Publications for Meredith Wilson
Publications for Meredith Wilson
2016
Goldblatt, J., Fletcher, J., McGill, J., Szer, J.,
Wilson, M. (2016). Interruption of enzyme
replacement therapy in Gaucher disease. SAMJ
South African Medical Journal, 106(6), S79-S81.
<a
href="http://dx.doi.org/10.7196/SAMJ.2016.v10
6i6.11002">[More Information]</a>
Evans, E., Mowat, D., Wilson, M., Einfeld, S.
(2016). Sleep Disturbance in Mowat–Wilson
Syndrome. American Journal of Medical
Genetics. Part A, 170(3), 654-660. <a
href="http://dx.doi.org/10.1002/ajmg.a.37502">[
More Information]</a>
Hsu, P., Ma, A., Barnes, E., Wilson, M.,
Hoefsloot, L., Rinne, T., Munns, C., Williams,
G., Wong, M., Mehr, S. (2016). The Immune
Phenotype of Patients with CHARGE Syndrome.
The Journal of Allergy and Clinical
Immunology: In Practice, 4(1), 96-103e.2. <a
href="http://dx.doi.org/10.1016/j.jaip.2015.09.00
4">[More Information]</a>
Crawford, H., Barton, B., Wilson, M., Berman,
Y., McKelvey-Martin, V., Morrison, P., North,
K. (2016). Uptake of health monitoring and
disease self-management in Australian adults
with neurofibromatosis type 1: strategies to
improve care. Clinical Genetics, 89(3), 385-391.
<a
href="http://dx.doi.org/10.1111/cge.12627">[Mo
re Information]</a>
2015
Mohd Khialdin, S., Grigg, J., Rowe, N., Crofts,
S., Wilson, M., Troedson, C. (2015). A negative
waveform in the scotopic response in a patient
with phosphoglycerate kinase deficiency: a
visual electrophysiology report. Documenta
Ophthalmologica, 131, 215-220. <a
href="http://dx.doi.org/10.1007/s10633-015-951
1-0">[More Information]</a>
Jedraszak, G., Demeer, B., Mathieu-Dramard,
M., Andrieux, J., Receveur, A., Weber, A.,
Maye, U., Foulds, N., Temple, I., Crolla, J.,
Ewans, L., Wilson, M., et al (2015). Clinical and
Molecular Characterization of the 20q11.2
Microdeletion Syndrome: Six New Patients.
American Journal of Medical Genetics. Part A,
167A (3), 504-511. <a
href="http://dx.doi.org/10.1002/ajmg.a.36882">[
More Information]</a>
Bachmann-Gagescu, R., Phelps, I., Dempsey, J.,
Sharma, V., Ishak, G., Boyle, E., Wilson, M.,
Lourenco, C., Arslan, M., Shendure, J., et al
(2015). KIAA0586 is Mutated in Joubert
Syndrome. Human Mutation, 36(9), 831-835. <a
href="http://dx.doi.org/10.1002/humu.22821">[
More Information]</a>
Crawford, H., Barton, B., Wilson, M., Berman,
Y., McKelvey-Martin, V., Morrison, P., North,
K. (2015). The Impact of Neurofibromatosis
Type 1 on the Health and Wellbeing of
Australian Adults. Journal of Genetic
Counseling, 24(6), 931-944. <a
href="http://dx.doi.org/10.1007/s10897-015-982
9-5">[More Information]</a>
Prokudin, I., Li, D., He, S., Guo, Y., Goodwin,
L., Wilson, M., Rose, L., Tian, L., Chen, Y.,
Liang, J., Jamieson, R., et al (2015). Value of
whole exome sequencing for syndromic retinal
dystrophy diagnosis in young patients. Clinical
and Experimental Ophthalmology, 43(2),
132-138. <a
href="http://dx.doi.org/10.1111/ceo.12391">[Mo
re Information]</a>
2014
Helsmoortel, C., Vulto-van Silfhout, A., Coe, B.,
Vandeweyer, G., Rooms, L., van den Ende, J.,
Schuurs-Hoeijmakers, J., Marcelis, C.,
Willemsen, M., Vessers, L., Wilson, M., et al
(2014). A SWI/SNF-related autism syndrome
caused by de novo mutations in ADNP. Nature
Genetics, 46(4), 380-384. <a
href="http://dx.doi.org/10.1038/ng.2899">[More
Information]</a>
Hsu, P., Ma, A., Wilson, M., Williams, G.,
Curotta, J., Munns, C., Mehr, S. (2014).
