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Human Mutation|December 18, 2018
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detectionMark J Cowley, Yu-Chi Liu, Karen L Oliver, et al.
Brain : a Journal of Neurology|February 24, 2019
Dorsal language stream anomalies in an inherited speech disorderFrédérique J Liégeois, Samantha J Turner, Angela Mayes, et al.
Epilepsia|March 10, 2017
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and TerminologyIngrid E Scheffer, Samuel Berkovic, Giuseppe Capovilla, et al.
Communications Biology|May 31, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variantsGéza Berecki, Katherine B Howell, Jacqueline Heighway, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.
Human Genetics|April 5, 2024
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathyAhmed N Sahly, Juan Sierra-Marquez, Stefanie Bungert-Plümke, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2016
Epilepsy in KCNH1-related syndromesMario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, et al.
Plos Genetics|November 30, 2017
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutationsXiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
Molecular Psychiatry|February 22, 2018
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech developmentElse Eising, Amaia Carrion-Castillo, Arianna Vino, et al.
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