Author

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

Cohen, Julie S.

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Top Publications

Top Publications Authored or Co-Authored by "Cohen, Julie S."

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Journal of Clinical Investigation, Volume 129, No. 3, Year 2019, Citations 58
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Genetics in Medicine, Volume 23, No. 10, Year 2021, Citations 51
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
PLoS Genetics, Volume 13, No. 3, Article e1006683, Year 2017, Citations 46
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 10

Institutional Spectrum

Most Recent Affiliations

Institution	Country	Start Year	End Year	Affiliated Years
Johns Hopkins University	United States	2007	2023	17
Kennedy Krieger Institute	United States	2010	2023	14
Johns Hopkins School of Medicine	United States	2018	2023	6
Johns Hopkins Medicine	United States	2021	2021	1
Johns Hopkins Medical Institutions	United States	2007	2020	14
The Johns Hopkins Hospital	United States	2017	2017	1
National Human Genome Research Institute NHGRI	United States	2013	2013	1

Disclaimer

All information and calculations provided are based on our current indexed publications and may change as more data is collected.

African Research Nexus

The African Research Nexus is a visionary initiative that seeks to increase the visibility of African Researchers and Institutions. We are a dynamic hub designed to transform the African research landscape and amplify the voices of our continent’s brightest minds.

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