Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Julie S. Cohen | Researchclopedia

Back to researchers

Julie S. Cohen

Kennedy Krieger Institute ORCID

113

Works

3,748

Citations

37

h-index

67

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

Kennedy Krieger Institute2010–2025

Janssen (Belgium)2023–2023

Johns Hopkins University2007–2025

University of the Gambia1997–1997

School of the Art Institute of Chicago2017–2017

Top Works

Clinical whole exome sequencing in child neurology practice

Siddharth Srivastava,Julie S. Cohen,et al.

2014286 citations

Autism Spectrum Disorder Research

Mitochondrial Function and Pathology

Quality of life in rare genetic conditions: A systematic review of the literature

Julie S. Cohen,Barbara B. Biesecker

2010197 citations

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin,Sara A. Lewis,et al.

2020172 citations

De novo <i>KCNB1</i> mutations in epileptic encephalopathy

Ali Torkamani,Kevin Bersell,et al.

2014145 citations

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter,Milka Pringsheim,et al.

2017109 citations

<i>DNM1</i> encephalopathy

Sarah von Spiczak,Katherine L. Helbig,et al.

2017109 citations

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto,Iva A. Tchasovnikarova,et al.

2020108 citations

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

Alex R. Paciorkowski,Ryan N. Traylor,et al.

2013108 citations

A Diagnostic Approach for Cerebral Palsy in the Genomic Era

Ryan W. Lee,Andrea Poretti,et al.

2014107 citations