|Rett syndrome: revised diagnostic criteria and nomenclature|
WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, N Bahi‐Buisson, ...
Annals of neurology 68 (6), 944-950, 2010
|Leigh syndrome: clinical features and biochemical and DNA abnormalities|
S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, ...
Annals of neurology 39 (3), 343-351, 1996
|Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.|
Y Tatuch, J Christodoulou, A Feigenbaum, JT Clarke, J Wherret, C Smith, ...
American journal of human genetics 50 (4), 852, 1992
|Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation|
LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ...
The American Journal of Human Genetics 75 (6), 1079-1093, 2004
|Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing|
SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ...
Science translational medicine 4 (118), 118ra10-118ra10, 2012
|Rett syndrome in Australia: a review of the epidemiology|
CL Laurvick, N De Klerk, C Bower, J Christodoulou, D Ravine, C Ellaway, ...
The Journal of pediatrics 148 (3), 347-352, 2006
|Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome|
LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ...
The American Journal of Human Genetics 87 (1), 52-59, 2010
|Rett syndrome: clinical review and genetic update|
LS Weaving, CJ Ellaway, J Gecz, J Christodoulou
Journal of Medical Genetics 42 (1), 1-7, 2005
|Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice|
GJ Pelka, CM Watson, T Radziewic, M Hayward, H Lahooti, ...
Brain 129 (4), 887-898, 2006
|Early onset seizures and Rett-like features associated with mutations in CDKL5|
JC Evans, HL Archer, JP Colley, K Ravn, JB Nielsen, A Kerr, E Williams, ...
European Journal of Human Genetics 13 (10), 1113-1120, 2005
|Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease|
C Sugiana, DJ Pagliarini, M McKenzie, DM Kirby, R Salemi, ...
The American Journal of Human Genetics 83 (4), 468-478, 2008
|RettBASE: the IRSA MECP2 variation database—a new mutation database in evolution|
J Christodoulou, A Grimm, T Maher, B Bennetts
Human mutation 21 (5), 466-472, 2003
|Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients|
J Christodoulou, DM Danks, B Sarkar, KE Baerlocher, R Casey, N Horn, ...
American Journal of Medical Genetics Part A 76 (2), 154-164, 1998
|Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome–Mecp2 gene dosage effects and BDNF expression|
M Kondo, LJ Gray, GJ Pelka, J Christodoulou, PPL Tam, AJ Hannan
European Journal of Neuroscience 27 (12), 3342-3350, 2008
|Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)|
PA Chan, S Duraisamy, PJ Miller, JA Newell, C McBride, JP Bond, ...
Human mutation 28 (7), 683-693, 2007
|Guidelines for reporting clinical features in cases with MECP2 mutations|
AM Kerr, Y Nomura, D Armstrong, M Anvret, PV Belichenko, S Budden, ...
Brain and Development 23 (4), 208-211, 2001
|Rett syndrome: new clinical and molecular insights|
SL Williamson, J Christodoulou
European Journal of Human Genetics 14 (8), 896-903, 2006
|Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype|
LS Weaving, SL Williamson, B Bennetts, M Davis, CJ Ellaway, H Leonard, ...
American Journal of Medical Genetics Part A 118 (2), 103-114, 2003
|Expanded newborn screening: outcome in screened and unscreened patients at age 6 years|
B Wilcken, M Haas, P Joy, V Wiley, F Bowling, K Carpenter, ...
Pediatrics 124 (2), e241-e248, 2009
|The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy|
S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ...
European Journal of Human Genetics 21 (3), 266-273, 2013