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2021 Journal Article Caregivers report on the pathway to a formal diagnosis of Angelman Syndrome: a comparison across genetic eetiologies within the Global Angelman Syndrome RegistryRoche, Laura, Tones, Megan, Williams, Mark G., Cross, Meagan, Simons, Chloe and Heussler, Helen (2021). Caregivers report on the pathway to a formal diagnosis of Angelman Syndrome: a comparison across genetic eetiologies within the Global Angelman Syndrome Registry. Advances in Neurodevelopmental Disorders, 5 (2), 193-203. doi: 10.1007/s41252-021-00195-w |
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2021 Journal Article Cannabidiol and Neurodevelopmental Disorders in ChildrenKwan Cheung, Keith A., Mitchell, Murray D. and Heussler, Helen S. (2021). Cannabidiol and Neurodevelopmental Disorders in Children. Frontiers in Psychiatry, 12 643442, 1-14. doi: 10.3389/fpsyt.2021.643442 |
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2021 Journal Article Emerging Therapies and challenges for individuals with Angelman syndromeHeussler, Helen S. (2021). Emerging Therapies and challenges for individuals with Angelman syndrome. Current Opinion in Psychiatry, 34 (2), 123-128. doi: 10.1097/YCO.0000000000000674 |
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2021 Journal Article Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutationsBossuyt, Stijn N. V., Punt, A Mattijs, de Graaf, Ilona J., van den Burg, Janny, Williams, Mark G., Heussler, Helen, Elgersma, Ype and Distel, Ben (2021). Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Human Molecular Genetics, 30 (6), 430-442. doi: 10.1093/hmg/ddab050 |
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2021 Journal Article Analysis of common genetic variation and rare CNVs in the Australian Autism BiobankYap, Chloe X., Alvares, Gail A., Henders, Anjali K., Lin, Tian, Wallace, Leanne, Farrelly, Alaina, McLaren, Tiana, Berry, Jolene, Vinkhuyzen, Anna A. E., Trzaskowski, Maciej, Zeng, Jian, Yang, Yuanhao, Cleary, Dominique, Grove, Rachel, Hafekost, Claire, Harun, Alexis, Holdsworth, Helen, Jellett, Rachel, Khan, Feroza, Lawson, Lauren, Leslie, Jodie, Levis Frenk, Mira, Masi, Anne, Mathew, Nisha E., Muniandy, Melanie, Nothard, Michaela, Visscher, Peter M., Dawson, Paul A., Dissanayake, Cheryl ... Gratten, Jacob (2021). Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. Molecular Autism, 12 (1) 12, 12. doi: 10.1186/s13229-020-00407-5 |
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2021 Journal Article Sleep problems in Australian children with Down syndrome: the need for greater awarenessChawla, Jasneek K., Howard, Aidan, Burgess, Scott and Heussler, Helen (2021). Sleep problems in Australian children with Down syndrome: the need for greater awareness. Sleep Medicine, 78, 81-87. doi: 10.1016/j.sleep.2020.12.022 |
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2021 Journal Article Cognitive parameters in children with mild obstructive sleep disordered breathingChawla, Jasneek, Harris, Margaret-Anne, Black, Robert, Leclerc, Marie-Josee, Burns, Hannah, Waters, Karen A., Bernard, Anne, Lushington, Kurt and Heussler, Helen (2021). Cognitive parameters in children with mild obstructive sleep disordered breathing. Sleep and Breathing, 25 (3), 1625-1634. doi: 10.1007/s11325-020-02264-1 |
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2021 Journal Article Clinical outcomes and associated predictors of early intervention in autism spectrum disorder: a study protocolMasi, Anne, Dissanayake, Cheryl, Alach, Tasha, Cameron, Kate, Fordyce, Kathryn, Frost, Grace, Grove, Rachel, Heussler, Helen, Silove, Natalie, Sulek, Rhylee, Tucker, Madonna, Williams, Katrina and Eapen, Valsamma (2021). Clinical outcomes and associated predictors of early intervention in autism spectrum disorder: a study protocol. Bmj Open, 11 (8) e047290, e047290. doi: 10.1136/bmjopen-2020-047290 |
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2020 Journal Article The impact of sleep problems on functional and cognitive outcomes in children with Down syndrome: a review of the literatureChawla, Jasneek K., Burgess, Scott and Heussler, Helen (2020). The impact of sleep problems on functional and cognitive outcomes in children with Down syndrome: a review of the literature. The Journal of Clinical Sleep Medicine, 16 (10), 1785-1795. doi: 10.5664/jcsm.8630 |
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2020 Journal Article Communication in 22q11.2 Deletion Syndrome: a Brief Overview of the Profile, Intervention Approaches, and Future ConsiderationsRoche, Laura, Campbell, Linda and Heussler, Helen (2020). Communication in 22q11.2 Deletion Syndrome: a Brief Overview of the Profile, Intervention Approaches, and Future Considerations. Current Developmental Disorders Reports, 7 (3), 124-129. doi: 10.1007/s40474-020-00208-8 |
