Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kymberleigh Pagel"'
Autor:
Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49
https://doi.org/10.1164/rccm.202209-1653oc
https://doi.org/10.1164/rccm.202209-1653oc
Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as Supporting level of evidence for patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76a511924193d79d9d678db62a973b30
https://doi.org/10.1101/2022.03.17.484479
https://doi.org/10.1101/2022.03.17.484479
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
Autor:
Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri, Anna V. Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M. Stilp, Quan Sun, Elizabeth E. Blue, Fred A. Wright, Yi-Hui Zhou, Michael J. Bamshad, Ronald L. Gibson, Michael R. Knowles, Garry R. Cutting, Scott M. Blackman, Elizabeth Blue, Kati Buckingham, Jessica X. Chong, J. Michael Collaco, Hong Dang, Alice Eastman, Anna Faino, Paul J. Gallins, Ronald Gibson, Beth Godwin, William W. Gordon, Kurt Hetrick, Le Huang, Anh-Thu N. Lam, Weifang Liu, Yun Li, Wanda K. O'Neal, Mark Porter, Rebekah Mikeasky, Margaret Rosenfeld, Jonathan Rosen, Adrienne Stilp, Jaclyn R. Stonebraker, Jia Wen, Yingxi Yang, Peng Zhang, Yan Zhang
Publikováno v:
Am J Hum Genet
Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a variable age of onset that occurs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d09c34d6790eb0f5198d0a02cc3acfb
https://pubmed.ncbi.nlm.nih.gov/36206743
https://pubmed.ncbi.nlm.nih.gov/36206743
Autor:
Khleifat, Ahmad Al, Smith, Jenny Leopoldina, Blobner, Brandon M, Miller, Sierra D, Kymberleigh Pagel, Nadkarni, Annie, Gainey, Melanie, Campbell, Patrick, Olaitan I Awe, Belmadani, Manuel, Cleary, Alan M, Cooley, Nicholas P, Dhuri, Shamika, Grosboillot, Virginie, Haas, Brian, Hokin, Samuel, Orlova, Ekaterina, Pagadala, Meghana, Price, Stephen, Rhodes, Adelaide, Kyla, Janice, Smith, Nascimento, Chaitanya Srinivasan, Zorman, Barry, Busby, Ben
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::603a715b8693ae44e13508c7c8990c0d
Autor:
Ahmad Al Khleifat, Jenny Leopoldina Smith, Brandon Blobner, Sierra Miller, Kymberleigh Pagel, Annie Nadkarni, Melanie Gainey, Patrick Campbell, Olaitan Awe, Manuel Belmadani, Alan M. Cleary, Nicholas Cooley, Shamika Dhuri, Virginie Grosboillot, Brian W. Haas, Sam Hokin, Ekaterina Orlova, Meghana Pagadala, Stephen Price, Adelaide Rhodes, Janice Kyla Nascimento Smith, Chaitanya Srinivasan, Barry Zorman, Ben Busby
With the increasing availability of next-generation sequencing (NGS), patients and non-specialist health care professionals are obtaining their genomic information without sufficient bioinformatics skills to analyze and interpret the data. In January
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d815b6e14d3ad1e6d78ef832ef8dc56