1. Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing. Issue 12 (14th June 2016) Authors: Teoh, Hooi Ling; Sampaio, Hugo; Roscioli, Tony; Farrar, Michelle Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 12(2016) Page Start: 1384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020) Authors: Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021) Authors: Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uirá Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; S... Journal: Neurology Issue: Volume 96:Number 13(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial. Issue 7 (July 2021) Authors: Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen Journal: Clinical nutrition Issue: Volume 40:Issue 7(2021) Page Start: 4702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Endovascular clot retrieval for acute ischaemic stroke due to basilar artery occlusion in childhood. (3rd January 2020) Authors: Macdonald‐Laurs, Emma; Wenderoth, Jason; Cardamone, Michael; Sampaio, Hugo; Andrews, P Ian Journal: Developmental medicine & child neurology Issue: Volume 62:Number 10(2020) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency. (August 2016) Authors: Perera, Nadia; Sampaio, Hugo; Woodhead, Helen; Farrar, Michelle Journal: Journal of child neurology Issue: Volume 31:Number 9(2016:Sep.) Page Start: 1181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Growth and nutrition in pediatric neuromuscular disorders. Issue 6 (June 2021) Authors: Chou, Elle; Lindeback, Rachel; D'Silva, Arlene M.; Sampaio, Hugo; Neville, Kristen; Farrar, Michelle A. Journal: Clinical nutrition Issue: Volume 40:Issue 6(2021) Page Start: 4341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy. (28th May 2017) Authors: Teoh, Hooi Ling; Carey, Kate; Sampaio, Hugo; Mowat, David; Roscioli, Tony; Farrar, Michelle Other Names: Wyss J. Michael Academic Editor. Journal: Neural plasticity Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Issue 2 (4th January 2018) Authors: Palmer, Elizabeth E.; Schofield, Deborah; Shrestha, Rupendra; Kandula, Tejaswi; Macintosh, Rebecca; Lawson, John A.; Andrews, Ian; Sampaio, Hugo; Johnson, Alexandra M.; Farrar, Michelle A.; Cardamone, Michael; Mowat, David; Elakis, George; Lo, William; Zhu, Ying; Ying, Kevin; Morris, Paula; Tao, ... Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 2(2018) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study. (March 2023) Authors: Kariyawasam, Didu S; D'Silva, Arlene M; Sampaio, Hugo; Briggs, Nancy; Herbert, Karen; Wiley, Veronica; Farrar, Michelle A Journal: Lancet Issue: Volume 7:Number 3(2023) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