Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Susan, Rojahn"'
Autor:
Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background Some clinically important genetic variants are not easily evaluated with next‐generation sequencing (NGS) methods due to technical challenges arising from high‐ similarity copies (e.g., PMS2, SMN1/SMN2, GBA1, HBA1/HBA2, CYP21A
Externí odkaz:
https://doaj.org/article/f96c2a3a0d53441093c4dd5a10f72c60
Autor:
Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez, Leslie Burnett, Robert L. Nussbaum, Swaroop Aradhya
Publikováno v:
The American Journal of Human Genetics. 110:551-564
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10327a906fe9a593fb8f79865913699e
https://doi.org/10.1016/j.ajhg.2023.02.013
https://doi.org/10.1016/j.ajhg.2023.02.013
Autor:
Brandie, Heald, Sara, Mokhtary, Sarah M, Nielsen, Susan, Rojahn, Shan, Yang, Scott T, Michalski, Edward D, Esplin
Publikováno v:
Gynecologic Oncology. 166:344-350
Hereditary uterine cancer (UC) is traditionally associated with pathogenic/likely pathogenic germline variants (PGVs) in Lynch syndrome genes or PTEN; however, growing evidence supports a role for other genes that may reveal new clinical management o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f5b2f542e91c3e8de77d79586d1c7c
https://doi.org/10.1016/j.ygyno.2022.05.023
https://doi.org/10.1016/j.ygyno.2022.05.023
Autor:
Amanda Nottke, Sophia Alan, Elise Brimble, Anthony B. Cardillo, Lura Henderson, Hana E. Littleford, Susan Rojahn, Heather Sage, Jessica Taylor, Lisandra West-Odell, Alexandra Berk
ObjectiveTo validate and demonstrate the clinical discovery utility of a novel patient-mediated, medical record collection and data extraction platform developed to improve access and utilization of real-world clinical data.MethodsClinical variables
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56807c1a01e024f96feeb2b5346ae22c
https://doi.org/10.1101/2023.02.21.23286092
https://doi.org/10.1101/2023.02.21.23286092
Autor:
Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally
Publikováno v:
JAMA cardiology. 7(9)
Genetic testing can guide management of both cardiomyopathies and arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown whether combined disease testing can improve diagnostic yield and clinical utility for pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa530ec4e6eab22db073d2d586dd22
https://pubmed.ncbi.nlm.nih.gov/35947367
https://pubmed.ncbi.nlm.nih.gov/35947367
Autor:
Chad Moretz, Elizabeth M Smith, Swaroop Aradhya, Tom Callis, Edward Esplin, Kathryn Hatchell, Taryn Hall, Robert Nussbaum, Ana Morales, Ellen Regalado, Sheng Ren, Susan Rojahn, Matteo Vatta, Jaime Murillo
Publikováno v:
Journal of Cardiac Failure. 29:571
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51248f887403ba008f7bd708dc79b963
https://doi.org/10.1016/j.cardfail.2022.10.065
https://doi.org/10.1016/j.cardfail.2022.10.065
Autor:
Britt Johnson, Karen Ouyang, Lauren Frank, Rebecca Truty, Susan Rojahn, Ana Morales, Swaroop Aradhya, Keith Nykamp
Publikováno v:
American journal of medical genetics. Part A. 188(9)
Guidelines for variant interpretation include criteria for incorporating phenotype evidence, but this evidence is inconsistently applied. Systematic approaches to using phenotype evidence are needed. We developed a method for curating disease phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df111e0e3a07c3ae23a6ee3dcae63eb6
https://pubmed.ncbi.nlm.nih.gov/35570716
https://pubmed.ncbi.nlm.nih.gov/35570716
Autor:
Ana Morales, Chad Moretz, Sheng Ren, Elizabeth Smith, Tom Callis, Joline Dalton, Taryn Hall, Kathryn Hatchell, Jaime Murillo, Robert L Nussbaum, Ellen Regalado, Susan Rojahn, Matteo Vatta, Edward D Esplin
Publikováno v:
Circulation. 144
Introduction: Professional guidelines support genetic testing (GT) for dilated, hypertrophic, restrictive, arrhythmogenic, and peripartum cardiomyopathy to confirm a diagnosis, guide management, enable clinical trials, and/or allow more informed gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08fac0f4bf68a5cb213252188800c65b
https://doi.org/10.1161/circ.144.suppl_1.10555
https://doi.org/10.1161/circ.144.suppl_1.10555
Autor:
Lisa Dellefave-Castillo, Allison Cirino, Tom E Callis, Ed Esplin, Kathryn Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert Nussbaum, Elizabeth McNally
Publikováno v:
Circulation. 144
Introduction: Genetic testing for heritable cardiomyopathy and arrhythmia syndromes has evolved rapidly and is now recommended by cardiology professional societies to establish a genetic etiology, guide clinical management, and identify at-risk famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::013c83c23c6937a5f768a2be5db758ac
https://doi.org/10.1161/circ.144.suppl_1.9751
https://doi.org/10.1161/circ.144.suppl_1.9751
Autor:
Bernardo Marquez, Kristine Ashcraft, Susan Rojahn, Elif Tokar Erdemir, Taryn O. Hall, Gwyn Omar Magoncia, Justine Reyes, Yinglong Guo, Chantelle Schenning, Kae Vines Tanudtanud, Chad Moretz
Publikováno v:
Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 1192, p 1192 (2021)
Volume 11
Issue 11
Journal of Personalized Medicine, Vol 11, Iss 1192, p 1192 (2021)
Volume 11
Issue 11
Unmanaged pharmacogenomic and drug interaction risk can lengthen hospitalization and may have influenced the severe health outcomes seen in some COVID-19 patients. To determine if unmanaged pharmacogenomic and drug interaction risks were associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e91ac7dc7d8b344be448106570a5192
http://europepmc.org/articles/PMC8617857
http://europepmc.org/articles/PMC8617857