Publications by authors named "Ann Bye"

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Connect, pause and reflect: Multidisciplinary clinicians' shared challenges and sustaining strategies caring for children with Severe Neurological Impairment.
Suzanne M Nevin, Fleur A Le Marne, Lauren Kelada, Claire E Wakefield, Erin Beavis, Ann Bye

Eur J Paediatr Neurol· November 2025

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Psychological wellbeing among parents of a child living with a serious chronic illness: A cross-sectional survey study.
Eden G Robertson, Lauren Kelada, Robert Ilin, Elizabeth Emma Palmer, Ann Bye

J Child Health Care· September 2025

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Psychosocial experiences of clinicians providing care for children with severe neurological impairment.
Suzanne M Nevin, Fleur A Le Marne, Erin Beavis, Rebecca Macintosh, Elizabeth E Palmer, Ann Bye

Dev Med Child Neurol· December 2024

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Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Emily A Innes, Fleur Annette Le Marne, Rebecca Macintosh, Suzanne M Nevin, Nancy E Briggs, Ann M E Bye

Seizure· February 2024

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"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Eden G Robertson, Natalie J Roberts, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Ann Bye

Eur J Paediatr Neurol· November 2023

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Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme.
Fleur A Le Marne, Nancy Briggs, Katie Frith, Didu Kariyawasam, Hugh J McCarthy, Ann Me Bye

J Paediatr Child Health· February 2023

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Understanding the ongoing learning needs of Australian metropolitan, rural and remote paediatricians: Evaluation of a neurology outreach programme.
Fleur A Le Marne, Lila M Stephens, Kira Kranzusch, Pushpika C Gunaratne, Patrick J Ryan, Ann Me Bye

J Paediatr Child Health· January 2023

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Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning.
Lauren Kelada, Claire E Wakefield, Donna Drew, Chee Y Ooi, Elizabeth E Palmer, Ann Bye

J Child Health Care· December 2022

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Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.
Suzanne M Nevin, Claire E Wakefield, Ann Dadich, Fleur LeMarne, Rebecca Macintosh, Ann Bye

PEC Innov· December 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.
Ann Me Bye, Fleur A Le Marne, Erin Beavis, Rebecca Macintosh, Suzanne M Nevin

J Paediatr Child Health· October 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.
Elizabeth E Palmer, Rani Sachdev, Erin Beavis, Rebecca Macintosh, Fleur A Le Marne, Ann Me Bye

J Paediatr Child Health· October 2022

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Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.
Suzanne M Nevin, Erin Beavis, Rebecca Macintosh, Elizabeth E Palmer, Rani Sachdev, Ann Me Bye

J Paediatr Child Health· October 2022

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It's made a really hard situation even more difficult: The impact of COVID-19 on families of children with chronic illness.
Jordana McLoone, Claire E Wakefield, Glenn M Marshall, Kristine Pierce, Adam Jaffe, Ann Bye

PLoS One· September 2022

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Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy.
Suzanne M Nevin, Claire E Wakefield, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Ann Bye

Eur J Paediatr Neurol· March 2022

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Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Ann Bye

Neurology· March 2021

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Evaluation of an educational video providing key messages for doctors to counsel families following a first afebrile seizure.
Eleanor W M Ng, Fleur Le Marne, Kate G Sinclair, Michelle S Lorentzos, Michaela Waak, Ann Bye

J Paediatr Child Health· February 2021

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Elizabeth E Palmer, Renee Carroll, Marie Shaw, Raman Kumar, Andre E Minoche, Ann Bye

Am J Hum Genet· December 2020

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The information needs of parents of children with early-onset epilepsy: A systematic review.
Suzanne M Nevin, Claire E Wakefield, Clarissa E Schilstra, Brittany C McGill, Ann Bye

Epilepsy Behav· November 2020

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Cardiac phenotype in -related syndromes: A multicenter cohort study.
Simona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S Hunanyan, Ann M E Bye

Neurology· November 2020

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Ann Bye

Am J Hum Genet· April 2019

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Ann Bye

Am J Hum Genet· March 2019

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EpApp: Development and evaluation of a smartphone/tablet app for adolescents with epilepsy.
Fleur A Le Marne, Sharlene Butler, Erin Beavis, Deepak Gill, Ann M E Bye

J Clin Neurosci· April 2018

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, Ann Bye

Mol Genet Genomic Med· March 2018

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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Vincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, Li Wang, Carolyn J Adamski, Ann Bye

Cell· February 2018

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A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Sushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, Tejaswi Kandula, Rebecca Macintosh, Ann Bye

Cell Rep· October 2017

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