CHARGE syndrome: A review. Journal of
Paediatrics and Child Health, 50(7), 504-511. <a
href="http://dx.doi.org/10.1111/jpc.12497">[Mo
re Information]</a>
Grozeva, D., Carss, K., Spasic-Boskovic, O.,
Parker, M., Archer, H., Firth, H., Park, S.,
Canham, N., Holder, S., Wilson, M., et al (2014).
De Novo Loss-of-Function Mutations in SETD5,
Encoding a Methyltransferase in a 3p25
Microdeletion Syndrome Critical Region, Cause
Intellectual Disability. American Journal of
Human Genetics, 94(4), 618-624. <a
href="http://dx.doi.org/10.1016/j.ajhg.2014.03.0
06">[More Information]</a>
Hanson, H., Wilson, M., Short, J., Chioza, B.,
Crosby, A., Nash, R., Marks, K., Mansour, S.
(2014). Germline CBL mutation associated with
a noonan-like syndrome with primary
lymphedema and teratoma associated with
acquired uniparental isodisomy of chromosome
11q23. American Journal of Medical Genetics.
Part A, 164A (4), 1003-1009. <a
href="http://dx.doi.org/10.1002/ajmg.a.36375">[
More Information]</a>
Smithers-Sheedy, H., Badawi, N., Blair, E.,
Cans, C., Himmelmann, K., Krageloh-mann, I.,
Publications for Meredith Wilson
McIntyre, S., Slee, J., Uldall, P., Watson, L.,
Wilson, M. (2014). What constitutes cerebral
palsy in the twenty-first century? Developmental
Medicine and Child Neurology, 56(4), 323-328.
<a
href="http://dx.doi.org/10.1111/dmcn.12262">[
More Information]</a>
2013
Ng, W., Pasutto, F., Bardakjian, T., Wilson, M.,
Watson, G., Schneider, A., Mackey, D., Grigg,
J., Zenker, M., Jamieson, R. (2013). A puzzle
over several decades: eye anomalies with FRAS1
and STRA6 mutations in the same family.
Clinical Genetics, 83(2), 162-168. <a
href="http://dx.doi.org/10.1111/j.1399-0004.201
2.01851.x">[More Information]</a>
Roscioli, T., Elakis, G., Cox, T., Moon, D.,
Venselaar, H., Turner, A., Le, T., Hackett, E.,
Haan, E., Colley, A., Collins, F., Wilson, M., et
al (2013). Genotype and clinical care correlations
in craniosynostosis: findings from a cohort of
630 Australian and New Zealand patients.
American Journal of Medical Genetics. Part C,
Seminars in Medical Genetics, 163(4), 259-270.
<a
href="http://dx.doi.org/10.1002/ajmg.c.31378">[
More Information]</a>
Elmaleh-Bergès, M., Baumann, C., Noël-Pétroff,
N., Sekkal, A., Couloigner, V., Devriendt, K.,
Wilson, M., Marlin, S., Sebag, G., Pingault, V.
(2013). Spectrum of Temporal Bone
Abnormalities in Patients with Waardenburg
Syndrome and SOX10 Mutations. American
Journal Of Neuroradiology, 34(6), 1257-1263.
<a
href="http://dx.doi.org/10.3174/ajnr.A3367">[M
ore Information]</a>
Troedson, C., Wong, M., Dalby-Payne, J.,
Wilson, M., Dexter, M., Rice, G., Crow, Y.,
Dale, R. (2013). Systemic lupus erythematosus
due to C1q deficiency with progressive
encephalopathy, intracranial calcification and
acquired moyamoya cerebral vasculopathy.
