Author

AFRICAN RESEARCH NEXUS

SHINING A SPOTLIGHT ON AFRICAN RESEARCH

Friedman, Jan M.

Author Metrics

Top Publications

Top Publications Authored or Co-Authored by "Friedman, Jan M."

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine, Volume 374, No. 23, Year 2016, Citations 259
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome
American Journal of Human Genetics, Volume 91, No. 3, Year 2012, Citations 174
Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Human Mutation, Volume 29, No. 10, Year 2008, Citations 100

Institutional Spectrum

Most Recent Affiliations

Institution	Country	Start Year	End Year	Affiliated Years
The University of British Columbia	Canada	1988	2024	37
BC Children's Hospital Research Institute	Canada	2009	2023	15
University of British Columbia, Faculty of Medicine	Canada	2020	2023	4
Children's and Women's Health Centre of British Columbia	Canada	2000	2022	23
BC Children's Hospital	Canada	1988	2020	33
BC Women’s Hospital + Health Centre	Canada	2016	2019	4
Medical Genetics	Canada	2016	2016	1
Harvard Medical School	United States	1994	2014	21
St. Josef-Hospital im Katholischen Klinikum Bochum	Germany	2014	2014	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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