The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

doi:10.1016/j.jns.2020.117260

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Article

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Journal of the neurological sciences - 15 Jan 2021

Eratne Dhamidhu, Schneider Amy, Lynch Ella, Martyn Melissa, Velakoulis Dennis, Fahey Michael, Kwan Patrick, Leventer Richard, Rafehi Haloom, Chong Belinda, Stark Zornitza, Lunke Sebastian, Phelan Dean G, O'Keefe Melanie, Siemering Kirby, West Kirsty, Sexton Adrienne, Jarmolowicz Anna, Taylor Jessica A, Schultz Joshua, Purvis Rebecca, Uebergang Eloise, Chalinor Heather, Creighton Belinda, Gelfand Nikki, Saks Tamar, Prawer Yael, Smagarinsky Yana, Pan Tianxin, Goranitis Ilias, Ademi Zanfina, Gaff Clara, Huq Aamira, Walsh Maie, James Paul A, Krzesinski Emma I, Wallis Mathew, Stutterd Chloe A, Bahlo Melanie, Delatycki Martin B, Berkovic Samuel F

Abstract excerpt

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings, utilised standard NGS pipelines focusing only on small insertions, deletions and single nucleotide variants, and not explored impacts on management in detail. This...

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PMID: 33310205
DOI: 10.1016/j.jns.2020.117260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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