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2020 Journal Article KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina ... Newbury-Ecob, Ruth (2020). KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019). Genetics in Medicine, 22 (11), 1920-1920. doi: 10.1038/s41436-020-00944-7 |
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2020 Journal Article ENACT (ENvironmental enrichment for infants; parenting with Acceptance and Commitment Therapy): a randomised controlled trial of an innovative intervention for infants at risk of autism spectrum disorderWhittingham, Koa, McGlade, Andrea, Kulasinghe, Kavindri, Mitchell, Amy E., Heussler, Honey and Boyd, Roslyn N. (2020). ENACT (ENvironmental enrichment for infants; parenting with Acceptance and Commitment Therapy): a randomised controlled trial of an innovative intervention for infants at risk of autism spectrum disorder. BMJ Open, 10 (8) e034315, 1-10. doi: 10.1136/bmjopen-2019-034315 |
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2020 Journal Article Congenital heart disease long-term improvement in functional health (CHD LIFE): a partnership program to improve the long-term functional health of children with congenital heart disease in QueenslandEagleson, Karen, Campbell, Miranda, McAlinden, Bronagh, Heussler, Helen, Pagel, Susan, Webb, Kerri-Lyn, Stocker, Christian, Alphonso, Nelson and Justo, Robert (2020). Congenital heart disease long-term improvement in functional health (CHD LIFE): a partnership program to improve the long-term functional health of children with congenital heart disease in Queensland. Journal of Paediatrics and Child Health, 56 (7) jpc.14935, 1003-1009. doi: 10.1111/jpc.14935 |
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2020 Journal Article Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndromeDawson, Paul A., Lee, Soohyun, Ewing, Adam D., Prins, Johannes B. and Heussler, Helen S. (2020). Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome. Molecular Genetics and Metabolism Reports, 23 100593, 100593. doi: 10.1016/j.ymgmr.2020.100593 |
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2020 Journal Article Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndromeAdams, Dawn, Roche, Laura and Heussler, Helen (2020). Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome. American Journal of Medical Genetics Part A, 182 (7) ajmg.a.61631, 1716-1724. doi: 10.1002/ajmg.a.61631 |
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2020 Journal Article A systematic review of the effectiveness of sleep hygiene in children with ADHDNikles, Jane, Mitchell, Geoffrey Keith, de Miranda Araújo, Rossiniê, Harris, Thomas, Heussler, Helen S., Punja, Salima, Vohra, Sunita and Senior, Hugh Edgar John (2020). A systematic review of the effectiveness of sleep hygiene in children with ADHD. Psychology, Health and Medicine, 25 (4), 497-518. doi: 10.1080/13548506.2020.1732431 |
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2020 Journal Article Protocol for a longitudinal study of melatonin therapy and cost effectiveness analysis in stimulant-treated children with ADHD and insomnia: an N-of-1 trialEdelson, Jaclyn, Byrnes, Josh, Mitchell, Geoffrey, Heussler, Helen, Melaku, Megdelawit and Nikles, Jane (2020). Protocol for a longitudinal study of melatonin therapy and cost effectiveness analysis in stimulant-treated children with ADHD and insomnia: an N-of-1 trial. Contemporary Clinical Trials Communications, 17 100530, 100530. doi: 10.1016/j.conctc.2020.100530 |
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2020 Journal Article Cognition after early tonsillectomy for mild OSAWaters, Karen A., Chawla, Jasneek, Harris, Margaret-Anne, Heussler, Helen, Black, Robert J., Cheng, Alan T. and Lushington, Kurt (2020). Cognition after early tonsillectomy for mild OSA. Pediatrics, 145 (2) e20191450, e20191450. doi: 10.1542/peds.2019-1450 |
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2020 Journal Article Paper based vs. electronic records for clinical audit: Evidence of documentation of medication safety monitoring in youth prescribed antipsychoticsAouira, Nisreen, Khan, Sohil, McDermott, Brett, Heussler, Helen, Haywood, Alison, Karaksha, Abdullah and Bor, William (2020). Paper based vs. electronic records for clinical audit: Evidence of documentation of medication safety monitoring in youth prescribed antipsychotics. Children and Youth Services Review, 109 104666, 1-6. doi: 10.1016/j.childyouth.2019.104666 |
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2020 Journal Article Optimising immunisation in children with 22q11 microdeletionBerkhout, Angela, Preece, Kahn, Varghese, Vanil, Prasad, Vinita, Heussler, Helen, Clark, Julia and Wen, Sophie C. H. (2020). Optimising immunisation in children with 22q11 microdeletion. Therapeutic Advances in Vaccines and Immunotherapy, 8 251513552095713, 1-7. doi: 10.1177/2515135520957139 |
