Rena Vanzo

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld et al. · Neurogenetics · 2013 · 108 citations · Full text

Consistent Hyperkinesis, Synaptic Plasticity, Developmental Biology +14

Disorders of creatine transport and metabolism

Nicola Longo, Orly Ardon, Rena Vanzo et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · 101 citations

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Joy D. Cogan, Lynette Rives et al. · American Journal of Medical Genetics Part A · 2020 · 101 citations · Full text

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter et al. · International Journal of Molecular Sciences · 2016 · 82 citations · Full text

Consecutive Individuals, Autism Spectrum Disorders, Genetics +21