P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults

by Wenjiao Li, Brandon Stauffer, Hongjie Chen, Jing Xiao, Yu Leng Phua, Neal Cody, Lisa Edelmann, Ruth Kornreich, Robert Desnick, Chunli Yu
Published 2023-01-01

P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels

by Neal Cody, Yu Leng Phua, Wenjiao Li, Irina Nazarenko, Brandon Stauffer, Hongjie Chen, Jing Xiao, Lisa Edelmann, Ruth Kornreich, Chunli Yu, Robert Desnick
Published 2023-01-01

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection

by Stuart A. Scott, Erick R. Scott, Yoshinori Seki, Annette J. Chen, Richard Wallsten, Aniwaa Owusu Obeng, Mariana R. Botton, Neal Cody, Huanzhi Shi, Geping Zhao, Paul Brake, Paola Nicoletti, Yao Yang, Maria Delio, Lisong Shi, Ruth Kornreich, Eric E. Schadt, Lisa Edelmann
Published 2021-01-01

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

by Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Published 2020-02-01

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

by Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
Published 2016-04-01

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

by Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli EA Stahl, Judy H Cho, Ruth JF Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny
Published 2017-09-01