Michelle de Silva

Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion

Lauren S Akesson, David Francis, Michelle de Silva, Theresa Cole, Peter Simm, Mark Oliver, Susan M White

Journal article  |  2020  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R Brett, Melissa Martyn, Fiona Lynch, Michelle G de Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah King-Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: To explore parental experiences of ultrarapid genomic testing for their critically unwell infants and children. METHODS: ..

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, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathwa..

A protocol for cryoembedding the adult guinea pig cochlea for fluorescence immunohistology

Bryony Coleman, Natalie A Rickard, Michelle G de Silva, Robert K Shepherd

Journal article  |  2009  |  JOURNAL OF NEUROSCIENCE METHODS

Green fluorescent protein (GFP) has been used extensively to label cells in vitro and to track them following their transplantatio..

Advances in molecular and cellular therapies for hearing loss

Michael S Hildebrand, Stephen S Newton, Samuel P Gubbels, Abraham M Sheffield, Amit Kochhar, Michelle G de Silva, Hans-Henrik M Dahl, Scott D Rose, Mark A Behlke, Richard JH Smith

Journal article  |  2008  |  MOLECULAR THERAPY

Development of effective therapeutics for hearing loss has proven to be a slow and difficult process, evidenced by the lack of res..

Concise review: The potential of stem cells for auditory neuron generation and replacement

Bryony Coleman, Michelle G De Silva, Robert K Shepherd

Journal article  |  2007  |  STEM CELLS

Sensory hair cells in the mammalian cochlea are sensitive to many insults including loud noise, ototoxic drugs, and ageing. Damage..

Molecular characterization of a novel x-linked syndrome involving developmental delay and deafness

Michael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, Elizabeth Rose, Carla Nishimura, Tanya Tolmachova, Joanne M Hulett, Susan M White, Jeremy Silver, Melanie Bahlo, Richard JH Smith, Hans-Henrik M Dahl

Journal article  |  2007  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecu..

Gene expression profiling analysis of the inner ear

Michael S Hildebrand, Michelle G de Silva, Tuomas Klockars, Colleen A Campbell, Richard JH Smith, Hans-Henrik M Dahl

Journal article  |  2007  |  HEARING RESEARCH

Recent developments in molecular genetics, including progress in the human genome project, have allowed identification of genes at..

Auditory hair cell explant co-cultures promote the differentiation of stem cells into bipolar neurons

B Coleman, JB Fallon, LN Pettingill, MG de Silva, RK Shepherd

Journal article  |  2007  |  EXPERIMENTAL CELL RESEARCH

Auditory neurons, the target neurons of the cochlear implant, degenerate following a sensorineural hearing loss. The goal of this ..

Cochlear implants for DFNA17 deafness

Michael S Hildebrand, Michelle G de Silva, RJ McKinlay Gardner, Elizabeth Rose, Carolyn A de Graaf, Melanie Bahlo, Hans-Henrik M Dahl

Journal article  |  2006  |  LARYNGOSCOPE

BACKGROUND: Nonsyndromic autosomal-dominant, adult-onset sensorineural hearing loss resulting from DFNA17 was described in a singl..