Concepedia
Statistics
Publications
101
Citations
7.4K
H-Index
45
Active since
2001
Affiliations
UNSW Sydney(Current)
Sydney Children's Hospital
The University of Sydney
Neuroscience Research Australia
Garvan Institute of Medical Research
Tony Roscioli is an author at UNSW Sydney specializing in genetics, life sciences, and molecular genetics.
Publications per year
2001–2024
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 603 citations
Life Sciences, Genetics, Molecular Genetics +8
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 300 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text
Life Sciences, Neurology, Neuroscience +17
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text
Medicine, Child Health, Pediatrics +13
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