Stephanie Fehr
Royal Children's Hospital(AU)University of Melbourne(AU)The Kids Research Institute Australia(AU)University of Western Australia(AU)Curtin University(AU)Children's Hospital at Westmead(AU)Princess Margaret Cancer Centre(CA)Maxwell Institute for Mathematical Sciences(GB)Murdoch Children's Research Institute(AU)University of Edinburgh(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Family and Disability Support Research, Genomics and Rare Diseases
Most-Cited Works
- → The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy(2012)310 cited
- → Trends in the Diagnosis of Rett Syndrome in Australia(2011)146 cited
- → There is variability in the attainment of developmental milestones in the CDKL5 disorder(2015)103 cited
- → Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder(2016)102 cited
- → Functional abilities in children and adults with the CDKL5 disorder(2016)95 cited
- → Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome(2011)43 cited