Stephanie E. Vallee

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill et al. · Human Mutation · 2012 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel et al. · Human Mutation · 2011 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari et al. · Human Mutation · 2011 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17