Search Results - David J Amor

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  1. 1

    Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome by Crystle Lee, Ellen Casey, David J. Amor

    Published in Molecular Genetics & Genomic Medicine (2025-10-01)
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  2. 2

    Research Themes in KAT6A Syndrome: A Scoping Review by Tanya Tripathi, Miya St John, Jordan Wright, Natacha Esber, David J. Amor

    Published in DNA (2025-04-01)
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  3. 3

    Family-centred care for children with traumatic brain injury and/or spinal cord injury: a qualitative study of service provider perspectives during the COVID-19 pandemic by Vicki Anderson, Adam Scheinberg, Sarah Knight, David J Amor, Anna Pollock, Kate D’Cruz, Edith Botchway, Louise Harms, Bruce Bonyhady

    Published in BMJ Open (2022-06-01)
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  4. 4

    Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study by Cecilia Pynaker, Jacqui McCoy, Jane Halliday, Sharon Lewis, David J. Amor, Susan P. Walker, Lisa Hui, On behalf of the PALM cohort study group

    Published in BMC Pediatrics (2024-08-01)
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  5. 5

    Social and physical predictors of mental health impact in adult women who have an FMR1 premutation by Claudine M. Kraan, Minh Bui, Alison Archibald, Sonia Davison, Rachel C. Cvejic, Sylvia Metcalfe, David J. Amor, Julian N. Trollor, Jonathan Cohen, Kim Cornish

    Published in Genetics in Medicine Open (2023-01-01)
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  6. 6

    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review by Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Y. Tan

    Published in Molecular Genetics & Genomic Medicine (2020-11-01)
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  7. 7

    Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol by John Christodoulou, Christopher Gyngell, Stephanie Best, Clara Gaff, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Lilian Downie, Sebastian Lunke, David J Amor, Alison Yeung, Simon Sadedin, Fiona Lynch, Sophie E Bouffler, Danya F Vears, Jade Caruana, Alison Archibald, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Riccarda Peters, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall

    Published in BMJ Open (2024-04-01)
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  8. 8

    Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

    Published in Nature Communications (2024-10-01)
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  9. 9

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

    Published in Nature Communications (2024-07-01)
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