Rachael Birch

Genotype–phenotype associations in <i>SCN1A</i> -related epilepsies

Sameer M. Zuberi, Andreas Brunklaus, Rachael Birch et al. · Neurology · 2011 · 251 citations

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Simon Ramsden, Jill Clayton‐Smith, Rachael Birch et al. · BMC Medical Genetics · 2010 · 135 citations · Full text

De novo <i>SCN1A</i> mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin: Table 1

Sarah E. Heron, Ingrid E. Scheffer, Xenia Iona et al. · Journal of Medical Genetics · 2009 · 52 citations

A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus

John H. Livingston, J. Helen Cross, Ailsa McLellan et al. · Journal of Child Neurology · 2009 · 48 citations

Generalized Epilepsy, Scn1a Mutations, Novel Scn1a Mutation +14

Preliminary evidence of an effect of cerebellar volume on postural sway in <i>FMR1</i> premutation males

Rachael Birch, Darren R. Hocking, Kim Cornish et al. · Genes Brain & Behavior · 2015 · 26 citations · Full text