Anne-Marie Childs

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Derek Neilson, Mark D. Adams, Caitlin M.D. Orr et al. · The American Journal of Human Genetics · 2009 · 349 citations · Full text

Genetic Disorder, Pathogenesis, Nuclear Pore +8

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Fatemeh Geranmayeh, Emma Clement, Lucy Feng et al. · Neuromuscular Disorders · 2010 · 202 citations

Genetic Disorder, Genetics, Genotype–phenotype Correlation +7

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Peter Green, Matthew Wiseman, Yanick J. Crow et al. · The American Journal of Human Genetics · 2010 · 195 citations · Full text

Genetic Disorder, Congenital Disorders, Progressive Supranuclear Palsy +6

Magnetic Resonance and Cranial Ultrasound Characteristics of Periventricular White Matter Abnormalities in Newborn Infants

Anne-Marie Childs, Luc Cornette, Luca A. Ramenghi et al. · Clinical Radiology · 2001 · 112 citations

Developmental Anomaly, Neonatology, Newborn Infants +11

Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Subrahmanian Dipti, Anne-Marie Childs, John H. Livingston et al. · Brain and Development · 2004 · 54 citations

Down Syndrome, Mendelian Disorder, Genetic Disorder +7