The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review

by Christina Q. Nguyen, Kristine Alba-Concepcion, Elizabeth E. Palmer, Jackie L. Scully, Nicole Millis, Michelle A. Farrar
Published 2022-04-01

Co-design, implementation, and evaluation of plain language genomic test reports

by Gemma R. Brett, Aisha Ward, Sophie E. Bouffler, Elizabeth E. Palmer, Kirsten Boggs, Fiona Lynch, Amanda Springer, Amy Nisselle, Zornitza Stark
Published 2022-10-01

Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies

by Suzanne M. Nevin, Claire E. Wakefield, Ann Dadich, Fleur LeMarne, Rebecca Macintosh, Erin Beavis, Rani Sachdev, Ann Bye, Kenneth Nunn, Elizabeth E. Palmer
Published 2022-12-01

Application of Deep Learning Models for Automated Identification of Parkinson’s Disease: A Review (2011–2021)

by Hui Wen Loh, Wanrong Hong, Chui Ping Ooi, Subrata Chakraborty, Prabal Datta Barua, Ravinesh C. Deo, Jeffrey Soar, Elizabeth E. Palmer, U. Rajendra Acharya
Published 2021-10-01

‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics

by Christina Q. Nguyen, Didu Kariyawasam, Kristine Alba‐Concepcion, Sarah Grattan, Kate Hetherington, Claire E. Wakefield, Susan Woolfenden, Russell C. Dale, Elizabeth E. Palmer, Michelle A. Farrar
Published 2022-12-01

Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol

by Stephanie Best, Elizabeth E Palmer, Lauren Kelada, Rani Sachdev, Eden G Robertson, I Goranitis, Natalie Grainger, Fleur Le Marne, Kristine Pierce, Suzanne M Nevin, Rebecca Macintosh, Erin Beavis, Annie Bye
Published 2022-10-01

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

by Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
Published 2018-09-01

Significantly Elevated <i>FMR1</i> mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

by Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G. Phelan, Elizabeth E. Palmer, David J. Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E. Godler
Published 2019-08-01

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01