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Kira A. Dies | Researchclopedia

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Kira A. Dies

Boston Children's Hospital ORCID

55

Works

3,801

Citations

25

h-index

40

i10-index

Research Topics

Tuberous Sclerosis Complex Research Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Boston Children's Hospital2011–2026

Harvard University2009–2023

Neurosciences Institute2014–2014

Harvard University Press2010–2012

Autism & Developmental Medicine Institute2023–2023

Top Works

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim,Chunguang Hu,et al.

2019784 citations

Genomic variations and chromosomal abnormalities

Polyomavirus and related diseases

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava,Jamie Love‐Nichols,et al.

2019704 citations

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Yiping Shen,Kira A. Dies,et al.

2010393 citations

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,et al.

2015294 citations

A framework for an evidence-based gene list relevant to autism spectrum disorder

Christian P. Schaaf,Catalina Betancur,et al.

2020145 citations

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

Dan Ehninger,Yoshitake Sano,et al.

2010118 citations

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

Robyn M. Busch,Siddharth Srivastava,et al.

2019114 citations

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,et al.

201192 citations

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

Shafali Jeste,Joyce Y. Wu,et al.

201492 citations