Publications by authors named "Robin Forbes"

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Quality improvement project to transition psychosocial oncology clinical care to a telehealth workflow during the COVID-19 pandemic: a quasi-experimental study.
Rickinder Sethi, Brendan Lyver, Jaswanth Gorla, Robin Forbes, Kathleen A Sheehan

BMC Health Serv Res· November 2025

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Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3.
Chantal A Coles, Sedi Jalali, Katy de Valle, Nick Manton, Vasiliki Karlaftis, Robin Forbes

J Neurol Sci· September 2025

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Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort study.
Zoe E Davidson, Suzanna Vidmar, Amanda Griffiths, Mark E Howard, David J Berlowitz, Robin Forbes

Lancet Reg Health West Pac· May 2025

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Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient.
Vanessa G Crossman, Chrystal F Tiong, Chantal A Coles, Kiymet Bozaoglu, Robin Forbes

Stem Cell Res· April 2025

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A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.
Lakshmi Balaji, Robin Forbes, Anita Cairns, Hugo Sampaio, Andrew J Kornberg

Lancet Reg Health West Pac· December 2024

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International collaboration to improve knowledge on myotonic dystrophy type 2.
Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, Belen Esparis, Craig Campbell, Robin Forbes

J Neuromuscul Dis· November 2024

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Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.
Kirsten Boggs, Fiona Lynch, Michelle Ward, Sophie E Bouffler, Samantha Ayres, Robin Forbes

Genet Med Open· July 2024

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Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.
Limin Li, Manoj P Menezes, Melanie Smith, Robin Forbes, Stephan Züchner

Neuromuscul Disord· April 2024

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[Not Available].
Suzanne Rowland, Robin Forbes, Doris Howell, Helen Kelly, Arta Taghavi Haghayegh

Can Oncol Nurs J· April 2023

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Psychosocial and supportive care needs of individuals with advanced myeloma.
Suzanne Rowland, Robin Forbes, Doris Howell, Helen Kelly, Arta Taghavi Haghayegh

Can Oncol Nurs J· April 2023

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Delivering multidisciplinary neuromuscular care for children via telehealth.
Kate Carroll, Justine Adams, Katy de Valle, Robin Forbes, Rachel A Kennedy

Muscle Nerve· July 2022

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Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.
Peter J Houweling, Chantal A Coles, Chrystal F Tiong, Bridget Nielsen, Alison Graham, Robin Forbes

Stem Cell Res· July 2021

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Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.
Ellen Pieper, Adrienne Sexton, Monique M Ryan, Robin Forbes

J Paediatr Child Health· August 2020

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False Negative Carrier Screening in Spinal Muscular Atrophy.
Sophie Butcher, Melanie Smith, Ian R Woodcock, Martin Delatycki, Monique M Ryan, Robin Forbes

J Child Neurol· March 2020

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Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Alison Pandelache, Emma K Baker, Solange M Aliaga, Marta Arpone, Robin Forbes

Genes (Basel)· April 2019

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Nusinersen for SMA: expanded access programme.
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes

J Neurol Neurosurg Psychiatry· September 2018

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Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Robin Forbes

Genet Med· December 2017

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'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.
Emily J Higgs, Belinda J McClaren, Margaret Ar Sahhar, Monique M Ryan, Robin Forbes

J Paediatr Child Health· January 2016

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X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
Colleen D'Arcy, Voula Kanellakis, Robin Forbes, Brendan Wilding, Meagan McGrath

J Child Neurol· August 2015

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5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg

Am J Med Genet A· October 2013

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Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Robin Forbes

Am J Med Genet A· July 2011

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Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
David P Dimasi, Jern Y Chen, Alex W Hewitt, Sonja Klebe, Richard Davey, Robin Forbes

Hum Genet· January 2010

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Consumer contribution to the delivery of genetic health services.
Amy Nisselle, Robin Forbes, Agnes Bankier, Eilís Hughes, Maryanne Aitken

Am J Med Genet A· September 2008

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Letter to the editor journal of genetic counseling. When you care enough to do your very best: genetic counselor experiences of compassion fatigue.
Margaret Sahhar, Michael Bogwitz, Erica Brown, Robin Forbes, Jacqueline Greenberg

J Genet Couns· February 2008

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Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.
John Massie, Robin Forbes, Desiree Dusart, Agnes Bankier, Martin B Delatycki

J Paediatr Child Health· November 2007

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