Cynthia M. Powell

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

Eric J. Horstick, Jeremy W. Linsley, James J. Dowling et al. · Nature Communications · 2013 · 256 citations · Full text

Cytoskeleton, Physiology, Molecular Biology +1

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey et al. · PEDIATRICS · 2017 · 231 citations · Full text

Sequencing, Neonatal Genomics, Newborn Screening +13

Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study

Robert E. Meyer, Gang Liu, Suzanne M. Gilboa et al. · American Journal of Medical Genetics Part A · 2015 · 205 citations · Full text

Cytogenetic and molecular characterization of <i>A2BP1</i>/<i>FOX1</i> as a candidate gene for autism

Jacqueline A. Duvall, Yesim Ilkin, Jason S. Simon et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2007 · 200 citations

Genetic Studies of Autistic Disorder and Chromosome 7

Allison E. Ashley‐Koch, Chantelle M. Wolpert, Marisa M. Menold et al. · Genomics · 1999 · 196 citations

Genetic Disorder, Syndromic Autism, Genetics +2