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Authors: Lynette G Sadleir
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Journal Article

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

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Erandee Robertson and others
NAR Genomics and Bioinformatics, Volume 7, Issue 2, June 2025, lqaf033, https://doi.org/10.1093/nargab/lqaf033
Published: 04 April 2025
Journal Article

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

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Timothy E Green and others
Human Molecular Genetics, Volume 31, Issue 14, 15 July 2022, Pages 2307–2316, https://doi.org/10.1093/hmg/ddab366
Published: 08 February 2022
Journal Article

CHD2 variants are a risk factor for photosensitivity in epilepsy

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Elizabeth C. Galizia and others
Brain, Volume 138, Issue 5, May 2015, Pages 1198–1208, https://doi.org/10.1093/brain/awv052
Published: 16 March 2015
Journal Article

The spectrum of SCN1A-related infantile epileptic encephalopathies Get access

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Louise A. Harkin and others
Brain, Volume 130, Issue 3, March 2007, Pages 843–852, https://doi.org/10.1093/brain/awm002
Published: 01 March 2007
Chapter

Epilepsies That Occur Predominantly in Girls Get access

Lynette G Sadleir and others
in Neurobiology of Disease (2 edn)
Published: 01 August 2016