Carolyn Ellaway

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 500 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa Ewans, Deborah Schofield, Rupendra Shrestha et al. · Genetics in Medicine · 2018 · 196 citations

Life Sciences, Genetics, Molecular Genetics +14

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy et al. · PEDIATRICS · 2009 · 165 citations

Public Health, Child Health, Pediatrics +17

Guidelines for reporting clinical features in cases with MECP2 mutations

Alison Kerr, Yoshiko Nomura, Dawna Armstrong et al. · Brain and Development · 2001 · 146 citations

Life Sciences, Genetics, Molecular Genetics +13

Sleep problems in Rett syndrome

Deidra J. Young, Lakshmi Nagarajan, Peter Jacoby et al. · Brain and Development · 2007 · 133 citations · Full text

Medicine, Neurology, Psychiatry +11