Susan L. Sell

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders, Els Voorhoeve, Christelle Golzio et al. · The American Journal of Human Genetics · 2013 · 185 citations · Full text

Exonic Deletions, Developmental Biology, Molecular Neuroscience +7

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Blake C. Ballif, Jill A. Rosenfeld, Ryan N. Traylor et al. · Human Genetics · 2011 · 145 citations

Candidate Genes, High-resolution Array Cgh, Neurobiology Of Disease +10

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

Mary O’Driscoll, Sarah B. Daly, Jill Urquhart et al. · The American Journal of Human Genetics · 2010 · 142 citations · Full text

Protein Secretion, Protein Function, Signal Transduction +11

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors

Blythe G. Crissman, Cori Feist, Susan L. Sell et al. · Journal of Genetic Counseling · 2011 · 126 citations · Full text

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 104 citations · Full text

Brain Development, Genetics, Duplication 17P13.3 +19