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Tony Roscioli
Tony Roscioli
senior lecturer in child health, UNSW
Verified email at sesiahs.health.nsw.gov.au
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Cited by
Cited by
Year
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
F Rutsch, N Ruf, S Vaingankar, MR Toliat, A Suk, W Höhne, G Schauer, ...
Nature genetics 34 (4), 379-381, 2003
6492003
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ...
Nature genetics 42 (10), 827-829, 2010
3752010
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
3062012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
2262012
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
2232017
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
CS Ma, N Wong, G Rao, DT Avery, J Torpy, T Hambridge, J Bustamante, ...
Journal of Allergy and Clinical Immunology 136 (4), 993-1006. e1, 2015
1962015
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
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ...
Genetics in Medicine 20 (12), 1564-1574, 2018
1792018
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
K Buysse, M Riemersma, G Powell, J van Reeuwijk, D Chitayat, T Roscioli, ...
Human Molecular Genetics 22 (9), 1746-1754, 2013
1702013
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
PM Krawitz, Y Murakami, J Hecht, U Krüger, SE Holder, GR Mortier, ...
The American Journal of Human Genetics 91 (1), 146-151, 2012
1622012
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
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs, M Erazo, X Ye, ...
Nature genetics 44 (12), 1360-1364, 2012
1362012
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ...
Human mutation 34 (5), 686-696, 2013
1292013
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures
VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ...
Cell 172 (5), 924-936. e11, 2018
1262018
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ...
Clinical genetics 84 (6), 539-545, 2013
1162013
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
ST Cliffe, JM Kramer, K Hussain, JH Robben, EK de Jong, AP de Brouwer, ...
Human molecular genetics 18 (12), 2257-2265, 2009
1162009
Intraocular pressure in patients with diabetic macular edema treated with dexamethasone intravitreal implant in the 3-year MEAD study
RK Maturi, A Pollack, HS Uy, M Varano, AMV Gomes, XY Li, H Cui, J Lou, ...
Retina 36 (6), 1143-1152, 2016
1152016
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
LG Riley, MJ Cowley, V Gayevskiy, T Roscioli, DR Thorburn, K Prelog, ...
Journal of inherited metabolic disease 40, 261-269, 2017
1132017
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen, MK Singh, JA Epstein, ...
Nature communications 6 (1), 7199, 2015
1082015
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
T Roscioli, ST Cliffe, DB Bloch, CG Bell, G Mullan, PJ Taylor, M Sarris, ...
Nature genetics 38 (6), 620-622, 2006
1072006
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