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Meredith Wilson
Meredith Wilson
Children's Hospital at Westmead
Geverifieerd e-mailadres voor health.nsw.gov.au
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Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
MF McDermott, I Aksentijevich, J Galon, EM McDermott, BW Ogunkolade, ...
Cell 97 (1), 133-144, 1999
16301999
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ...
The American Journal of Human Genetics 80 (3), 485-494, 2007
5992007
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380-384, 2014
3562014
The X-linked gene G4. 5 is responsible for different infantile dilated cardiomyopathies
P D'Adamo, L Fassone, A Gedeon, EAM Janssen, S Bione, PA Bolhuis, ...
The American Journal of Human Genetics 61 (4), 862-867, 1997
3101997
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
3032013
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
DR Mowat, GD Croaker, DT Cass, BA Kerr, J Chaitow, LC Ades, NL Chia, ...
Journal of medical genetics 35 (8), 617-623, 1998
2881998
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
DR Mowat, GD Croaker, DT Cass, BA Kerr, J Chaitow, LC Ades, NL Chia, ...
Journal of medical genetics 35 (8), 617-623, 1998
2851998
What constitutes cerebral palsy in the twenty‐first century?
H Smithers‐Sheedy, N Badawi, E Blair, C Cans, K Himmelmann, ...
Developmental Medicine & Child Neurology 56 (4), 323-328, 2014
2712014
Mowat-Wilson syndrome
DR Mowat, MJ Wilson, M Goossens
Journal of medical genetics 40 (5), 305-310, 2003
263*2003
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
V Cacheux, F Dastot-Le Moal, H Kääriäinen, N Bondurand, R Rintala, ...
Human molecular genetics 10 (14), 1503-1510, 2001
2592001
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ...
Journal of medical genetics 46 (9), 598-606, 2009
2362009
Bigger is better: maternal and neonatal predictors of hematopoietic potential of umbilical cord blood units
KK Ballen, M Wilson, J Wuu, AM Ceredona, C Hsieh, FM Stewart, ...
Bone marrow transplantation 27 (1), 7-14, 2001
2322001
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ...
Journal of Medical Genetics 41 (5), e68-e68, 2004
1992004
CHARGE syndrome: a review
P Hsu, A Ma, M Wilson, G Williams, J Curotta, CF Munns, S Mehr
Journal of paediatrics and child health 50 (7), 504-511, 2014
1972014
Genome-wide profiling of p63 DNA–binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus
EN Kouwenhoven, SJ van Heeringen, JJ Tena, M Oti, BE Dutilh, ...
PLoS genetics 6 (8), e1001065, 2010
1832010
ZFHX1B mutations in patients with Mowat‐Wilson syndrome
F Dastot‐Le Moal, M Wilson, D Mowat, N Collot, F Niel, M Goossens
Human mutation 28 (4), 313-321, 2007
1642007
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ...
Jama 323 (24), 2503-2511, 2020
1502020
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28
LC Ades, AK Gedeon, MJ Wilson, M Latham, MW Partington, JC Mulley, ...
American journal of medical genetics 45 (3), 327-334, 1993
1461993
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, ...
European Journal of Human Genetics 18 (5), 544-552, 2010
1342010
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, ...
European Journal of Human Genetics 18 (5), 544-552, 2010
1342010
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Artikelen 1–20