Lupus, 22(6), 639-643. <a
href="http://dx.doi.org/10.1177/0961203313486
950">[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>
2012
Field, M., Scheffer, I., Gill, D., Wilson, M.,
Christie, L., Shaw, M., Gardner, A., Glubb, G.,
Hobson, L., Corbett, M., et al (2012). Expanding
the molecular basis and phenotypic spectrum of
X-linked Joubert syndrome associated with
OFD1 mutations. European Journal of Human
Genetics, 20(7), 806-809. <a
href="http://dx.doi.org/10.1038/ejhg.2012.9">[M
ore Information]</a>
Burkitt Wright, E., Bradley, L., Shorto, J.,
McConnell, V., Gannon, C., Firth, H., Park, S.,
D'Amore, A., Munyard, P., Turnpenny, P.,
Wilson, M., et al (2012). Neonatal lethal Costello
syndrome and unusual dinucleotide
deletion/insertion mutations in HRAS predicting
p.Gly12Val. American Journal of Medical
Genetics. Part A, 158A (5), 1102-1110. <a
href="http://dx.doi.org/10.1002/ajmg.a.35296">[
More Information]</a>
Cho, Y., Tchan, M., Roy, B., Halliday, R.,
Wilson, M., Dutt, S., Siew, S., Munns, C.,
Howard, N. (2012). Recombinant Parathyroid
Hormone Therapy for Severe Neonatal
Hypoparathyroidism. The Journal of Pediatrics,
160(2), 345-348. <a
href="http://dx.doi.org/10.1016/j.jpeds.2011.09.0
22">[More Information]</a>
Evans, E., Einfeld, S., Mowat, D., Taffe, J.,
Tonge, B., Wilson, M. (2012). The Behavioral
Phenotype of Mowat-Wilson Syndrome.
American Journal of Medical Genetics. Part A,
158a (2), 358-366. <a
href="http://dx.doi.org/10.1002/ajmg.a.34405">[
More Information]</a>
2011
Chopra, M., Lawson, J., Wilson, M., Kennedy,
S., Taylor, P., Buckley, M., Wargon, O.,
Parasivam, G., Camphausen, C., Yates, D., et al
(2011). An Australian tuberous sclerosis cohort:
Are surveillance guidelines being met? Journal
of Paediatrics and Child Health, 47(10),
711-716. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
1.02038.x">[More Information]</a>
Compton, A., Troedson, C., Wilson, M.,
Procopis, P., Li, F., Brundage, E., Yamazaki, T.,
Thorburn, D., Wong, L. (2011). Application of
oligonucleotide array CGH in the detection of a
large intragenic deletion in POLG associated
with Alpers Syndrome. Mitochondrion, 11(1),
104-107. <a
href="http://dx.doi.org/10.1016/j.mito.2010.07.0
12">[More Information]</a>
Goldblatt, J., Fletcher, J., McGill, J., Szer, J.,
Wilson, M. (2011). Enzyme replacement therapy
"drug holiday": Results from an unexpected
shortage of an orphan drug supply in Australia.
Blood Cells, Molecules and Diseases, 46(1),
107-110. <a
Publications for Meredith Wilson
href="http://dx.doi.org/10.1016/j.bcmd.2010.05.
002">[More Information]</a>
Burkitt Wright, E., Spencer, H., Daly, S.,
Manson, F., Zeef, L., Urquhart, J., Zoppi, N.,
Bonshek, R., Tosounidis, I., Mohan, M., Wilson,
M., et al (2011). Mutations in PRDM5 in Brittle
Cornea Syndrome Identify a Pathway Regulating
Extracellular Matrix Development and
Maintenance. American Journal of Human
Genetics, 88(6), 767-777. <a
href="http://dx.doi.org/10.1016/j.ajhg.2011.05.0
07">[More Information]</a>
2010
Hackett, A., Tarpey, P., Licata, A., Cox, J.,
Whibley, A., Boyle, J., Rogers, C., Grigg, J.,
Partington, M., Stevenson, R., Wilson, M., et al
(2010). CASK mutations are frequent in males
and cause X-linked nystagmus and variable
XLMR phenotypes. European Journal of Human
Genetics, 18(5), 544-552. <a
href="http://dx.doi.org/10.1038/ejhg.2009.220">
[More Information]</a>
Kouwenhoven, E., van Heeringen, S., Tena, J.,
Oti, M., Dutilh, B., Alonso, M., Calle-Mustienes,
E., Smeenk, L., Rinne, T., Parsaulian, L.,
Wilson, M., et al (2010). Genome-Wide Profiling
of p63 DNA-Binding Sites Identifies an Element
that Regulates Gene Expression during Limb
Development in the 7q21 SHFM1 Locus. PLoS
Genetics, 6(8), e1001065 -1-e1001065 -15. <a
href="http://dx.doi.org/10.1371/journal.pgen.100
1065">[More Information]</a>
Mowat, D., Wilson, M. (2010). Mowat-Wilson
Syndrome. In S.B Cassidy and J.E. Allanson
(Eds.), Management of Genetic Syndromes, (pp.
