Kira A. Dies

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 805 citations · Full text

Life Sciences, Molecular Medicine, Neurology +17

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Yiping Shen, Kira A. Dies, Ingrid A. Holm et al. · PEDIATRICS · 2010 · 394 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

Magdalena E. Tyburczy, Kira A. Dies, Jennifer Glass et al. · PLoS Genetics · 2015 · 300 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice

Dan Ehninger, Yoshitake Sano, Petrus J. de Vries et al. · Molecular Psychiatry · 2010 · 118 citations · Full text

Life Sciences, Developmental Biology, Genetics +15

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Robyn M. Busch, Siddharth Srivastava, Olivia Hogue et al. · Translational Psychiatry · 2019 · 114 citations · Full text

Life Sciences, Genetics, Neuroscience +17