Robin Forbes
YOU?
Author Swipe
View article: Quality improvement project to transition psychosocial oncology clinical care to a telehealth workflow during the COVID-19 pandemic: a quasi-experimental study
Quality improvement project to transition psychosocial oncology clinical care to a telehealth workflow during the COVID-19 pandemic: a quasi-experimental study Open
Introduction The COVID-19 pandemic created an urgent need for an innovative method of care delivery for psychosocial oncology. The psychosocial oncology services at the University Health Network in Toronto, Canada transitioned expeditiousl…
View article: Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient Open
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the COL6A1 gene to induced …
View article: A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study Open
No funding was received for this study.
View article: Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program Open
Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings requ…
View article: Quality Improvement Project to Transition Psychosocial Oncology Clinical Care to a Telehealth Workflow during the COVID-19 Pandemic: a Quasi-Experimental Study
Quality Improvement Project to Transition Psychosocial Oncology Clinical Care to a Telehealth Workflow during the COVID-19 Pandemic: a Quasi-Experimental Study Open
Introduction. The COVID-19 pandemic created an urgent need for an innovative method of care delivery for psychosocial oncology. The psychosocial oncology services at the University Health Network in Toronto, Canada transitioned expeditious…
View article: Psychosocial and supportive care needs of individuals with advanced myeloma
Psychosocial and supportive care needs of individuals with advanced myeloma Open
Purpose: The purpose of this qualitative study is to understand, from the patient’s perspective, their experience of living with advanced multiple myeloma, the psychosocial impact, and needs for support in managing and adapting to this ill…
View article: 2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now?
2240 The Australian Neuromuscular Disease Registry (ANMDR) – what is it and why now? Open
Background The Australian Neuromuscular Disease Registry (ANMDR) is the only national neuromuscular disease registry. Established in January 2020, we collect clinical and genetic data on Australians of all ages living with neuromuscular di…
View article: Delivering multidisciplinary neuromuscular care for children via telehealth
Delivering multidisciplinary neuromuscular care for children via telehealth Open
Introduction/Aims In response to coronavirus disease 2019 (COVID‐19) pandemic restrictions int 2020, our face‐to‐face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned to widespread use of telehealth (TH). This study aimed to…
View article: Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient Open
To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the ACTA1 gene to iPSCs. Using CRISPR/Cas9 gene editing we…
View article: Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study
Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study Open
Aim In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic carriers of the condition. This study is the first to explore how siblings of patients with SMA learn about the …
View article: Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles Open
This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200) alleles, with autism. At 4 years of age chromosomal mi…
View article: Nusinersen for SMA: expanded access programme
Nusinersen for SMA: expanded access programme Open
Background Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EA…