517-528). USA: Wiley-Blackwell Publishing.
van Bon, B., Koolen, D., Brueton, L., McMullan,
D., Lichtenbelt, K., Ades, L., Peters, G., Gibson,
K., Novara, F., Pramparo, T., Wilson, M., et al
(2010). The 2q23.1 microdeletion syndrome:
clinical and behavioural phenotype. European
Journal of Human Genetics, 18(2), 163-170. <a
href="http://dx.doi.org/10.1038/ejhg.2009.152">
[More Information]</a>
David-Vizcarra, G., Briody, J., Ault, J., Fietz,
M., Fletcher, J., Savarirayan, R., Wilson, M.,
McGill, J., Edwards, M., Munns, C., Sillence, D.,
et al (2010). The natural history and
osteodystrophy of mucolipidosis types II and III.
Journal of Paediatrics and Child Health, 46(6),
316-322. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
0.01715.x">[More Information]</a>
2009
James, P., Culling, B., Mullan, G., Jenkins, M.,
Elakis, G., Turner, A., Mowat, D., Wilson, M.,
Anderson, P., Savarirayan, R., et al (2009).
Breast Cancer Risk Is Not Increased in
Individuals with TWISTI Mutation Confirmed
Saethre-Chotzen Syndrome: An Australian
Multicenter Study. Genes Chromosomes and
Cancer, 48, 533-538. <a
href="http://dx.doi.org/10.1002/gcc.20661">[Mo
re Information]</a>
Valappil, S., Ready, D., Abou Neel, E., Pickup,
D., O"Dell, L., Chrzanowski, W., Pratten, J.,
Newport, R., Smith, M., Wilson, M., et al (2009).
Controlled delivery of antimicrobial gallium ions
from phosphate-based glasses. Acta
Biomaterialia, 5(4), 1198-1210. <a
href="http://dx.doi.org/10.1016/j.actbio.2008.09.
019">[More Information]</a>
Kleefstra, T., van Zelst-Stams, W., Nillesen, W.,
Cormier-Daire, V., Houge, D., Foulds, N., van
Dooren, M., Willemsen, M., Pfundt, R., Turner,
A., et al (2009). Further clinical and molecular
delineation of the 9q subtelomeric deletion
syndrome supports a major contribution of
EHMT1 haploinsufficiency to the core
phenotype. Journal of Medical Genetics, 46(9),
598-606. <a
href="http://dx.doi.org/10.1136/jmg.2008.06295
0">[More Information]</a>
Tan, T., Aftimos, S., Worgan, L., Susman, R.,
Wilson, M., Ghedia, S., Kirk, E., Love, D.,
Ronan, A., Darmanian, A., Widmer, R., Peters,
G., et al (2009). Phenotypic expansion and
further characterisation of the 17q21.31
microdeletion syndrome. Journal of Medical
Genetics, 46(7), 480-489. <a
href="http://dx.doi.org/10.1136/jmg.2008.06539
1">[More Information]</a>
2008
Wilson, M., Goossens, M., Dastot-Le Moal, F.,
Mowat, D. (2008). ZEB2 and Mowat-Wilson
syndrome. In C.J. Epstein, R.P. Erickson, A.
Wynshaw-Boris (Eds.), Inborn Errors of
Development (2nd ed), (pp. 425-432). United
States of America: Oxford University Press.
2007
Liang, H., Morel-Kopp, M., Curtin, J., Wilson,
M., Hewson, J., Chen, W., Ward, C. (2007).
Heterozygous loss of platelet glycoprotein (GP)
Ib-V-IX variably affects platelet function in
velocardiofacial syndrome (VCFS) patients.
Thrombosis and Haemostasis, 98(6), 1298-1308.
Liang, H., Morel-Kopp, M., Curtin, J., Wilson,
M., Hewson, J., Chen, W., Ward, C. (2007).
Heterozygous loss of platelet glycoprotein (GP)
Ib-V-IX variably affects platelet function in
velocardiofacial syndrome (VCFS) patients.
