Joss, Shelagh K.

Top Publications

Top Publications Authored or Co-Authored by "Joss, Shelagh K."

• RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

  Human Mutation, Volume 34, No. 12, Year 2013, Citations 221
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

  Molecular Psychiatry, Volume 28, No. 2, Year 2023, Citations 99
• SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

  Annals of Neurology, Volume 88, No. 2, Year 2020, Citations 37
• Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

  Human Mutation, Volume 39, No. 9, Year 2018, Citations 36