Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ghunwa Nakouzi"'
Autor:
Pascale E. Karam, Lina Hamad, Mohamed Elsherif, Khalil Kreidieh, Ghunwa Nakouzi, Khalil El Asmar, Tamar Kabakian-Khasholian, Dany Assaf Curi, Soha N. Yazbek
Publikováno v:
BMC Medical Education, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Genetic literacy among primary healthcare providers is crucial for appropriate patient care with the advances in genetic and genomic medicine. Studies from high-income countries highlight the lack of knowledge in genetics and the
Externí odkaz:
https://doaj.org/article/10262ce3ec9a41f88d02c9b89b94ac5b
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Autor:
Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e
Autor:
Stephanie A Felker, James MJ Lawlor, Susan M Hiatt, Michelle L Thompson, Donald R Latner, Candice R Finnila, Kevin M Bowling, Zachary T Bonnstetter, Katherine E Bonini, Nicole R Kelly, Whitley V Kelley, Anna CE Hurst, Melissa A Kelly, Ghunwa Nakouzi, Laura G Hendon, E Martina Bebin, Eimear E Kenny, Gregory M Cooper
PurposeNeurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze “poiso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d216d5994ea7884fe8a6e070dedbfec
https://doi.org/10.1101/2023.01.12.523654
https://doi.org/10.1101/2023.01.12.523654
Publikováno v:
Journal of Immigrant and Minority Health. 22:1347-1367
The aim of this systematic review is to provide physicians and researchers with a comprehensive list of reported genetic disorders in patients of Syrian origin-those who have become part of the largest displaced population globally-and to highlight t
Publikováno v:
Genetics in Medicine. 24:S253-S254
Autor:
James Holt, Lori Handley, James Lawlor, Susan Hiatt, Gregory Cooper, Jane Grimwood, Ghunwa Nakouzi
Publikováno v:
Genetics in Medicine. 24:S89
Publikováno v:
Genetics in Medicine. 24:S231
Publikováno v:
American Journal of Medical Genetics Part A
The coronavirus disease 2019 (COVID-19) emerged in early 2020 and since, has brought about tremendous cost to economies and healthcare systems universally. Reports of pediatric patients with inherited conditions and COVID-19 infections are emerging.
Publikováno v:
Genetics in Medicine
PurposeClinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity it also results in increased turn-around-time and cost of testing. The purpose of th
Autor:
James Holt, Melissa A. Kelly, Kelly Williams, Elaine Lyon, Ghunwa Nakouzi, David P. Bick, Nadiya Sosonkina
Publikováno v:
Molecular Genetics and Metabolism. 132:S256