Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy-Reference-Cited by-同舟云学术

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Genetic variant interpretation for the neurologist – A pragmatic approach in the next-generation sequencing era in childhood epilepsy

Published:2024-03 Issue: Volume:201 Page:107341
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Fasaludeen Alfiya,McTague Amy,Jose Manna,Banerjee Moinak,Sundaram Soumya,Madhusoodanan U.K.,Radhakrishnan Ashalatha,Menon Ramshekhar N.

Funder

National Institute for Health and Care Research

ICMR

Publisher

Elsevier BV

Reference79 articles.

1. Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children;Aaltio;Eur. J. Paediatr. Neurol.: EJPN: Off. J. Eur. Paediatr. Neurol. Soc.,2022

2. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

3. Recent advances in the detection of repeat expansions with short-read next-generation sequencing;Bahlo;F1000Research,2018

4. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies;Balestrini;J. Neurol., Neurosurg., Psychiatry,2021

5. Estimating diagnostic noise in panel-based genomic analysis;Beaumont;Genet. Med.: Off. J. Am. Coll. Med. Genet.,2022

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