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Literature DB >> 24818677

Diagnostic yield of clinical next-generation sequencing panels for epilepsy.

Jason Wang¹, Garrett Gotway², Juan M Pascual³, Jason Y Park¹.

Abstract

Entities: Disease

Mesh：

Year: 2014 PMID： 24818677 DOI： 10.1001/jamaneurol.2014.405

Source DB: PubMed Journal: JAMA Neurol ISSN： 2168-6149 Impact factor: 18.302

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25 in total

Review 1. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors: Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal: Mol Diagn Ther Date: 2017-08 Impact factor: 4.074

2. Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

Authors: Christopher J Yuskaitis; Beth Rosen Sheidley; Annapurna Poduri
Journal: JAMA Pediatr Date: 2018-08-01 Impact factor: 16.193

3. Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Authors: Iván Sánchez Fernández; Tobias Loddenkemper; Marina Gaínza-Lein; Beth Rosen Sheidley; Annapurna Poduri
Journal: Neurology Date: 2019-01-04 Impact factor: 9.910

Review 4. A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders.

Authors: Patrick Fahr; James Buchanan; Sarah Wordsworth
Journal: Pharmacoeconomics Date: 2020-02 Impact factor: 4.981

5. Clinical genomics: when whole genome sequencing is like a whole-body CT scan.

Authors: Jason Y Park; Larry J Kricka; Peter Clark; Eric Londin; Paolo Fortina
Journal: Clin Chem Date: 2014-08-11 Impact factor: 8.327

6. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Authors: Rikke S Møller; Line H G Larsen; Katrine M Johannesen; Inga Talvik; Tiina Talvik; Ulvi Vaher; Maria J Miranda; Muhammad Farooq; Jens E K Nielsen; Lene Lavard Svendsen; Ditte B Kjelgaard; Karen M Linnet; Qin Hao; Peter Uldall; Mimoza Frangu; Niels Tommerup; Shahid M Baig; Uzma Abdullah; Alfred P Born; Pia Gellert; Marina Nikanorova; Kern Olofsson; Birgit Jepsen; Dragan Marjanovic; Lana I K Al-Zehhawi; Sofia J Peñalva; Bente Krag-Olsen; Klaus Brusgaard; Helle Hjalgrim; Guido Rubboli; Deb K Pal; Hans A Dahl
Journal: Mol Syndromol Date: 2016-08-20

7. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Authors: Oliver James Dillon; Sebastian Lunke; Zornitza Stark; Alison Yeung; Natalie Thorne; Clara Gaff; Susan M White; Tiong Yang Tan
Journal: Eur J Hum Genet Date: 2018-02-16 Impact factor: 4.246