Risultati della ricerca - Lisa Edelmann

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

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

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P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults di Wenjiao Li, Brandon Stauffer, Hongjie Chen, Jing Xiao, Yu Leng Phua, Neal Cody, Lisa Edelmann, Ruth Kornreich, Robert Desnick, Chunli Yu

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P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels di Neal Cody, Yu Leng Phua, Wenjiao Li, Irina Nazarenko, Brandon Stauffer, Hongjie Chen, Jing Xiao, Lisa Edelmann, Ruth Kornreich, Chunli Yu, Robert Desnick

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An algorithm to identify patients aged 0–3 with rare genetic disorders di 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

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

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

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Identification of rare de novo epigenetic variations in congenital disorders di Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp

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

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Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia di Sonia Mulero-Navarro, Ana Sevilla, Angel C. Roman, Dung-Fang Lee, Sunita L. D’Souza, Sherly Pardo, Ilan Riess, Jie Su, Ninette Cohen, Christoph Schaniel, Nelson A. Rodriguez, Alessia Baccarini, Brian D. Brown, Hélène Cavé, Aurélie Caye, Marion Strullu, Safak Yalcin, Christopher Y. Park, Perundurai S. Dhandapany, Ge Yongchao, Lisa Edelmann, Sawsan Bahieg, Patrick Raynal, Elisabetta Flex, Marco Tartaglia, Kateri A. Moore, Ihor R. Lemischka, Bruce D. Gelb

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

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