Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Ruth Kornreich"'
Autor:
Neal Cody, Yu Leng Phua, Wenjiao Li, Irina Nazarenko, Brandon Stauffer, Hongjie Chen, Jing Xiao, Lisa Edelmann, Ruth Kornreich, Chunli Yu, Robert Desnick
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100041- (2023)
Externí odkaz:
https://doaj.org/article/37d74187c512483592401afa96cb6ea3
Autor:
Wenjiao Li, Brandon Stauffer, Hongjie Chen, Jing Xiao, Yu Leng Phua, Neal Cody, Lisa Edelmann, Ruth Kornreich, Robert Desnick, Chunli Yu
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100033- (2023)
Externí odkaz:
https://doaj.org/article/38426defb0864cbf9b5359e657508257
Autor:
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
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 1, Pp 204-213 (2021)
To develop a novel pharmacogenetic genotyping panel, a multidisciplinary team evaluated available evidence and selected 29 genes implicated in interindividual drug response variability, including 130 sequence variants and additional copy number varia
Externí odkaz:
https://doaj.org/article/7f804a0ee92b4221ad0fabbe49325591
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz:
https://doaj.org/article/6d3ee0c27468471986227a368547920f
Autor:
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
Publikováno v:
eLife, Vol 6 (2017)
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder
Externí odkaz:
https://doaj.org/article/2d12ca3f02f1483fbfe397e1124b87d3
Autor:
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
Publikováno v:
PLoS Genetics, Vol 12, Iss 4, p e1005848 (2016)
Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES), we identifi
Externí odkaz:
https://doaj.org/article/58d4941c9bb24969bfbc11da1f857ebc
Autor:
Robert Rigobello, Jay Shaw, Daniel Ilg, Rebekah Zimmerman, Lisa Edelmann, Ruth Kornreich, Stuart A. Scott, Neal Cody
Publikováno v:
Clinical Pharmacology & Therapeutics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03b66f19c4a209b1dd9e4f0beba2d1fc
https://doi.org/10.1002/cpt.2910
https://doi.org/10.1002/cpt.2910
Autor:
Ruth Kornreich, Lisong Shi, Mariana R. Botton, Yoshinori Seki, Neal Cody, Paola Nicoletti, Huanzhi Shi, Maria Delio, Erick R. Scott, Richard Wallsten, Aniwaa Owusu Obeng, Stuart A. Scott, Lisa Edelmann, Geping Zhao, Annette J. Chen, Eric E. Schadt, Yao Yang, Paul Brake
Publikováno v:
Clinical and Translational Science
Clinical and Translational Science, Vol 14, Iss 1, Pp 204-213 (2021)
Clinical and Translational Science, Vol 14, Iss 1, Pp 204-213 (2021)
To develop a novel pharmacogenetic genotyping panel, a multidisciplinary team evaluated available evidence and selected 29 genes implicated in interindividual drug response variability, including 130 sequence variants and additional copy number varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7fc44d5c6f407992d3859321d8b06f
https://doi.org/10.1111/cts.12844
https://doi.org/10.1111/cts.12844
Autor:
Rongzi Liu, Qing Lu, Ruth Kornreich, Lawrence Schwartz, Orhan H. Akman, Ashley H. Birch, Lisa Edelman, Alex Lossos, Or Kahklon
Publikováno v:
Journal of Rare Disorders: Diagnosis & Therapy. 3:004-008
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c271100197d19a0d97ecd2c0317f3cf3
https://doi.org/10.37871/ajrddt.id17
https://doi.org/10.37871/ajrddt.id17
Autor:
Leslie Aptekar, Erin Caine Lagoe, Jay Shaw, Caroline Sotile, Daniel Ilg, Saskia van den Berg, Yanjun Jiang, Jaya Punetha, Bryn Webb, Lisong Shi, Ruth Kornreich, Rebekah Zimmerman, Lisa Edelmann
Publikováno v:
Genetics in Medicine. 24:S196-S197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71196bd0f3282a1f11a35b357650c787
https://doi.org/10.1016/j.gim.2022.01.347
https://doi.org/10.1016/j.gim.2022.01.347