Joseph J Shen
6PUBLICATIONS
10CO-AUTHORS
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Publications (6)
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|Sep 10, 2025
Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.Tiffany Hu, Javier Rodriguez, Lara L Zimmermann
|Oct 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn
|Jul 16, 2021
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.Leigh Ann Higa, Jennifer Wardley, Christopher Wardley
|Oct 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variants.Joseph J Shen, Saskia B Wortmann, Lonneke de Boer
|Feb 05, 2018
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.Joseph J Shen, Jason Carmichael, Leoncio Vásquez Santos
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Frequent Collaborators
1 joint publications
Amelle Shillington
1 joint publications
Seema R Lalani
1 joint publications
Daryl A Scott
1 joint publications
Anh P Nguyen
1 joint publications
Robyn Stoianovici
1 joint publications
Mary Karalius
1 joint publications
Ariane Soldatos
1 joint publications
Jeffrey M Gelfand
1 joint publications
Michael R Wilson
1 joint publications
Jeffrey R Vitt
