Amanda Collins

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier et al. · The American Journal of Human Genetics · 2009 · 343 citations · Full text

Molecular Neuroscience, Developmental Biology, Genetic Disorder +8

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

D. Gareth Evans, Julian Barwell, Diana Eccles et al. · Breast Cancer Research · 2014 · 309 citations · Full text

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt, James J. Cox, John Barber et al. · The American Journal of Human Genetics · 2005 · 295 citations · Full text

Molecular Characterization, Gene Deletion Data, Genetic Disorder +10

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

Rong Li, Gajja S. Salomons, James E. Goldman et al. · Annals of Neurology · 2005 · 268 citations