Margaret N. Berry

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

Ingrid Scurr, Louise C. Wilson, Melissa Lees et al. · American Journal of Medical Genetics Part A · 2011 · 77 citations

Medicine, Cardiology, Pediatrics +15

Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome

Vandana Shashi, Srirangam Muddasani, César Santos et al. · NeuroImage · 2004 · 51 citations

Life Sciences, Genetics, Neuroscience +17

Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome

Vandana Shashi, Thomas R. Kwapil, Jessica A. Kaczorowski et al. · Psychiatry Research Neuroimaging · 2009 · 47 citations

Life Sciences, Genetics, Neuroscience +16

The <i>RBMX</i> gene as a candidate for the Shashi X‐linked intellectual disability syndrome

Vandana Shashi, Pingxing Xie, Kelly Schoch et al. · Clinical Genetics · 2014 · 46 citations

Life Sciences, Genetics, Molecular Genetics +17