Thrombosis and Haemostasis, 98(6), 1298-1308.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
Publications for Meredith Wilson
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18064328">[More Information]</a>
Deardorff, M., Kaur, M., Yaeger, D., Rampuria,
A., Korolev, S., Pie, J., Gil-Rodriguez, C.,
Arnedo, M., Loeys, B., Kline, A., Wilson, M., et
al (2007). Mutations in Cohesin Complex
Members SMC3 and SMC1A Cause a Mild
Variant of Cornelia de Lange Syndrome with
Predominant Mental Retardation. American
Journal of Human Genetics, 80(3), 485-494. <a
href="http://dx.doi.org/10.1086/511888">[More
Information]</a>
Blue, G., Mah, J., Cole, A., Lal, V., Wilson, M.,
Chard, R., Sholler, G., Hawker, R., Sherwood,
M., Winlaw, D. (2007). The negative impact of
Alagille syndrome on survival of infants with
pulmonary atresia. The Journal of Thoracic and
Cardiovascular Surgery, 133, 1094-1096. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17382662">[More Information]</a>
Florence, D., Wilson, M., Mowat, D., Collot, N.,
Niel, F., Goossens, M. (2007). ZFHX1B
mutations in patients with Mowat-Wilson
syndrome. Human Mutation, 28(4), 313-321. <a
href="http://dx.doi.org/10.1002/humu.20452">[
More Information]</a>
2006
Trent, R., Webster, B., Bowden, D., Gilbert, A.,
Ho, J., Lindeman, R., Lammi, A., Rowell, J.,
Hinchcliffe, M., Colley, A., et al (2006).
Complex phenotypes in the
haemoglobinopathies: recommendations on
screening and DNA testing. Pathology, 38(6),
507-519.
Willcock, C., Grigg, J., Wilson, M., Tam, P.,
Billson, F., Jamieson, R. (2006). Congenital iris
ectropion as an indicator of variant aniridia.
British Journal of Ophthalmology, 90(5),
658-659.
2005
Vlangos, C., Wilson, M., Blancato, J., Smith, A.,
Elsea, S. (2005). Diagnostic FISH probes for
del(17)(p11.2p11.2) associated with
Smith-Magenis syndrome should contain the
RAI1 gene. American Journal of Medical
Genetics. Part A, 132(3), 278-82. <a
href="http://dx.doi.org/10.1002/ajmg.a.30461">[
More Information]</a>
Goldblatt, J., Szer, J., Fletcher, J., McGill, J.,
Rowell, J., Wilson, M. (2005). Enzyme
replacement therapy for Gaucher disease in
Australia. Internal Medicine Journal, 35(156),
161. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15737135">[More Information]</a>
Levison, J., Neas, K., Wilson, M., Cooper, P.,
Wojtulewicz, J. (2005). Neonatal nasal
obstruction and a single maxillary central incisor.
Journal of Paediatrics and Child Health, 41(7),
380-1. <a
href="http://dx.doi.org/10.1111/j.1440-1754.200
5.00639.x">[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>
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>
Gabbett, M., Jones, K., Cowell, C., Sillence, D.,
Wilson, M. (2006). Neonatal severe
hyperparathyroidism: An important clue to the
aetiology. Journal of Paediatrics and Child
Health, 42(12), 813-816. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17096719">[More Information]</a>
McGaughran, J., Sinnott, S., Dastot-Le Moal, F.,
Wilson, M., Mowat, D., Sutton, B., Goossens, M.
(2005). Recurrence of Mowat-Wilson syndrome
in siblings with the same proven mutation.
American Journal of Medical Genetics. Part A,
137(3), 302-4. <a
href="http://dx.doi.org/10.1002/ajmg.a.30896">[
More Information]</a>
Wilson, M., Flanagan, J., Rhodes, M., Beutler, E.
(2006). The identification of a recurrent
phosphoglycerate kinase
2003
mutation associated with chronic haemolytic
anaemia and neurological dysfunction in a family
from USA. British Journal of Haematology, 134,
233-237. <a
href="http://dx.doi.org/10.1111/j.1365-2141.200
6.06143.x">[More Information]</a>
Ades, L., White, S., Amor, D., Liebelt, J.,
Bankier, A., Baker, E., Wilson, M., Savarirayan,
R. (2003). Two further cases of Ohdo syndrome
delineate the phenotypic variability of the
condition. Clinical Dysmorphology, 12(2),
109-113.
2001
Publications for Meredith Wilson
Davies, E., Purcell, A., Wilson, M. (2001).
Speech, resonance and feeding characteristics of
children with 22q11.2 deletion. 2001 National
Speech Pathology Australia Conference. Ads &
Adea.
2000
McCusker, E., Richards, F., Sillence, D., Wilson,
M., Trent, R. (2000). Huntington's disease:
neurological assessment of potential gene
carriers presenting for predictive DNA testing.
Journal of Clinical Neuroscience.