Cindy Skinner

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 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 591 citations

Medicine, Genetics, Pediatrics +14

Autism and maternally derived aberrations of chromosome 15q

Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis et al. · American Journal of Medical Genetics · 1998 · 372 citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 294 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12