Joseph J Shen

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 5

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

BMC medical genomics

American journal of medical genetics. Part A

Journal of genetic counseling

Univeristy of California, San Francisco, Fresno campus

Case Western Reserve University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Univeristy of California, San Francisco, Fresno campus - Jul 31o 2020

United States

Clinical Geneticist :: Genetics

Education History

Case Western Reserve University

United States

PHD :: Genetics

Publications

Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle Shillington, Lori White, Houda Zghal Elloumi, Peter R Baker, Shayna Svihovec, Kathleen Brown, Yvonne Koopman-Keemink, Mariette J V Hoffer, Inge M M Lakeman, Elise Brischoux-Boucher, Maria Kinali, Xiaonan Zhao, Seema R Lalani, Daryl A Scott
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. American journal of medical genetics. Part A (2023)
Joseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, Christin D Collins, Robin van der Lee, Clara D M van Karnebeek, Madhuri R Hegde
Response to Biesecker et al. Genetics in medicine : official journal of the American College of Medical Genetics 23 (4) (2021)
Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J Shen
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants. BMC medical genomics 14 (1) (2021)
Joseph J Shen, Saskia B Wortmann, Lonneke de Boer, Leo A J Kluijtmans, Marleen C D G Huigen, Johannes Koch, Stephanie Ross, Christin D Collins, Robin van der Lee, Clara D M van Karnebeek, Madhuri R Hegde
The role of clinical response to treatment in determining pathogenicity of genomic variants. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)
Joseph J Shen, Jason Carmichael, Leoncio Vásquez Santos
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. Journal of genetic counseling 27 (4) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Joseph J Shen