J., Williamson, S.,
Friend, K., McKenzie, O., Archer, H., Evans, J.,
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.
Christodoulou, J., Wilcken, B. (2004).
Perimortem Laboratory Investigation Of Genetic
Metabolic Disorders. Seminars In Neonatology,
9(4), 275-280.
Colvin, L., Leonard, H., de Klerk, N., Davis, M.,
Weaving, L., Williamson, S., Christodoulou, J.
(2004). Refining the phenotype of common
mutations in Rett syndrome. Journal of Medical
Genetics, 41(1), 25-30.
Leonard, H., Weaving, L., Eastaugh, P., Smith,
L., Engerstrom, I., Delatycki, M., Christodoulou,
J. (2004). Trisomy 21 And Rett Syndrome: A
Double Burden. Journal of Paediatrics and
Child Health, 40(7), 406-409.
2003
Minchenko, D., Williams, A., Christodoulou, J.
(2003). Adaptation of a mitochondrial complex
III assay for automation: examination of
reproducibility and precision. Clinical
Chemistry, 11, 330-332.
Colvin, L., Fyfe, S., Leonard, S., Schiavello, T.,
Ellaway, C., de Klerk, N., Christodoulou, J.,
Msall, M., Leonard, H. (2003). Describing the
phenotype in Rett syndrome using a population
database. Archives of Disease in Childhood,
88(1), 38-43.
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
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2000
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