Zobrazeno 41 - 50
of 83
pro vyhledávání: '"Ahmad N. Abou Tayoun"'
Autor:
Andrea M. Oza, Sami S. Amr, Omnia Elrehim, Khalid A. Al-Mazrou, Ahmad N. Abou Tayoun, Naif A.M. Almontashiri, Abdulrahman Alswaid, Heidi L. Rehm
Publikováno v:
Genetics in Medicine
Purpose Hearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of triba
Publikováno v:
Genes, Vol 12, Iss 818, p 818 (2021)
Genes
Genes
With limited access to trained clinical geneticists and/or genetic counselors in the majority of healthcare systems globally, and the expanding use of genetic testing in all specialties of medicine, many healthcare providers do not receive the releva
Autor:
Matthew S. Lebo, Sami S. Amr, Ahmad N. Abou Tayoun, Heidi L. Rehm, Mahdi Sarmady, Saeed Al Turki
Publikováno v:
Genetics in Medicine. 19:496-504
Classification of novel variants is a major challenge facing the widespread adoption of comprehensive clinical genomic sequencing and the field of personalized medicine in general. This is largely because most novel variants do not have functional, g
Publikováno v:
Prenatal Diagnosis. 38:26-32
Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi,
Autor:
Mahdi Sarmady, Chao Wu, Kellianne Costello, Kajia Cao, Ahmad N. Abou Tayoun, Marilyn M. Li, Xiaonan Zhao, Mark Welsh
Publikováno v:
Clinical chemistry. 66(1)
BACKGROUND Molecular profiling has become essential for tumor risk stratification and treatment selection. However, cancer genome complexity and technical artifacts make identification of real variants a challenge. Currently, clinical laboratories re
Autor:
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
Publikováno v:
Genetics in Medicine, 21, 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247
Genetics in medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 21, 10, pp. 2239-2247
PurposeProper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea097328dc52161534a78b9bfbc89123
Autor:
Ahmad N. Abou Tayoun, Saeed Al Turki, Andrea M. Oza, Amy Lovelette Hernandez, Sami S. Amr, Mark Bowser, Heidi L. Rehm, Birgit Funke
Publikováno v:
Genetics in Medicine. 18:545-553
With next generation sequencing technology improvement and cost reductions, it has become technically feasible to sequence a large number of genes in one diagnostic test. This is especially relevant for diseases with large genetic and/or phenotypic h
Autor:
Ahmad N. Abou Tayoun, Heather Mason-Suares, Lisa Mahanta, Mark Bowser, Birgit Funke, Ashley L. Frisella, Elizabeth Duffy, Heidi L. Rehm, Sami S. Amr
Publikováno v:
Human Mutation. 37:119-126
Pathogenic variants at the DFNB1 locus encompassing the GJB2 and GJB6 genes account for 50% of autosomal-recessive, congenital nonsyndromic hearing loss in the United States. Most cases are caused by sequence variants within the GJB2 gene, but a sign
Autor:
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Hela Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad N. Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen Avraham, Neha Bhatia, Donglin Bai, Nicole Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, Jasmine Goh, John Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un-Kyung Kim, Hannie Kremer, Ian Krantz, Suzanne Leal, Morag Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Yuen Ming, Miguel Angel Moreno-Pelayo, Matías Morín, Cynthia Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J.H. Smith, Saumya Shekhar Jamuar, Funda Elif Suer, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
Publikováno v:
Genetics in Medicine. 21:2409
Autor:
Kajia Cao, Samuel W. Baker, Perry Evans, Michael A. Gonzalez, Batsal Devkota, Rojeen Niazi, Nancy B. Spinner, Pushkala Jayaraman, Xiaonan Zhao, Ahmad N. Abou Tayoun, Mahdi Sarmady, Laura K. Conlin, Matthew A. Deardorff, Ian D. Krantz, Chao Wu, Avni Santani, Bryan L. Krock
Publikováno v:
European journal of human genetics : EJHG. 27(4)
Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid advancements, the major challenge still resides in identifying the casual variants among t