Search Results - Lisa Edelmann

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  1. 1

    P467: Retrospective review of no-call results by noninvasive prenatal screening and development of a multifactorial scoring to estimate redraw success by Chuan Gao, Jonathan McCafferty, Brent Calder, Matthew Meredith, Lisa Edelmann, Rebekah Zimmerman, Yoshiko Mito

    Published in Genetics in Medicine Open (2023-01-01)
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  2. 2

    Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints by Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott

    Published in Molecular Genetics & Genomic Medicine (2019-08-01)
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  3. 3

    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 in Genetics in Medicine Open (2023-01-01)
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  4. 4

    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 in Genetics in Medicine Open (2023-01-01)
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  5. 5

    An algorithm to identify patients aged 0–3 with rare genetic disorders by Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li

    Published in Orphanet Journal of Rare Diseases (2024-05-01)
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  6. 6

    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 in Clinical and Translational Science (2021-01-01)
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  7. 7

    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 in Molecular Genetics & Genomic Medicine (2020-02-01)
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  8. 8

    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 in PLoS Genetics (2016-04-01)
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  9. 9

    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 in eLife (2017-09-01)
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